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Genetic Screening and Counselling for Haemoglobinopathies in Enfield, North LondonA Review of the literature

9/23/2011University of BedfordshireSifuma Andrew Njenga 1026086

21,290 words

THIS DISSERTATION IS SUBMITTED IN PART FULLFILLMENT OF THE DEGREE OF MASTER OF SCIENCE IN PUBLIC HEALTH

Sifuma Andrew Njenga 1026086

Assignment Top sheet

Student’s Surname Njenga Student’s Forename Sifuma Andrew

Student Reference Number 1026086

Unit Name Dissertation......................................Unit Code PUBO10-6

Unit coordinator’s name Susan Sapsed

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Signature.........................................................................................................Date 23/09/11

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Table of Contents

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Abstract................................................................................................................................................ iv

Acknowledgements..............................................................................................................................vi

CHAPTER 1.............................................................................................................................................1

INTRODUCTION.....................................................................................................................................1

1.1 Purpose of the study..................................................................................................................1

1.2 Background information on Haemoglobinopathies...................................................................2

1.2.2 Inheritance of Haemoglobinopathies: Carriers VS Sufferers.........................................................3

1.2.3 Clinical symptoms of the Haemoglobinopathies..........................................................................8

1.2.4 Treatment for the Haemoglobinopathies.....................................................................................9

1.2.5 Prevalence of the haemoglobinopathies....................................................................................11

1.2.6 Diagnosis of Haemoglobinopathies in secondary care...............................................................12

1.3 Screening for Haemoglobinopathies........................................................................................13

1.4 Background information on Enfield...............................................................................................15

1.5 The Problem............................................................................................................................20

1.6 Significance....................................................................................................................................21

1.7 Aim and Objectives of the study....................................................................................................22

Chapter 2.............................................................................................................................................23

Preliminary literature review...............................................................................................................23

2.1 A Recent History of Haemoglobinopathy screening in the UK.......................................................23

2.2 Diversity and screening..................................................................................................................25

2.3 Screening policy worldwide...........................................................................................................26

2.4 Universal vs. selective screening....................................................................................................27

2.5 Economic evaluations of screening for Haemoglobinopathies in the UK......................................28

2.6 Ethical issues associated with genetic screening...........................................................................29

2.7 Current screening protocols in the UK...........................................................................................31

2.8 Screening services in Enfield and surrounding areas.....................................................................34

Chapter 3.............................................................................................................................................36

Methodology & Methods....................................................................................................................36

3.1 Initial research design....................................................................................................................36

3.1.2 SAMPLE INFORMATION..............................................................................................................37

3.1.3 INCLUSION CRITERIA...................................................................................................................37

3.1.4 EXCLUSION CRITERIA..................................................................................................................38

3.1.5 Recruitment of Participants........................................................................................................38

3.1.6 TIMESCALE/RESOURCES NEEDED FOR STUDY............................................................................41

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3.1.7 ETHICAL CONSIDERATION...........................................................................................................41

3.1.8 ANALYSIS OF RESULTS................................................................................................................42

3.2 Change of methodology, deciding to perform a systematic review..............................................42

3.2.1 Systematic reviews as a methodology........................................................................................43

3.2.2 Critical aspects of the systematic review....................................................................................45

3.2.3 Search Terms..............................................................................................................................47

3.2.4 Critical appraisal of identified articles – inclusion/exclusion criteria..........................................48

3.2.5 Drawing a conclusion..................................................................................................................52

3.2.6 Ethical Problems.........................................................................................................................52

3.3 Method..........................................................................................................................................53

3.3.1 Defining the review question......................................................................................................53

3.3.2 Search strategy and sources.......................................................................................................53

3.3.3 Determining the selection, inclusion and exclusion criteria.......................................................61

3.3.4 Determining quality assessment criteria....................................................................................63

3.3.5 Thematic Analysis.......................................................................................................................63

Chapter 4.............................................................................................................................................64

Results.................................................................................................................................................64

4.1 summary of articles used for review..............................................................................................64

4.2 Methodological summary of results..............................................................................................85

Chapter 5.............................................................................................................................................87

Data Analysis.......................................................................................................................................87

5.1 Themes emerging from the literature...........................................................................................87

Chapter 6...........................................................................................................................................103

Discussion..........................................................................................................................................103

6.1 Themes in context.......................................................................................................................103

6.1.2 Information and consent..........................................................................................................104

6.1.3 Perceived risk, decision making in parents consulted about screening for Haemoglobinopathies & other diseases................................................................................................................................105

6.1.4 Communication of screening results........................................................................................106

6.1.5 Responses/Outcomes to genetic screening & counselling.......................................................106

6.2 Relationship of themes to chapter 2............................................................................................107

6.3 Implications and link to practice in Enfield..................................................................................110

Chapter 7...........................................................................................................................................111

7.1 Challenges met by the researcher...............................................................................................111

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7.2 Limitations of the study...............................................................................................................112

7.3 Recommendations.......................................................................................................................113

7.4 Conclusion...................................................................................................................................113

7.5 Plans for dissemination................................................................................................................114

7.6 Reflection on Learning.................................................................................................................114

References.........................................................................................................................................116

Appendix 1.........................................................................................................................................120

Cover letter sent to schools and nurseries in Enfield.........................................................................120

Appendix 2 Sample Supplementary letter sent to schools in Enfield.................................................122

Appendix 3.........................................................................................................................................123

Interview topic guide/schedule.........................................................................................................123

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Abstract

Screening is defined as “the systematic application of a test or inquiry, to identify individuals

at sufficient risk of a specific disorder to warrant further investigation or direct preventative

action, amongst persons who have not sought medical attention on account of symptoms of

that disorder”. The NHS Sickle Cell and Thalassaemia (SC&T) Screening Programme was set

up in England in 2001 following Government commitment in the NHS Plan (2000) which

offers universal screening for haemoglobinopathies for all expectant mothers. As well as

antenatal and neonatal screening, genetic counselling is offered to carrier mothers, at risk

parents and at request from healthcare practitioners

Purpose: The aim and objectives of the study were to; explore theme(s), shared patterns

and/ or issues pertaining to parent attitudes and experiences towards antenatal, neonatal

screening and genetic counselling for haemoglobinopathies and its relation to service

provision in the London borough of Enfield.

Method: This study reviews the literature in 10 selected articles regarding parents who have

experienced genetic screening and counselling for haemoglobinopathies and other genetic

disorders

Results: Findings from the collated studies suggest that the main issues regarding screening

for haemoglobinopathies are; information and consent, risk perception and reproductive

decisions, communication of screening results , and response/outcomes to screening and

counselling.

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Conclusion: For screening to be successful, healthcare practitioners must take into

consideration the personal values, information needs, reproductive decisions and responses

to screening and counselling to provide equitable services to people from ethnic minorities.

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Acknowledgements

The researcher would firstly like to thank God for allowing me to reach this stage of my

personal and professional development and taking me through this Master’s course.

I would secondly like to thank my supervisor Ron Driver for his guidance and assistance

while i have been undertaking this dissertation and to my course leader Susan Sapsed for

her availability and quick correspondence to any questions that I had regarding the

dissertation.

Last but not least I would like to thank my family and in particular my mother Ruth Njenga

for taking time out to teach me the correct methodology of conducting a systematic review

and constant encouragement.

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CHAPTER 1

INTRODUCTION

1.1 Purpose of the study

The purpose of this study is to review selected papers on screening for

haemoglobinopathies.

The initial study attempted to assess patient attitudes and satisfaction towards antenatal,

newborn screening and genetic counselling for haemoglobinopathies in Enfield by using

qualitative approach. The reasons for the change in methodology are described in section

3.3 and explained further in section 6.2.

The rationale for selecting this topic was for the author to gain a deeper understanding and

appreciation of the literature on this topic in order to provide information to colleagues,

relevant authorities and policy makers in North London working in Maternity services and

Haematology. The information will serve as a knowledge base to hopefully assist policy and

practice within these areas.

Background information on haemoglobinopathies, their inheritance, diagnosis and

treatment are described below in section 1.2

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1.2 Background information on Haemoglobinopathies

The Haemoglobin molecule is made up of four polypeptide chains, each of which has a

single haem group consisting of an iron atom located at the centre of a porphyrin ring

(Bragg and Perutz, 1952) (Bragg and Perutz, 1952 in Njenga, 2010). The molecule retains its

quaternary structure through hydrogen bonds between the opposite polarized polypeptide

chains and the structure changes with the addition of oxygen molecules is by each haem

group. The structure of haemoglobin is shown in fig 1.1 below

Fig. 1.1 Quaternary configuration of a single haemoglobin molecule

Manning & Russell (2007) cited by Njenga (2010) describes that the genes that code for

haemoglobin in humans are found in two clusters on an α or α-like complex on chromosome

16 and a β complex on chromosome 11.(Manning et al., 2007)

Adult human haemoglobin (Hb A) consists of 2 α-Globin and 2β-globin chains of 141 and 146

amino acid chains each and also consists of a small percentage of Hb A 2 chains which has 2

δ-globins and 2 α-globins.

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As described by Paul (1976),the Synthesis of Globin chains is a complex genetic process

where firstly transcription of Globin genes produces a messenger RNA precursor which is

then processed post-transcription with 5’ end capping and methylation. Translation of the

resultant tRNA then produces the 2 α and β globins, and finally the ionic interaction

between the haemoglobin chains to form mature active haemoglobin. Because of this

myriad of active processes and their complex nature, errors can occur during processing

causing haemoglobin disorders (Paul, 1976) in (Njenga, 2010). When these errors in

haemoglobin processing cause a clinical presentation, they are known as

haemoglobinopathies.

Haemoglobinopathies are the most common single gene disorders in man. They are passed

on to generation to generation and these conditions are more prevalent in the tropical and

malarial regions of the world and in that are populations of African, Afro-Caribbean,

Mediterranean, Middle Eastern, Asian and Hispanic descent (Modell and Darlison, 2008).

Haemoglobinpathies are described as any blood disorder caused by defects in Globin gene

chain synthesis. Classified into two broad categories; those which cause a quantitative

reduction in haemoglobin synthesis (the Thalassaemias), and structural

haemoglobinopathies where there is a qualitative loss of haemoglobin synthesis, causing

haemoglobin variants cause the disorder (Sickle cell disease)(WHO., 2007).

1.2.2 Inheritance of Haemoglobinopathies: Carriers VS Sufferers

People possess two copies of the β Globin gene, on homologous chromosomes. In most

people, the two Globin gene copies are identical. A person with two identical gene copies is

said to be homozygous.

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In some people, the two copies of the β globin gene are not identical. People who possess

two non-identical alleles of the β Globin gene are known as being heterozygous for that

gene. The β Globin allele that leads to sickle cell disease is called the Haemoglobin S (HbS)

allele and is the most commonly occurring recessive variant of regular adult human

haemoglobin gene (HbA)(Frenette and Atweh, 2007).

As detailed by the European Haemoglobinopathy registry (2003), each time a couple is

expecting a child, the child will inherit one haemoglobin gene from each parent according to

Mendelian genetics. In each pregnancy there are always four possible allele combinations

the child can be born with, also known as chances.

If both parents possess the most common combination of haemoglobin genes (HbAA) this

couple’s children have a 100% chance of inheriting the usual combination of Globin genes

and will therefore produce normal haemoglobin at birth(registry, 2003). This is shown in

figure 1.2 overleaf.

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Father (HbAA) Mother (HbAA)

Fig 1.2 inheritance of normal globin genes

When one parent has homologous normal haemoglobin, and the other is heterozygous

possessing one abnormal globin allele, the chances of having a child who is homologous for

the normal gene is 75% and they have a 25% chance of having a child who is heterozygous

(HbAS) and is therefore a carrier of abnormal haemoglobin. HbS is a recessive gene however

so it will most likely not produce a clinical presentation.

When both parents possess a trait condition i.e. One normal haemoglobin allelle and one

abnormal haemoglobin such as sickle trait (HbAS) or β thalassaemia trait (Hb AbThal) there

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is a chance that their children will inherit the abnormal haemoglobin gene from either one

or both. The inheritance of abnormal haemoglobins is depicted in Figure 3. In these couples

there is a 25% chance of having a child with the disease, a 50% chance of having a child with

the heterozygous trait condition and a 25% chance that the child will inherit a normal

homozygous gene from both parents, and so will be completely normal. This is shown fig 1.3

below.

Father (HbAS) Mother (HbAS)

Children: HbSS HbAS HbAS HbAA

Fig 1.3. Inheritance of abnormal haemoglobins in parents who are both carriers

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Thalassaemia is caused by a deficiency of α-Globin chain synthesis, mostly occurring due to

deletion of one or both of the contiguous α-Globin genes. This mutation occurs due to

unequal cross-over between homologous allelle sequences in the α-Globin gene

cluster(Young, 2010).

Due to the high gene frequencies of Globin chains, and the existence on two separate

chromosomes, there is a possibility of interactions of genes and pseudo genes which can

cause of different forms of haemoglobinopathy, especially in those with mixed ethnic

background. Individuals are often encountered who have inherited two or more mutations

on the α and/or β-Globin gene clusters(Young, 2010).

An individual who is a carrier for both α-thalassaemia and β-thalassaemia is referred to as a

double heterozygote and are generally healthy however those who are compound

heterozygotes for α-thalassaemia and Hb S have a severe disorder similar to sickle-cell

disease(Young, 2010).

As mentioned before, haemoglobinopathies are autosomal recessive defects. Carriers only

have one affected locus on the gene and because of the recessive nature of abnormal Hb

genes they generally remain healthy throughout life although they are at risk of transmitting

the disease to children and successive generations. People who are homozygous and have

inherited a defective Hb gene from both parents gene suffer the disorder with varying

severity depending on the specific point mutation existing on the gene. Over 600

haemoglobin variants have been identified however most manifestations of abnormal

haemoglobins do not have a clinical presentation(Higgs and Weatherall, 1993).

Due to advances in technology and genetics, it is possible to screen for many genetically

linked diseases and conditions.

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1.2.3 Clinical symptoms of the Haemoglobinopathies

Sickle cell anaemia and the Thalassaemias exhibit some clinical similarities between the two

conditions. Both are expressed as a direct result of a defect in the Globin chain and patients

suffer chronic haemolysis throughout their life(Njenga, 2010).

Carriers are described as having the sickle cell trait and for the most part are entirely

healthy, although they can develop clinical problems, such as vaso-occlusive episodes in

conditions of very low oxygen saturation such as those encountered in deep-sea diving, high

altitude situations, air travel, or when under general anaesthesia (Young, 2010).

In regards to sickle cell, onset of the condition begins in infancy as β-Globin gene expression

overtakes generation of foetal haemoglobin(Bank, 2006). When this happens, affected

children present symptoms such as anaemia and jaundice, due to haemolysis of red blood

cells. Haemolysis occurs throughout life and red blood cells in sickle cell patients break

down much faster than in normal people.

The most common symptom of sickle cell disease is recurrent painful sickle cell crises which

are a result of anaemia, vaso-occlusive Ischaemia and haemolysis of red cells. Damage to

the spleen due to haemolysis can result in increased susceptibility to infection with bacteria

such as Streptococcus pneumonia and Haemophilus influenza(Young, 2010).

Young (2010) illustrates that individuals with α-thalassaemia trait are usually asymptomatic,

with only a mild anaemia and haemoglobin levels of 10–12 g/100 ml (normal range 12–14

g/100 ml). In contrast, individuals with Hb H disease where there is a loss of 3 of the α-

Globin genes have a more severe anaemia with haemoglobin levels of 7–10 g/100 ml,

associated with increased rates of bacterial infection, haemolysis, and Splenomegaly.

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Children with β- thalassaemia (thalassaemia major) usually start having symptoms at 6

months during the transition of foetal to adult haemoglobin. Symptoms include poor

feeding, recurrent infection, and poor development. If left untreated the child will

eventually die due to general ill health and recurrent infections. Regular blood transfusion

from a suitable donor will reverse symptoms of anaemia and malaise, but leads to excess

iron deposition in the heart, pancreas, and liver(Young, 2010). This accumulation of ferric

ions can be a cause of death in early adult life unless prevented by adherence to a strict

regime of iron chelation therapy.

1.2.4 Treatment for the Haemoglobinopathies

For acute sickle cell crises, it has been suggested that Paracetamol (1000 mg ) and NSAIDs

(for example, Diclofenac 100 mg), either dosed singly or in combination for one patient to

experience at least 50% decrease in pain from acute sickle cell crises (McQuay, 1999).

More severe pain may require analgesia using opioids such as intravenous morphine (10 mg

in saline). Opioids are widely accepted as the treatment of choice for acute severe painful

crises and that there is a variation in the type of opioids utilised for treatment, as well as the

route and the mode of administration. Some drugs, especially strong Opioids are associated

with liver and kidney toxicity and so clinical benefit must be weighed against the

risks(Dunlop and Bennett, 2006).

There is also considerable clinical interest in the prevention of sickle pain through

modification of the underlying pathophysiology. Examples of preventative strategies include

the use of exchange blood transfusions, Hydroxyurea therapy and prophylactic penicillin to

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reduce the amount of sickled haemoglobin and susceptibility to infection (Dunlop and

Bennett, 2006).

Treatment of chronic pain caused by Sickle cell disease takes a multidisciplinary approach,

including the use of analgesic drugs, nerve block, physiotherapy, orthopaedic intervention

or surgery, and cognitive behaviour therapy (Okpala et al., 2002). Mild chronic pain can be

alleviated by dihydrocodeine or co-proxamol. Okpala et al (2002) also goes on to mention

that any pain not controlled by two tablets 4-hourly is considered moderate/severe, and is

then treated using morphine. Slow-release oral morphine, taken 12-hourly, is used for long-

term analgesia, with smaller doses of rapid-release oral morphine for breakthrough pain.

NSAIDS are discouraged due to liver toxicity. A switch from morphine to hydromorphone

may be required due to development of tolerance to the opioids.

Supplementary approaches may be used to treat the pain of avascular necrosis of the hip,

shoulder or intervertebral joints using nerve block which can last for up to 12 weeks.

Physiotherapy can significantly reduce joint pain, prevent muscle spasming and contraction

and lessen joint stiffness which can reduce mobility and cognitive function(Ballas, 1990).

Cognitive behaviour therapy and counselling enables the sufferer to develop ways of

overcoming the frustration and acute depression that can accompany painful episodes.

Patients who are homozygous for β-thalassaemia usually exhibit some form of anaemia and

ineffective creation of red cells and so to prevent this regular blood transfusions with a

suitable donor is required (Lee et al., 2006).In patients where yearly transfusion

requirements exceed 200 mL packed cells per kilogram body weight, splenectomy(removal

of the spleen) is usually performed so as to reduce Red Blood Cell requirements

accumulation of iron in essential organs (Modell, 1977). Because of the risk of

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postsplenectomy infection, splenectomy is normally delayed until the patient has past the

age of 5. Excessive blood transfusions and hypersplenism can result in deposition of excess

iron from transfused blood to the heart, pancreas, and liver of the patient. This causes

toxicity to these organs and can prove fatal in later life.

Iron chelation therapy with a drug such as desferrioxamine prevents iron overload through

the ability of iron chelators to complex with iron and promote its excretion.

The only true cure for the haemoglobinopathies that has so far been developed is Bone

marrow transplantation using HLA-compatible unaffected related donors and has

been carried out in children with success rates of over 90% (Young, 2010). The procedure is

however very intrusive, painful and recovery occurs over a long time in quarantine because

patients will be immunocompromised and very weak during recovery.

1.2.5 Prevalence of the haemoglobinopathies

At present, about 5% of the world’s population are carriers of a potentially pathological

haemoglobin gene (i.e. healthy people who have inherited only one mutant gene from one

parent), and that each year approximately 300 000 infants worldwide are born with

thalassaemia syndromes (30% of cases) or sickle-cell anaemia (70% of cases)(WHO, 2006).

The percentage of carriers of thalassaemia is greater than that of carriers of sickle-cell

anaemia, but because of the higher frequency of the sickle-cell gene in certain regions, the

number of affected births is higher than with thalassaemia(WHO, 2006).

β thalassaemia is the most common haemoglobin disorder in the Mediterranean basin, the

Middle East and Asia. Severe α-thalassaemia is common in south-east Asia, and sickle-cell

anaemia predominates in Africa. Increasing global migration, however, has introduced

haemoglobin disorders into many areas where they were not originally endemic.

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In the United States of America, 10% of the population is at risk of sickle-cell anaemia, and

in north-western Europe between 2% and 9% belong to the ethnic minorities at risk of

haemoglobin disorders. In some south-east Asian countries up to 40% of the population

may carry significant haemoglobin mutations, resulting in increased rates of infants born

with thalassaemia(WHO, 2006).

According to the National Health Service of the UK, an estimated one in 300 babies of

African-Caribbean parents and one in 60 of West African parents are born with sickle cell

disease each year. An estimated 8,000-10,000 people with sickle cell disease and 600 with β

Thalassaemia live in the UK. Approximately 1 in 4 West African, 1 in 10 African-Caribbean, 1

in 50 Asian and 1 in 100 Northern Greek have sickle cell trait (carrier state). Whilst 1 in 7

Greek, 1 in 10-20 Asian, 1 in 50 African and African-Caribbean and 1 in 1000 English people

have beta thalassaemia trait. Worldwide α thalassaemia carrier states are commoner than ß

thalassaemia carrier states(registry, 2003) in (Njenga, 2010).

1.2.6 Diagnosis of Haemoglobinopathies in secondary care

The detec(Trent, 2006)tion and characterisation of a haemoglobinopathy involves a 3 tier

work up. (1) Full blood count (2) Special haematological tests and (3) DNA testing (Trent,

2006).

Trent (2006) describes that “The key to successful detection and characterisation of the

haemoglobinopathies, particularly the thalassaemias, is the initial haematological data”.

Diagnosis presents a number of analytical complexities and a diagnosis is not always as

straightforward as simply looking at laboratory results. The clue for a thalassaemia comes

with a low MCV (mean corpuscular volume) or MCH (mean corpuscular haemoglobin).

Although iron deficiency is the other explanation for a low MCV or MCH, the first step after

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the initial abnormal blood count as described above, is to exclude iron deficiency and if

present, to treat it. The blood count is then repeated, and if the MCV / MCH remain low, a

thalassaemia is most likely.

Trent (2006) also mentions that if only MCV or MCH is used for the initial screen, the HbS

allele will not be able to be identified. Therefore, health professionals or laboratories

dealing with populations in which HbS occurs should always include a HbEPG(Haemoglobin

electrophoregram) which is a DNA test that can identify Haemoglobin variants.

Once a haemoglobinopathy is suspected, the next tier of investigation requires a number of

special haematological tests known as a haemoglobinopathy screen which include a variety

of assays such as electrophoresis of the various globins, red blood cell staining, and

chromatography.

1.3 Screening for Haemoglobinopathies

Screening is defined as “the systematic application of a test or inquiry, to identify individuals

at sufficient risk of a specific disorder to warrant further investigation or direct preventative

action, amongst persons who have not sought medical attention on account of symptoms of

that disorder” (Davies et al., 2000).

First use of the term "Inborn Errors of Metabolism" was coined by Archibald Garrod, who in

1902 showed insight into the inheritance of specific chemical defects in metabolism and

demonstrated that an enzyme deficiency can be inherited and lead to a manifested

condition that can cause morbidity and mortality.

In the case of antenatal screening, two methods are the most widely utilised to perform

antenatal screening for haemoglobinopathies and other genetic defects and these are

Amniocentesis and Chorionic villus sampling. Analysis and tapping of amniotic fluid has been

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practised for over a 100 years. transabdominal amniocentesis in the third trimester has

been reported by Prochownick, Von Schatz and Lambl in 1877 and Schatz in the 1890s. The

first use of amniotic fluid examination in the diagnosis of genetic disease was reported

byFuchs and Riis in 1956 in their seminal article in "Nature" describing how analysis of

amniotic cells can be used to determine sex of a fetus. John Edward (1956) also discussed

the possibility of the "antenatal detection of hereditary disorders".

In the 1960’s, Dr. Robert Guthrie yielded a breakthrough in screening for genetic conditions

when he developed a test to detect Phenyl Ketonuria (PKU) before it becomes clinically

symptomatic. The test consisted of a culture of Bacillus subtilis and B-2-thienylalanine(a

bacterial growth inhibitor). Once a blood sample from the newborn was added to this

culture, the bacteria would leach the phenylalanine from the blood spot, overcome the

inhibition caused by the B-2-thienylalanine, and grow (Guthrie and Susi, 1963). Growth of

the bacteria beyond a normal range indicated that there were elevated levels of

phenylalanine present within the blood sample and therefore the presence of PKU in the

newborn. By the late 1960s, newborn screening for rare genetic diseases using the Guthrie

test had become a permanent part of infant health care in the United States. There was

however an issue in collection of blood from the neonate as there was a need for a

relatively large sample. Dr Guthrie developed a method of blood collection known as a “heel

prick” which collected a smaller sample which reduced pain and discomfort in neonates.

In the 1970’s, screening for PKU for newborns using dried blood spots onto a filter paper

card(Guthrie card) at around 1 week of age was put in place throughout the United Kingdom

(Pollitt, 2006). It became possible to screen for a further range of disorders with the advent

of radio-immunoassay in the 1970s. Local programmes for SCD newborn screening began in

London and Birmingham in the early 1970s. Electrophoresis (citrate agar and cellulose

14


acetate) were the early methods but these have been superseded by High Performance

Liquid Chromatography (HPLC) and isoelectric focussing (IEF) (Levy, 1998).

1.4 Background information on Enfield

The London Borough of Enfield is the most northerly borough of London and forms part of

the greater London area. It borders the London Boroughs of Haringey to the south, Barnet

to the west and Waltham Forest to the east. Enfield also borders the Hertfordshire districts

of Welwyn Hatfield to the North and the Essex district of Epping Forest to the North East.

The current geographical area of the borough was formed in 1965, combining the three

municipal boroughs of Southgate, Enfield and Edmonton.

The Population of Enfield according to the Office for national statistics (2006) was 285,300.

Enfield, similar to other London boroughs is multicultural, with people from all ethnic

backgrounds and there is a mix of urban, rural, affluent and deprived communities (Enfield

P.C.T, 2003). Table 1.1 overleaf shows the percentage split of different ethnic groups as of

the 2001 census(Council, 2010).

Ethnic Group Number % split

White: British 167,394 61.2%

White: Irish 8,398 3.1%

White: Other White 35,157 12.9%

Mixed: White and Black Caribbean 2,549 0.9%

Mixed: White and Black African 1,068 0.4%

Mixed: White and Asian 2,278 0.8%

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Mixed: Other Mixed 2,199 0.8%

Asian or Asian British: Indian 10,887 4.0%

Asian or Asian British: Pakistani 1,717 0.6%

Asian or Asian British: Bangladeshi 3,524 1.3%

Asian or Asian British: Other Asian 5,121 1.9%

Black or Black British: Caribbean 14,590 5.3%

Black or Black British: African 11,884 4.3%

Black or Black British: Other Black 2,117 0.8%

Chinese or other ethnic group: Chinese 2,011 0.7%

Chinese or other ethnic group: Other 2,665 1.0%

Table 1.1 percentage spread of ethnic groups in Enfield (Enfield.gov.uk, 2010)

The Other White group is made up primarily of Greek, Turkish and Cypriots and Enfield is

known for having a high population of these peoples. A Further one percent of the

population, approximately 1,911 people, are asylum seekers (Hughes et al., 2003).

In the same census, performed in 2001, Social Grades of the people of Enfield between the

ages of 16 and 74 was detailed and this is shown in table 1.2 below.

Grade Number % Description

AB 47,897 22.5% Professional/ Managerial

C1 70,214 33.0% Intermediate & Junior Non-Manual

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C2 28,562 13.4% Skilled Manual

DE 65,858 31.0% Semi-Skilled and Unskilled Manual

Table 1.2 Social grades of Enfield population 16-74 (Enfield.gov.uk, 2010)

It was found by the census that 26.4% of the population in Enfield is aged 19 and under,

which is above the London average, and was predicted to grow over the coming years

(Mason, 2010).

Mason (2010) also describe that in Enfield, educational results are close to or above the

national averages, with 79% of pupils achieving level 4 or above in English at Key Stage 2,

compared to a national average of 80% and 78% of pupils achieving level 4 or above in

Maths at Key Stage 2, compared to a national average of 79%.

In terms of deprivation, GLA figures show that, in May 2010, 7.2% of the labour force in

Enfield is unemployed (claiming Jobseeker’s Allowance or National Insurance credits). This

figure represents the tenth highest figure for a London borough, and is above both the

Greater London (5.9% average) and Great Britain overall(5.3% average)(Mason, 2010).Nine

wards in Enfield have labour force claimant count rates higher than the overall borough

average, with Edmonton Green being the worst affected ward, where 14.1% of the labour

force is claiming Jobseeker’s Allowance or National Insurance credits. Figure 1.4 below

shows a map of Enfield showing deprivation score by ward showing the large variations in

the borough

17


Fig 1.4 Map of Enfield showing deprivation score by ward

Life expectancy at birth for Enfield residents was higher than the national average between

2007 – 2009 for both males and females, and this is shown diagrammatically in fig 1.5

overleaf. Male life expectancy is 78.8 years and female life expectancy is 82.7 years.

However, there are large disparities between life expectancy in different parts of the

borough, with a ten year difference between life expectancy in the south eastern and north

western parts of the borough (Mason, 2010).

18


Fig 1.5. Life expectancy for males and females in Enfield as compared to the national average with margins of error (Mason,

2010)

In general, the health of Enfield residents is similar to the England average. Mortality rates

from serious illnesses such as cancer and heart disease have fallen over the past 10 years,

and remain below the England average (Mason, 2010).

Two major NHS hospitals, North Middlesex Hospital and Chase Farm Hospital serve the

population. Enfield Primary Care NHS Trust is responsible for primary care of the local

population. Another hospital in the borough, Highlands, was closed in 1993 and the area

was converted into middle level residential area.

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1.5 The Problem

Currently some areas of Enfield have limited access to rail and bus services. There is poor

public transport accessibility along the Lee Valley Corridor despite the presence of the West

Anglia Main Line, which suffers from low service frequencies and poor station access,

particularly at Angel Road station.

As an outer London borough, it is acknowledged that many people in Enfield will continue to

rely on the use of the car for travel. However, according to 2001 Census data, 29% of the

Borough’s households have no access to a car and in some wards in the east of the borough

up to 50% of households do not have a car. These are generally the areas with higher rates

of deprivation and unemployment such as Edmonton and Ponders End. This may cause

problems with accessibility to NHS services and as such may discourage mothers from fully

accessing all maternity services available to them.

It has been noted by the Enfield Primary Care Trust that there still exists a need for outreach

between GP surgeries and specific black and minority ethnic groups, more training for

frontline staff in cultural awareness and sensitivity regarding service provision to these

peoples, recruitment within statutory bodies to ensure representation for the diverse

communities and ethnic monitoring of health service use in hospital and primary care. It had

also been highlighted that there is a need for signage and translated material including

pictorial information for non-readers(Hughes et al., 2003).

There are significant numbers of young people living in poverty; 20% of all children living in

Enfield live with lone-parents on benefits (Mason, 2010).

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In September 2006 Primary Care Trusts in Barnet, Enfield and Haringey decided to look into

options for improving the way health care is to be delivered for people in these three

Boroughs (Tyrell, 2010). The debate around proposals for change in local health services

began in 2006 with the identification of 10 possible Scenarios for changing hospital services

within these areas. After Deliberation, reviews and conferences to see which option would

be the most feasible. It was decided that maternity and A&E at Chase farm hospital would

be transferred to the new site at North Middlesex Hospital. These moves will allow the

consolidation of emergency and consultant-led obstetric and neonatal specialist services on

the Barnet and North Middlesex University Hospital sites and the development of Chase

Farm Hospital (Tyrell, 2010).

The NHS Enfield Board decided in 2010 that changes to Women’s and Children’s services

would be the first to be implemented and have been completed as of summer 2011. Work

on A&E services, urgent care, emergency inpatients and planned care developments, are

underway and are hoped to be completed by 2013(Tyrell, 2010).

It has been argued by lobbying groups such as the save chase farm hospital group, that are

against the transfer of services in Enfield that this option reduces accessibility for Women

and Children from the most deprived communities in Enfield and that the plans being made

by the P.C.T are unsustainable and may lead to a decline in quality of care.

1.6 Significance

North London, consisting of the boroughs of Enfield, Harringay, Waltham Forest and Barnet

are some of the most diverse boroughs within the greater London area and has a high

proportion of inhabitants of West African, Afro-Caribbean, Cypriot, Greek, Turkish, Middle

21


Eastern and South Asian descent. These are all at risk groups in relation to

haemoglobinopathies and so an investigation into their attitudes, satisfaction and feeling

towards screening and genetic counselling services would be important.

There is insufficient information about family values and expectations with regard to SCD

screening. It is important to consult high-risk populations to understand if identified infants

are being enrolled in a programme for treatment and care, if certain types of services or

programs are deemed necessary to prevent the birth of children with the disease, and if

there is a need for community education, couples counselling, and/or carrier screening to all

high-risk populations of childbearing age.

1.7 Aim and Objectives of the study

The study will be a review of relevant literature to identify common themes covering the

topics of haemoglobinopathy screening services and genetic counselling in relation to the

London borough of Enfield.

The objectives in the study would be to:-

to understand and add to his personal knowledge base relating to

neonatal/antenatal screening for haemoglobinopathies and genetic counselling

including those detailing patient satisfaction and inequalities

to identify the common themes critique and appraise the strengths of the studies,

and then conduct a thematic analysis of the research findings

Find out the feelings, attitudes and information needs of the participants towards

neonatal and antenatal screening.

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Chapter 2

Preliminary literature review

The NHS Plan for England made a commitment in 2001 to establish ‘a linked antenatal and

newborn screening programme for haemoglobinopathies and sickle cell disease’(Streetly,

2006). The Programme is under the management of the UK National screening committee.

Internationally, screening for haemoglobinopathies is mostly done on an Ad-hoc basis but in

some southern European countries such as Greece, Italy and Cyprus there is a more

systematic screening model and in Iran there is mandatory testing for carrier status prior to

marriage(Saadallah and Rashed, 2007).

2.1 A Recent History of Haemoglobinopathy screening in the UK

The NHS Sickle Cell and Thalassaemia (SC&T) Screening Programme was set up in England in

2001 following Government commitment in the NHS Plan. It is the world’s first linked

antenatal and newborn screening programme which means that results from antenatal tests

taken by parents-to be are linked with their babies test result which allows reduction of

anxiety in parents, easy access to information, avoid unnecessary repeat testing and

ensuring accuracy in interpretation of results(Streetly, 2000).

Initially, there were a variety of models of screening existing in the UK, which were not

always effective in their functioning. It was first thought that due to the varied distribution

of the “at risk” population that there was a need for different service models according to

the prevalence of the conditions, based on cost effectiveness, but this brought about the

issue of equity and access to health care for those at risk in non “at risk” areas (Zeuner et al.,

23


1999). Also, it is known that ethnicity is not always a good predictor of risk as Afro-

Caribbeans, Cypriots and Italians frequently marry outside their ethnic group which can

cause a risk to the population(DOH., 1993). As different alleles for haemoglobinopathies can

interact, and an increase in mixed parenting in the UK it was decided that screening would

become a universal incentive by the NHS’ programme (Streetly et al., 2009). A universal

programme is deemed better than being selective as a selection process can be costly and

not identify all at risk pregnancies which can attract litigation in some cases (Lane et al.,

1992). A universal screening protocol also assists in raising awareness of the

haemoglobinopathies among communities and as well as health service providers. A

universal screening programme is therefore more instrumental in satisfying the aims of the

national screening programme which are to

Save lives through prompt identification of affected babies

Offer informed choice to couples expecting a baby

Support the development of a managed clinical care network such that people

have fair access to quality services throughout England

Raise public awareness of the disorders and challenge stigma

(Streetly et al., 2009)

As well as neonatal and antenatal screening, genetic counselling is offered to carrier

mothers, at risk parents and at request from healthcare practitioners.

24


2.2 Diversity and screening

In regards to haemoglobinopathies, the first indicator that can identify an “at risk” couple is

ethnicity and/or ancestry i.e. whether the individuals are descended from people’s who

originate in the parts of the world where haemoglobinopathy genes are most prevalent.

This information can only be obtained by questioning the individual. Classification based on

skin colour or the 2001 census categories 11 has been seen to be inappropriate. This is due

to the fact that Census categories simply attempt to classify an individual by “ethnic group”

as opposed to their ethnic origin. These classifications do not equate to ancestral origin and

do not identify ‘white’ individuals from those descended from Mediterranean populations

where there is a high prevalence of thalassaemia and sickle cell genes. The futility of census

classifications is further shown in the fact that the prevalence of haemoglobinopathy genes

are expressed significantly in nearly all populations except those with northern European

ancestry/origin(Aspinall et al., 2003).

To make informed choices about screening, all individuals require good quality information

from health practitioners, given to them in presented in a form that is sensitive to their level

of literacy as well as sensitive to their culture and way of life. In the past the NHS has been

slow to act on its lack of informational and public relational needs of its diverse populations.

It has been argued by some researchers (Khattab et al., 2005, Spencer and Jordan, 2001),

that the training of biological sciences in nurse and midwife education has caused many of

them to have insufficient knowledge of health behaviours and health needs of ethnic

minorities which in turn may lead to inequalities in the health care provision of these

peoples. Indeed, in terms of knowledge of haemoglobinopathies, researchers have

concluded that midwives are under-educated in issues relating to management of

25


haemoglobinopathies in pregnancy and inheritance of haemoglobinopathies(Dyson et al.,

1996).

The NHS has responded to these claims however, and with the introduction of the NHS

national sickle cell and thalassaemia screening program in 2001 has brought about a clear

benchmark in standards of screening, training to midwives, GP’s and Lab staff, as well as

information about screening to prospective mothers in 30 languages.

2.3 Screening policy worldwide

In most western countries, (U.K, U.S.A, Canada, Australia etc), newborn screening for

haemoglobinopathies has been accepted as a worthwhile and effective intervention.

However, an important drawback is the lack of consistent policies for SCD screening. For

example, it has been reported that in the United States (Wertz et al., 1994) that where there

are programmes for haemoglobinopathies exist, differences exist among primary care

physicians in the acceptability and commitment to screen all newborns with 71 percent of

paediatricians, 46 percent of obstetricians, and 40 percent of family practitioners agreeing

that only “at risk groups” should be screened.

France has chosen to offer SCD screening to all high-risk infants (Frezal et al., 1990,

Bardakjian et al., 2000) by adopting a targeted screening approach in metropolitan areas,

where infants are offered sickle cell screening if they fall under one of the 5 criteria defined

by the Association Française pour le Dépistage et la Prévention des Handicaps de

l’Enfant .The 5 criteria are as follows: 1) if one of the two parents is originally from a country

where the incidence of SCD is significant; 2) if one of the parents is from one of the above

26


countries and the other is from Asia; 3) if the mother is at risk and the father is not known;

4) if a parent suffers from a haemoglobin disorder or is aware of any family history in this

regard; and 5) if there is any doubt with regard to the 4previous points.

In Cyprus, Greece and Italy, premarital screening for thalassaemia has been normal practice

for a long time because consanguinity is high. Similar preventive programmes have been

introduced in Bahrain, China, India, the Islamic Republic of Iran, Indonesia, Malaysia, the

Maldives, Singapore and Thailand, and recently in Saudi Arabia and the United Arab

Emirates(Avard et al., 2006).

2.4 Universal vs. selective screening

Guidelines and reviews of screening programmes have been published by various agencies

around the world. Some have recommended universal screening for all newborns, while

others, such as Avard et al (2006) have suggested that screening strategies, whether

universal or selective, should depend on the proportion of high-risk individuals in a

community.

For instance, researchers in Georgia, U.S.A, compared the number of black newborns

screened for haemoglobinopathies between 1981 and 1985 with black birth figures for the

same period, and estimated that approximately 20 percent of black newborns were not

screened. Results of a study of universal screening in multiethnic California also indicated

that an approach of targeting certain groups in that state would have missed at least 10

percent of those whose sickle cell disease was actually diagnosed at birth.66 Indeed, the US

experience suggests that adequate targeting strategies are difficult to define and the criteria

used to identify ethnic origin in relation to risk of sickle carrier status are likely to vary

27


between and within countries, thus making the generalisability of such analyses difficult to

interpret(Harris and Eckman, 1989 ).

2.5 Economic evaluations of screening for Haemoglobinopathies in

the UK

Economic evaluations are generally categorised into four main types of analyses, namely:

cost minimisation, cost-effectiveness analysis, cost–benefit analysis and cost–utility analysis.

As Explained in Zeuner et al (1999) Cost–benefit analysis “measures and values the

outcomes, or non-resource-use consequences, of the options under consideration in

monetary terms”. Measuring outcomes explicitly in terms of monetary units is however

known to be notoriously difficult. Hence, cost benefit analysis in the last century were more

tailored to hypothesizing that financial savings for healthcare organizations were the sole

benefit of screening and not take into consideration the non resource consequences

(Modell and Kuliev, 1991). Methods such as using ‘willingness to pay’ to obtain monetary

outcome values do exist and have been used in the context of antenatal screening for cystic

fibrosis, but are generally considered to be experimental (Pollitt et al., 1997).

Zeuner et al (1999) also note that Cost–utility analysis measures outcome in terms of

‘utility’, most commonly expressed in terms of quality adjusted life years (QALY). The quality

of life associated with a health state is measured on a scale of zero to one, where death is

assigned a value of zero and good health is assigned a value of one.

Techniques have been developed (McGuire et al., 1988), such as the time trade-off and

standard gamble, to give a standard representation of such values. The duration of each

health state is multiplied or weighted by its utility value. Where an option leads to a series

of health states, the weighted durations are summed to give the QALY.

28


In the case of antenatal screening it has been argued by researchers (Ganiats, 1996, Karnon

and Brown, 1998), that the use of cost–utility analysis is made more complex due to the

implications of it to the pregnant woman, her family and the fetus (or child-to-be).

The effect on their utility is likely to be contingent and/or flexible, depending on the

experience of screening, pathways to screening and their own individual reproductive

decisions(Karnon et al., 2000). The process of delivering a programme may also be utility- or

disutility-bearing, such as the manner by which results are delivered (e.g. in person, by

telephone or by letter), or the accessibility of the individual to services.

It has been concluded that in terms of laboratory diagnosis for haemoglobinopathy screens

that Iso Electric Focussing and HPLC are very similar in terms of average cost per test and

that it is mainly up to the managers to decide which should be used based on technicians

expertise and skill set(Cronin et al., 1998). They also remark that the decision whether to

use a universal or targeted strategy should not be based on ethnicity, but on the number of

births, the prevalence and resulting cost per extra SCD identified with universal screening

(Cronin et al., 2000).

2.6 Ethical issues associated with genetic screening

The WHO considers that newborn screening should be mandatory if early diagnosis and

treatment will benefit the newborn(WHO, 2006).

In order to assess the effectiveness of the linkage between antenatal and newborn

screening, and to know whether the newborn screening standards are being achieved and

babies who require clinical care are receiving appropriate follow up, named patient data is

required. The collection of named patient data is a very sensitive issue and the screening

programme centre applied for, and obtained, permission from the Ethics and Confidentiality

29


Committee (ECC) of the National Information Governance Board (NIGB) to obtain named

data without parental consent

However, it has been argued by some researchers (Avard et al., 2006) that identifying

carriers raises a number of ethical dilemmas for the family. First, while identification of

carriers may be beneficial for the parents, birth is generally considered a poor time for

communicating carrier screening information. Moreover, this information is of minimal

benefit to the child; indeed, it may not be useful until the child reaches adolescence or

reproductive age.

Additional disadvantages of knowing carrier status have been argued by the American

Society of Human Genetics (1995) such as alteration of self-esteem, and impacting on a

parents’ perception of the child. It has also been argued that genetic screening can have

negative implications on the foetus, as there is a lack of choice to be tested, increased

anxiety of the condition once they are aware of it, blaming oneself for the condition and

possible discrimination against the child in education, insurance and employment(Wertz et

al., 1994).

In the absence of proper public education, social support and parental counselling,

confusion about the significance of carrying the common sickle cell trait and sickle cell

anaemia (with a frequency of 1 in 600) can lead to unnecessary discrimination and stigma

(Frezal et al., 1990). Consequently, with the establishment of a newborn SCD program, the

detection of carriers (both parents and children) should be accompanied by adequate

counselling.

30


It has been argued by Aksoy (2001) that the availability of antenatal screening and

diagnostic testing has changed the experience of pregnancy. Before the development of

antenatal testing for foetal abnormality, the foetus was assumed to be healthy, unless there

was evidence to the contrary. The presence of antenatal testing and monitoring shifts the

balance towards having to prove the health or normality of a foetus(Aksoy, 2001).

2.7 Current screening protocols in the UK

In the UK, the screening programme is a multi stage process with involvement of different

health professionals during each stage. The main reason for screening for

haemoglobinopathies is to let couples make decisions on the pregnancy based on the

results of screening, and to give informed choice to the mother on termination of the

pregnancy depending on the results of the screening (Streetly, 2006). Screening policy is

defined into two policies in areas of high prevalence, and areas of low prevalence based on

a benchmark of more than 1.5 babies displaying a haemoglobinopathy born per 10,000

births(Zeuner et al., 1999). In high prevalence areas, all pregnant women are offered the

test for haemoglobinopathies and all partners of identified carrier mothers are offered

screening. In low prevalence areas all women are offered the screening using routine red

blood cell indices and a family origin questionnaire is used to assess the risk of the woman

and/or her partner being a carrier. Women identified in high risk groups are offered the

screen for their baby. Partners of mothers who are carriers for haemoglobinopathies are

offered the test irrespective of their ethnicity(Streetly et al., 2009).

During the first trimester of pregnancy, leaflets are given to expectant mothers to educate

them on haemoglobinopathies. In most settings however leaflets are only available in

31


English and so language may be a possible barrier to understanding in this instance. Offering

of Antenatal screening is normally conducted by midwives and specialist nurses however it

has been argued by some researchers (Dyson et al., 1996) that midwives show a lack of

awareness on the topic of haemoglobinopathies and of “at risk” groups in some cases it has

also been argued by them that the women being screened are not given adequate

information about screening and its implications and also in some cases screened without

consent. It has been seen from programmes where there is a high prevalence of

haemoglobinopathies that screening for thalassaemias more often results in a termination

of affected foetus and is in general more acceptable (Davies et al., 2000). However it has

been noted in some studies that practice and turnover time of tests can identify couples

who are at risk too late to offer first trimester prenatal diagnosis and informed choice for a

termination (Petrou et al., 1992).

Newborn screening is performed for the primary reason of identifying babies with SCD and

to get affected babies on an active early penicillin prophylaxis and pain management. The

test also serves to be able to permit for beginning of counselling and dissemination of

management information to parents of affected or carrier newborns. The screening

pathway involves a pre-screening leaflet given antenatally during the 3 rd trimester of the

pregnancy and informed choice for the mother to do the test once the baby has been born.

If the mother consents, the blood test involves a small heel prick to the baby to obtain a

bloodspot and the sample is then sent for laboratory analysis(Streetly, 2006). If there is a

suspected abnormal result there is a repeat analysis and a result is obtained. Results are

then sent to the GP and then relayed to the parents. Best standards and high quality

screening services must be offered to all parents and these are supported by the

implementation and reporting guidance. It has been noted that results of tests are normally

32


sent in the post and this has lead to some parents becoming anxious and unsure of the

implications of a positive result and parents would rather have results of neonatal tests

given to them in person and explained fully by a health professional(Ryan et al., 2010).

In the event of a detection of carrier status or a haemoglobinopathy, parents of affected

babies are referred to a genetic counsellor as well as clinical services. Genetic counsellors

may be a health professional who has undertaken training at master’s level to enable them

to develop the skills to occupy the role, or may be a health professional who has specialised

in genetics (ENGNC., 2010). The role of a genetic counsellor is:

To identify the needs of the individual or family and use an empathic, client centred

approach to the provision of genetic counselling

• To collect, select, interpret, confirm and analyse information (including family and medical

history, pedigree, laboratory results and literature) relevant to the delivery of genetic

counselling for individuals or families

• To help people understand and adapt to the medical, psychological, social and familial

implications of genetic contributions to disease

• To assess the chance of disease occurrence or recurrence

• To provide diagnostic information to clients based on family and/or medical history and/or

genetic testing

• To provide education about inheritance, testing, management, prevention, resources and

research to relevant individuals or families

• To promote informed choices and psychological adaptation to the condition or risk of the

condition.

Indeed, most genetic counselling takes place during the pregnancy and neonate stages.

These are the periods of time however when the mother is at the most psychologically

33


vulnerable (Green et al., 2004). In general, genetic counsellors will work with families with a

pre-established diagnosis or in a general setting under the supervision of a clinical doctor.

Genetic counsellors however will not be responsible for conducting any physical

examinations and so there must be expert collaboration between the counsellor and other

members of staff and in accordance with the code of practice for genetic counsellors in

Europe (ENGNC., 2010). Outcomes of genetic counselling ideally should be an increase in

knowledge of haemoglobinopathies, their inheritance and management, without addition of

anxiety or any other negative psychosocial effects in the parents of the child. Studies have

noted that in the past that learning during genetic counselling is sometimes below

expectations as the significance of being a carrier may not be clear to the counselee,

counselees being unable to remember information given through counselling, and simply

the fact that counselling is initiated by healthcare practitioners and not the parents in

question (Loader et al 1991). Even more recently it has been discovered that there is an

inadequacy of current procedures for achieving informed consent and although there is

attainment of knowledge there is a difference between that and understanding

(Linnenbringer et al., 2010). Anxiety of a positive result occurs in most women however

studies are yet to conclude on whether there is a positive reassuring effect after counselling.

People whose first language is not English, it is understood that there is an additional barrier

to understanding their screening results as they cannot be presented results in their own

language and there is a possibility of interpreter bias.

2.8 Screening services in Enfield and surrounding areas

The George Marsh centre for sickle cell and thalassaemia at St Ann’s Hospital in nearby

Tottenham provides genetic counselling for haemoglobinopathies to parents who are at risk

34


of having a child affected by a haemoglobinopathy and the hospital also handles analysis of

blood samples from Enfield Haringey and Barnet. Affected infants are seen at home after

initial diagnosis and then attend the joint paediatric haematology clinic held weekly on a

Wednesday.

The department at George Marsh centre is well known for its expertise in the management

of haemoglobinopathy disorders and the multi-disciplinary team including medical staff,

social workers and a clinical psychologist care for around 1000 patients in Haringey Enfield

and Barnet and act as the centre of a network of services for these patients.

35


Chapter 3

Methodology & Methods

The following chapter details the methodological development of the project and the

methods used by the researcher to gain data to accomplish the aims and objectives of the

study. The researcher had initially chosen to use qualitative methods to get data however

due to challenges experienced by the researcher in conducting the study it was decided that

a systematic review of relevant literature would still be appropriate in addressing the

research question. The methodological development of the initial qualitative study remains

in this section as the researcher believes it is still relevant to the research study and he

hopes that it can be conducted in a future project.

3.1 Initial research design

To meet the aims and objectives of the study, the research was initially to be achieved using

qualitative methods. The method of data collection that was at first chosen to carry out this

research was face to face open ended interviews with women/couples that have undergone

screening for haemoglobinopathies and genetic counselling. It was decided that open ended

interviewing would be the best method to fully obtain the opinions, attitudes and feelings of

participants. The advantages of face to face interviews are that interviewers can probe fully

for responses and clarify any ambiguities; more complicated and detailed questions can be

asked; more information of greater depth can be obtained and inconsistencies and

misinterpretations can be checked (Bowling, 2009).

36


The disadvantages are that interviews can be expensive and time consuming, there is

potential for interviewer bias and additional bias can exist if interpreters are needed for

participants (Bowling, 2009).

3.1.2 SAMPLE INFORMATION

Once ethical approval has been granted, permission will be asked for access to patient

records for mothers who have gone through screening for haemoglobinopathies for

themselves and their children and genetic counselling. The sample population must

represent the population of interest in order for results to be generalisable (Bowling, 2009

p.) and seen to be able to apply to the population at large. 100 participants will be sought

out hopefully there will be enough positive responses for 30 interviews to be conducted

with mothers, with or without their partners.

3.1.3 INCLUSION CRITERIA

The inclusion criteria for the study will be Mothers/Parents with at least one child who have

undergone neonatal or antenatal screening. The participants do not necessarily have to be

in an “at risk” ethnic group but should have gone through the screening and/or counselling

for a pregnancy occurring within the past 5 years. This is because haemoglobinopathies are

more common in ethnic minorities as detailed above. White mothers who have had mixed

race children will be considered but will have to fill the criteria of having a child who is a

carrier for a haemoglobinopathy

Participants can either have been born in the UK or in the country of origin but it will noted

in the interview.

37


Participants will be between the ages of 18 and 40. Level of education will not be taken into

account.

3.1.4 EXCLUSION CRITERIA

Women who have been through screening and produced a negative result for being carriers

for haemoglobinopathies or their children being afflicted with a disorder or being carriers.

Women who have haemoglobinopathies but have no children will not be considered.

Women who are not considered to be in the “at risk” racial groups (i.e. Caucasian women)

who have not had children with men in at risk groups will not be considered.

Non-English speakers will not be included for reason of possible interpreter bias.

3.1.5 Recruitment of Participants

After creation of the interview schedule, the researcher had to identify prospective sites

where mothers/couples could be recruited from to participate in the study. As a resident of

Enfield, the first point of call was the researcher’s local GP surgery (highlands surgery),

which serves the residents of highlands village to attempt to get assistance in recruitment.

After meeting with the practice manager and discussing the research, it was seen that

although it would be feasible to gain some participants from the surgery, it only served a

small, almost homogenous community within Enfield and so gaining participants from this

area alone would not give a generalisable sample population. It was decided therefore that

the researcher would reach out to other GP surgeries and hospitals in different wards of

Enfield however was met with many issues of bureaucracy and gate-keeping at these NHS

services preventing the researcher from communicating with the relevant managers to

38


make it possible to gain participants from these institutions. These issues, coupled with the

need for ethical approval from managers of these institutions and the REC of Enfield, which

can take a significant time.

Since the mothers/couples to be used in the study were users of NHS services and not

necessarily NHS patients per se, it was decided that to eliminate the oft cumbersome

requirements of going through the NHS ethics system, it would be more feasible to instead

try and recruit participants through nurseries and primary schools in the Enfield area. This is

because these institutions provide a way to recruit parents from a mix of cultural

backgrounds, from Enfield, who have undergone screening within the past 7 years,

therefore satisfying them under the inclusion criteria detailed in section 3.1.3. A covering

letter was drafted to communicate the agenda of the researcher to schools to gain

authorisation from them before vetting/recruiting of participants would be done. A copy of

the covering letter drafted to be presented at the schools is given in appendix 1. The

researcher also requested supplementary letters to be drafted in support of the covering

letter detailing that the research was ethically sound and that the researcher was indeed a

student of University of Bedfordshire. An example of this supplementary letter is given in

appendix 2. The schools identified for communication and their various locations in Enfield

are listed in table 3.1 overleaf.

39


Name of School/Nursery Address Ward

Cornerstone day nursery 2 Napier Road

Ponders End, Enfield,

Middlesex EN3 4QW

Ponders End

Platform one nursery ltd Grange Park Railway Station,

Vera Avenue, London N21

1RE

Grange

Highlands village pre-school Village Hall, 5 Florey Square,

London N21 1UJ

Highlands

Busy bees nursery Enfield 2 Florey Square, London N21

1UJ

Highlands

Happy days nursery

Oakwood

Westpole Avenue

EN4 0BD

Cockfosters

Bright stars nursery Tristram Drive, London

N9 9TQ

Lower Edmonton

Asquith Nursery 2 Queen Anne's Place,

Enfield, Middlesex EN1 2PX

Bush hill park

Eversley primary school Chaseville Park Road,

London, London N21 1PD

Highlands

Tara’s kindergarten nursery, 98 High Street, Ponders Ponders End

40


End Enfield EN3 4EZ

Woodberry Day Nursery 63 Church Hill, London N21

1LE

Winchmore Hill

Table 3.1 schools identified for recruitment of participants for the study

3.1.6 TIMESCALE/RESOURCES NEEDED FOR STUDY

As mentioned above face to face interviews are some of the more time consuming and

expensive methods of research and the researcher will be financing all travel and other

resources. Since the study will be conducted within the borough and neighbouring boroughs

of the researcher it will be relatively easy to plan and conduct travel to and from interviews.

If plans are successful and 30 interviews are conducted it would cost the researcher

approximately £250 to conduct the interview minus any incentive offered to the

interviewees. Incentives would take the form of book tokens or coupons for school

equipment for participants’ children. All interviews were planned to be completed by July

2011.

3.1.7 ETHICAL CONSIDERATION

Ethical consideration was obtained from the University’s health and social care ethics

committee. As it was approved by the committee, the study is in accordance with the

standards and guidelines set for research that involves human participants.

During the research, certain fundamentals of ethics must be adhered to considering it will

be primary research. Confidentiality, informed consent, and protection of the human rights

of participants must be taken into account at all times. Participants will not be referred to by

41


their names and will instead be referred to as “patient” in accordance with the Nursing and

Midwifery protocol (NMC, 2009). The researcher must be a neutral party at all times, be non

judgemental and make the participants feel valued and kept in a positive frame of mind

towards the study. Participants will be notified that they can exit the study at any stage if

they feel uncomfortable or no longer want to participate. All recorded interviews and notes

from interviews will be kept on the researcher’s person or locked and/or password

protected if kept electronically. A copy of the interview schedule/topic guide is shown in

appendix 3.

3.1.8 ANALYSIS OF RESULTS

Analyses of interviews, which are a qualitative methodology, are not quite as

straightforward. The researcher will identify common themes existing in interview data and

notes confer units of meaning such as specific words and sentences as participants express

them and therefore code them in this way (Burnard, 1991). The coded information will then

be reformulated and a constructed in more theoretical terms to make a model of

understanding using coherence, differences and hierarchies of data (Bowling, 2009).

3.2 Change of methodology, deciding to perform a systematic review

Due to challenges the researcher experienced in recruitment of participants, finding a site to

perform interviews and some issues with gate keeping from the schools, he decided to

instead undertake a systematic review. He had to update his research question as well as

the aim and objectives of the study. The principles of systematic reviews and the framework

used to conduct the review are described in section 3.3.2 and 3.3.3 respectively.

42


3.2.1 Systematic reviews as a methodology

People are more aware of research as a source of knowledge, viewing a piece of research in

a contextual view of other research acts to keep professionals updated with information. As

the volume of data in the healthcare field is constantly expanding with increased emphasis

on evidence based practice, literature reviews are key tools that can be used to identify

information, conceptual frameworks and summarized ideas (Hart, 1998, Aveyard, 2006,

Depoy and Gitlin, 2005). Before considering to undertake reviewing the literature, certain

factors ought to be considered such as ones topic, regulations and expectations that apply,

the size of the topic, the time, expense and resources available and the accessibility

(Denscombe, 2007). Contextually, the main reasons for conducting a literature review can

be summed up as;

Determine previous research on the topic of interest

Determine the level of theory and knowledge development

Determine the relevance of current knowledge base to problem area

Provide rationale for selection of research strategy.

Methodology is defined as:

“a system of methods and rules to facilitate the collection and analysis of

data...provides a starting point for choosing an approach made up of theories, ideas,

concepts, and definitions of the topic; therefore the basis of a critical activity

consisting of making choices…” (Hart, 1998).

Systematic reviews aim to provide an overview of work in specific areas by searching,

finding, evaluating and synthesising evidence employing specific terms, rules and

expectations about process that follow key principals are listed below.

43


Principals of a systematic review (Hart, 2005)

Well focused research question

Focused searching strategy

Rigorous methods of appraisal and synthesis

Explicit and replicable methods of review

Detailed and determined presentation and synthesis

Reviewing literature systematically becomes a methodology when one bases ones

information on the criteria above (Aveyard, 2007). The study therefore sees the researcher

reviewing the literature around the subject of patient outcomes for screening and genetic

counselling for haemoglobinopathies.

Systematically reviewing the literature was seen to be the best methodology to use for the

study for the following reasons (a) enabled him to further familiarize himself with the multi

faceted nature of the research question (b) enabled him to determine the development of

knowledge and theory relating to screening and genetic counselling for

haemoglobinopathies (c) enabled him to form a framework by which his study findings

would be interpreted, (d) add to his knowledge base from the available literature and (e) to

enable the researcher to see if his initial study plan would have produced generalisable,

reliable and quality data.

3.2.2 Critical aspects of the systematic review

Defining the review questions was based on the chapter 2 which acted to direct the search

and final analysis of the selected papers. The review questions were:

44


What were the contextual views of parents who had undergone antenatal and

neonatal screening for haemoglobinopathies in a universal screening setting?

What were the outcomes for parents who had received genetic counselling after

receiving a carrier or affected foetus diagnosis?

(a) Limiting the scope of the study is necessary to answer defined research questions.

According to Hart (2005) for a research question to be answerable it should follow

the principles of the acronym PICO: Population/problem of interest, intervention or

investigation, comparison of interest and the outcomes considered most important.

In the case of this study, the PICO parameters are detailed in table 3.2 below

P-Population – parents experiencing prebirth screening for haemoglobinopathies

I-Investigation – investigate attitudes, perceptions, communications, experiences and

expectations of screening

C- comparison of evidence focusing on different methodologies/populations as well as

outcomes considered most important in assessing results

O- Outcomes – outlines in the aim and objectives of the study

Table 3.2 principles outlining an answerable research question

Reading abstracts is a fundamental aspect of modification of research questions and

reducing the scope of a study. The assessment of associated studies and literature available

on the topic at hand provides visual representation of the historical records, decisions and

processes that lead a researcher to understanding the theory, practice and methodological

debates surrounding a chosen topic. Summarizing abstracts in a table enables one to

identify the articles relevant content and specialized features (Aveyard, 2006, Hart, 2005).

45


(b) Concepts underpinning search Because of the multi-faceted nature of the research

questions and multiple topics to be explored dealing with haemoglobinopathy

screening, an organizational strategy was employed to select the most important

points in each article to highlight in the review, thus building a search strategy where

all possible relevant literature is searched and appraised. Systematic Reviews may

combine methodological, chronological or thematic searches (Greenlagh, 2006).

Those reviews following a chronological method are written according to when

articles to be studied were published. Articles by publication chronology may be used

if they demonstrate important trends in the development of the current knowledge

(Rosen and Behrens 2007). For example, for the topic of screening for

haemoglobinopathies, some articles would focus on targeted screening and

therefore the ethnicity question, some on universal screening outcomes, others

would focus on neonatal screening and its outcomes, and yet others focusing on

counselling when a carrier or disease diagnosis was made.

Thematic approach search strategies are organized around topics or issues rather

than the progression of time, although progression of time may still be an important

factor (Depoy and Gitlin, 2005). In this study the key themes and frameworks

associated with antenatal & neonatal screening experience were to be explored.

A methodological approach on the other hand differs from thematic analysis and

chronological analysis in the respect that the focal area of the review is not the data that has

been gathered but in the methods and/or interventions used by researchers within the

literature. A methodological scope influences the type of articles in the review and the way

in which they were discussed. A Methodological approach is crucial in the assessment of

46


articles to be reviewed so as to identify any methodological failings or redundancies

(Greenlagh, 2006).

3.2.3 Search Terms

The establishment of search terms and key words used to identify prospective articles for

review is fundamental in systematic reviews and enables the researcher to determine the

number of relevant studies on the topic to be studied (Churchill, 2005). The terminology

used to search for the articles for review were varied due to the nature of the study and the

review question to be addressed e.g ‘neonatal screening’, ‘patient outcomes for neonatal

screening’ ‘genetic counselling’ ‘genetic testing for haemoglobinopathies’. Boolean logic was

used as a strategy for searching for articles as it enables a researcher to identify and manage

articles in a logical and systematic way to ensure that all databases and journals are

searched. The exact terms and key words used to locate articles are described fully in

section 3.3.2 and 3.3.3.

3.2.4 Critical appraisal of identified articles – inclusion/exclusion

criteria

Critical appraisals are routes for closing the gap between practice and research and are tools

that help researchers understand the methods/results of research and assess their quality

(Aveyard, 2006) and is an integral process in Evidence based practice (EBP) that aims to

identify methodological flaws in the literature and provide researchers’ with the opportunity

47


to make informed decisions about the quality of research evidence. Strong evidence is based

on hierarchal ranking of evidence which (Aveyard 2006) stated was not always feasible to

apply to ones question. There are numerous study designs available that have caused much

debate as each have their unique strengths and limits that could distort ones conclusions

(Creswell, 2003). (Popay et al., 1998) described this as judgement that requires the

invocation of criteria tailored to the particular features of the topic in question. In this

regard, the assessment criteria emphasizes the reporting structure, methodology, data

analysis among other criteria such as sample, intervention, response and outcome measures

utilized that enabled the author clarify and classify with better understanding the results of

the articles (Cormack, 2006). Asking oneself the following questions determined the

selection of the critical analysis tool (s) utilized:

It is sensible to group various populations together and why?

It is sensible to combine various interventions together and why? `

What outcomes are relevant that work to answer ones question?

What study designs should be included /excluded and why?

Stating the inclusion and exclusion criteria is vital as the information was used in the final

selection of articles for review. The inclusion and exclusion criterion determines the primary

markers, research aims, context and sampling strategy. In order to find a focus criterion for

the inclusion and exclusion of articles on staff haemoglobinopathy screening, the author

considered the following questions in relation to the review question.

Do the studies present one or different solutions on the topic area?

Are there different aspects that influence the topic area that are different or missing?

48


How well do the articles present the material and do they portray a methodology

that is appropriate?

What trends in the field are revealed and the current situation?

What is the criterion of selecting the articles?

Quality assessment criteria (CASP 2008) were applied on the articles in order to qualify for

inclusion in the study as described in section under methods. The search strategies

employed in this study were selected as to be inclusive of the wider context of

haemoglobinopathy screening and genetic counselling.

In this regard, consideration was made as to the aims and objectives of this study, bearing in

mind that the protocols existing regarding haemoglobinopathy screening and genetic

counselling differ. Thirdly, research designs either quantitative or qualitative would serve to

inform him on different aspects of haemoglobinopathy screening and genetic counselling

which would result in rich, diverse and strong evidence for the study.

In seeking criteria for assessing studies, the debates on critiquing of qualitative papers and

quantitative papers in relation to the terms used was noted. For instance, in quantitative

studies ‘validity and reliability’ while qualitative studies use the terms ‘trustworthiness and

authenticity that is further made up of four criteria (Popay et al., 1998, Bryman, 2008)

shown in table 3.3 below.

Qualitative - Trustworthiness Qualitative – Authenticity Quantitative

Credibility Fairness Internal validity

Transferability Educative authenticity External validity

49


Dependability Catalytic authenticity Reliability

Confirmability Tactical authenticity Objectivity

Table 3.3 criteria for assessing research articles

Quantitative researchers rely on data collection techniques such as questionnaires,

interviews and observations where the data is presented in quantifiable form; being aware

of the following: peer reviewed articles; research question and the reasons the study was

conducted; a summary of the research process; sample size and whether random or non-

randomly selected; data collection methods and analysis and measurement tools.

Qualitative researchers typically rely on methods such as observations, field notes, and

reflexive journals, structured / unstructured interviews presented in descriptive form.

Similar to quantitative questions; one ought to be aware whether articles were peer

reviewed, whether the research question and method were appropriate; whether the right

research method was used, whether the sample was purposive rather than random

sampling; theoretical aspects (Holliday, 2007). The size of the sample in contrast to

quantitative research, although (Gregory, 2003) argues that phenomenological studies have

smaller samples than grounded theory studies); data collection (in-depth interviews and

focus groups) although there is debate on the benefits of interviews (Barbour 2001).

In assessing articles, the author applied, Critical Appraisal Skills Program (CASP, 2006) which

integrate Oxman and Guyatt (1988) and Law et al (1988), Popey et al (1998) and

(Greenhalgh, 2006).

A thematic analysis is a process that essentially involves the detection of patterns and

inconsistencies and is geared towards developing themes systematically using either and/or

50


three approaches a) theory; b) prior research and c) inductive driven(Boyatzis, 1998). Coding

or categorizing is an interpretive technique that both organizes the data and provides a

means to introduce the interpretations by reading the data and separating themes within it.

Each theme is labelled with a “code” word(s) or short phrase(s) that suggests how the

associated data themes inform the research objectives (Bowling, 2006). When coding is

complete, scoring of the results is prepared that consists of summarizing the prevalence of

codes, discussing similarities and differences in related codes across original

context/sources, or comparing the relationship between one or more codes (Boyatzis, 1998).

The author employed the prior research driven (b) approach which meant that most of the

codes applied to the themes in his study were themes that had been introduced in previous

research in his topic area. Categorization of themes on individual and environmental

stressors led to specific revelations(s), gap(s) and relationships (Boyatzis 1998, Hart 2006,

Aveyard 2007) that exist within the literature. This process enabled the author gain a better

understanding of the content of each article before combining the results although the

technique has been criticized for seeking to transform qualitative data into quantitative data

(Boyatzis, 1998).

3.2.5 Drawing a conclusion

Drawing a conclusion in a systematic review is based on the data analysis derived from the

research by systematically following the process of identifying relevant articles and keeping

track of the records. Based on the results, the conclusion ought to answer the research

question or show the reason(s) why one would or would not be able to reach a firm

51


conclusion. Therefore a conclusion not only sums up the main findings of the review, but

also reflects what was known on the topic and the gap(s) found that may lead to further

research (Hart, 2005, Aveyard, 2006).

3.2.6 Ethical Problems

The ethical implications of literature reviews have been described as being ‘rout with moral

and ethical’ complications as they draw on, build upon and interpret other peoples’

research. Issues of plagiarism, transparency, and interpretation of findings ought to be

respected by representing the researchers’ information/and or opinions (confidentiality)

(Rosen and Behens 2007). An example of this was the use of prior data and research as the

basis of development of themes which meant that the author respect other researchers’

assumptions, projections and biases. Reviewing the literature meant ethical approval was

not necessary however problems that could have ensued were if: the institution had tried to

exert influence/control or the dissemination of the findings.

The next section describes the methods utilised and how these methods contributed to the

final selection of articles for the study.

3.3 Method

Using the methodology outlined in the previous section, the methods used in defining the

review questions, searching strategy, determining the inclusion and exclusion criteria,

quality assessment criteria and thematic analysis are described.

52


3.3.1 Defining the review question

The initial stage of this study was to define and limit its scope by establishing clear

parameters. This was done by scoping articles on genetic screening and counselling topic

area. When searching the topic area there was several hundred articles and the researcher

limited the scope to address articles that deal with parent experiences of screening and

counselling. In the evidence scoped different researchers employed quantitative and

qualitative methods as appropriate to answering their questions. In regards to this study

articles that used qualitative methods to examine haemoglobinopathy screening and

counselling were considered of highest value. Articles that employed quantitative methods

used statistical analysis in order to produce data on the outcomes of screening for genetic

diseases.

3.3.2 Search strategy and sources

Literature relating to genetic screening & counselling for haemoglobinopathies dates back

from the late 1980’s, and the researcher has chosen to focus on research papers published

from 1995-2011 and this is because this is a time period, especially for the UK when there

was great progression made in terms of haemoglobinopathy screening policy and practice as

well as not being too dated in terms of relevance. Search and selection of articles for review

was determined using methodological methods and suitable search terms so as to select 10-

15 articles to be reviewed. Resources used to search for articles were as follows

Learning resource centre University of Bedfordshire

The first line of identifying literature relevant to review was the University of Bedfordshire’s

learning resource centre at the Luton park square campus which has a large selection of

53


journals, and other research & policy papers in the health and social care section. Assistance

is also available through the subject liaison librarian Janine Bhandol in accessing articles that

may not have been within the researcher’s reach due to lack of authentication or

subscription to those databases or journals.

Royal free medical library

The royal free medical library is located on the ground floor of the Royal Free Hospital with

multiple resources and information on medical science, nursing, health and allied health

professions and clinical medicine.

Computers in the library provide access to all UCL electronic databases, books & journals.

The computers also provide access to all NHS publications, electronic databases and

resources. The researcher gained access and use to this library through registering with the

library. Registration gave the researcher more access to electronic databases such as

Medline, Embase, PsycINFO and the Cochrane library.

Alerts - e-mail alerts were set up direct to the researcher’s university e-mail. The

“alerts” (Science Direct and Proquest) served as a reference indicator to the latest

articles that were possibilities for inclusion and as current information.

Online searches the search for full text articles from e-journals the respective

resources used helped to identify the majority of research papers relating to

antenatal and neonatal screening. It was evident when searching for articles that

many articles come from a variety of different sources i.e government

commissioned, independent research, and international sources.

54


Search terms - Boolean method Formulating search terms involved breaking down

into concepts for example: Haemoglobinopathy screening-neonatal screening for

haemoglobinopathies-parents experience of haemoglobinopathy screening. The

author started off his search by using the terms “haemoglobinopathy screening”

which realized thousands of hits. Widening the search using the Boolean operator

using the various AND, OR and NOT operators to reduce the number of hits. This

was done in two steps as shown below in table 3.4 And 3.5 below. The strategy was

repeated in all databases indicated.

Antenatal

OR

Neonatal

OR

Genetic

OR

Genetic counselling

OR

AND Screening

OR

Testing

Haemoglobinopathies

OR

Sickle Cell

OR

Thalassaemia

OR

Carriers for haemoglobinpathies

Table 3.4 Boolean search step 1

AND AND AND AND/OR

Parents’ Experience Screening Counselling Haemoglobinopathies

55


Or Outcomes Genetic screening

Mothers’ Decisions Or Or

Or

Womens Expectations Antenatal OR

Or Perceptions Neonatal

Patient

Or Communication

Outcomes

Table 3.5 Boolean search step 2

Databases - Searching databases included empirical literature, peer-reviewed journals and

grey literature. Each database was searched with a view to finding any reference to

screening for haemoglobinopathies. The number of articles found varied from one source to

another. In some databases like PUBMED, CINAHL and BIOMEDCENTRAL even with the

restriction on the publication date produced an unmanageably large number of articles, but

not necessarily in the context needed. Using alternative search terms produced fewer

results. The identified databases are shown in table 3.6 and the number of articles after

searching is shown in table 3.7 & 3.8.

Table 3.6 Identified databases/ Manual /electronic searches

Databases Manual Searches/ Hand Searches Electronic Searches

56


CINAHL Expert opinions and comments University library

catalogue

ABInform Global

(ProQuest, Science

Direct),

specialising in

management and

organisational

journals

Policy reports & research articles e-journals

BiomedCentral Online publisher of free peer-

reviewed scientific articles in all areas

of medical research and biology

EBSCOhost Information resources for

educational institutions in several

subject areas

British Nursing Index Key database for nursing midwifery

and healthcare topics

PUBMED

MEDLINE, focuses on

medicine and health

Health in different regions

57


Table 3.7 Combined search results

Databases

And

Journals

Number Number

after 1st

screening

Number

after 2nd

screening

PUBMED 108 82 53

MEDLINE 154 73 30

PsychoINFO

87 62 11

CINAHL 145 20 4

Table 3.8 Summary of removal of articles found in Boolean search using

inclusion & exclusion criteria

Numbers

Potential articles relating to Haemoglobinopathy screening specified in Boolean

search 2

494

Duplicate studies removed 237

Studies re-evaluated further 257

58


Articles excluded from the study

and reasons: -

excluded if pre 1996

excluded on intervention

excluded: study type

83

45

101

Removed articles with relevant information 1st evaluation 229

Articles with significant information after 2nd evaluation 28

The main purpose of summarizing the search information was to gain an understanding of

the articles and the approaches utilized in order to assess their relevance in answering the

research question before analysing further. In order to guide him in grading the relevance

of articles to be included in the study, the scoring system outlined in Table 3.9 was applied

on 28 studies. The researcher ended up with 10 of the best articles and went on to do an

analysis of them which is shown in the next chapter.

Table 3.9 CASP score assessment of articles (CASP 2008)

Relevance of objectives for

review question

Appropriate

methodology/ method

Value of research findings for

review question

SA = Highly relevant SA – Highly appropriate SA = High value

59


A = Some relevance A – Fairly appropriate A = Some value

B = Limited relevance B – Limited B = Limited value

Relevance + methodology + value = included in the study

By revisiting each theme and checking for a) name of the theme and b) no codes that would

be better fitted for another code enabled the researcher to know the themes development,

this was done in four stages: comparing and contrasting the results of the each study which

enabled the author group together all emerging themes that were similar/same to enable

her see the patterns developing that would then be described as the “main theme”. In step

4, the author compared the emergent (main) themes and similar emerging themes with

different descriptions but alluded to the same meaning were placed under a sub-heading

“sub-themes”. The main emergent themes from the literature were as follows

Information and consent

Risk perception and reproductive decisions

Responses/outcomes of screening

Communication of screening results

3.3.3 Determining the selection, inclusion and exclusion criteria

The aim of the search process was to select articles that would help answer the review

question. It was important that the selection of articles be free from bias which occurs when

decisions to include or exclude certain studies could be affected by the author’s experience

60


and opinions as a counsellor. By reading widely but selectively, considerations of themes

and ideas were developed and grouped together in order to find a focus criterion for

inclusion and exclusion. Considerations were based on the following questions from the

quality assessment criteria (CASP 2008) and Popey et al (1998)

Do the studies present one or different solutions on the topic area?

Are there different aspects that influence the topic area that are different or missing?

How well do the articles present the material and do they portray a methodology

that is appropriate?

What trends in the field are revealed and the current situation?

What is the criterion of selecting the articles?

The author determined the inclusion and exclusion criteria from several aspects: language,

timeframe, population, and study type and this is explained further in table 3.10 overleaf.

English is considered a universal language; thus selected articles were in English only.

Articles that were not only restricted to haemoglobinopathies were considered as some e.g

those dealing with expanded newborn screening could possibly provide relevant

information.

Table 3.10 Inclusion and Exclusion criteria

Parameters Inclusion criteria Exclusion criteria

Language Studies written in English Studies not available in English or English

translation

Time frame Published from1996-2011 Published before 1995

61


June (inclusive)

Population Focusing on parents

experiencing screening

No mention of parents, focusing on health

professionals/lab staff

Study type Primary research studies Book reviews, commentaries, editorials,

literature reviews, policy documents

Qualitative studies,

Quantitative studies,

Commentaries, systematic reviews, books,

editorials, policy documents

3.3.4 Determining quality assessment criteria

The quality assessment criteria employed were (CASP 2008) and Popey et al (1998). The

reason these frameworks were preferred was that they were quite simple to understand

and integrated works of other appraisal tools. Their accessibility and availability was

another reason for selection. Using the critical appraisal tools, one is able to assess the

strengths and limitations of the evidence in each article i.e. sample size, methodology, data

collection and analysis which ought to fit in the assessment criteria and also enabled the

author to identify methodological flaws in articles and to make informed decisions about

the quality of research evidence.

3.3.5 Thematic Analysis

The main focus was on studies related to haemoglobinopathy screening. Databases were

searched using key words, terms and criteria outlined above. Selected articles were then

screened utilizing the inclusion /exclusion criteria and quality assessment criteria. Following

62


a process of coding, coded themes relating to the research question were grouped together.

The author revisited the frequency of each theme checking for a) name of the theme and b)

codes that would be better fitted for another code which he then recorded the information

in a mind map and. By doing this the researcher was able to visualize the themes

development. A summary of the articles produced key themes and sub-themes associated

to individual described in the following chapter.

Chapter 4

Results

Based on the information in the previous chapter, the present chapter details the search

strategies applied and collated results of the 10 articles included in this study. A summary of

the results of articles reviewed and a concluding critique.

4.1 summary of articles used for review

Databases were searched using key words, terms and criteria outlined in the previous

chapter. Following a process of coding used in thematic analysis, themes for stressors and

coping strategies were grouped together as described in chapter 3. Selected articles were

then screened utilizing the inclusion /exclusion criteria and quality assessment criteria.

63


Using the critical appraisal tools and the SIGNAL scoring system the author was able to

assess the strengths and limitations of the evidence in each article. The evidence in the 10

selected articles was relevant to the study’s objectives. The quality assessment of the 10

studies is show in Table 4.1 overleaf

Following a process of coding used in thematic analysis, themes relating to antenatal and

neonatal screening as well as genetic counselling were grouped together as described in

chapter 3.

64


Author/

date/

Grades

Title of

study

Aim of Study Type of study

Information

Sample Analysis Main

findings

Strengths Weakness

(Shaw,

2011)

SA SA SA

Risk and

Reproducti

ve

decisions:

British

Pakistani

Couples’

responses

to genetic

counselling

To explore how far

ethnicity/culture/r

eligion mediate

couples’ responses

to genetic risk

Participant

observations of

genetic

counselling with

interviews in

participants

homes(Qualitativ

e)

62 Adults

who had

experienced

genetic

counselling

Quantifica

tion of

socio-

demograp

hic data

&Themati

c

framewor

k of

qualitative

responses

Most

couples

were

initially

“risk

takers”

having had

an

unaffected

child/childr

en.

Couples

Appropriate

research design.

Broad topic

guide.

Rigorous data

analysis

Not wholly

generalisable

because of

sample(speci

fic ethnic

background

from specific

area-high

Wycombe).

No mention

of Reflexivity

65


caring for a

child with a

severe

disorder

were more

likely to

postpone.

Risk

responses

of some

parents

changed

over time

as they

more

66


appreciate

d potential

severity of

a child

being born

with a

genetic

condition

(Atkin et

al., 2008)

SA SA SA

Decision-

Making and

Ante-Natal

Screening

for Sickle

Cell and

Thalassaem

Looking at how

faith and religion

mediate attitudes

towards screening,

prenatal diagnosis

and termination of

pregnancy for

Focus groups

(Qualitative)

Phase 1: talking

to people of

childbearing age

about influence

of religion in

Phase 1: 8

focus groups

(4-9

participants)P

hase 2: 4

focus

groups(4-9

Conceptua

l thematic

analysis

Decisions

about

whether to

have a

diagnostic

test related

to attitudes

Wide range of

sample=

generalisable.

Reflexivity

addressed

2 phase focus

groups with

Analysis of

conceptual

data as

opposed to

actual

subjective

experience of

67


ia

Disorders:

To What

extent do

Faith and

Religious

Identity

Mediate

Choice?

sickle cell and

thalassaemia

disorders

making

reproductive

decisions

Phase 2:focus

groups formal

religious &

community

leaders

participants) towards

terminatio

n of

pregnancy.

Faith

beliefs

emerged as

negotiable

and

contingent

realized

within a

broader

moral

framework.

similar topic

guides creates

valid

comparison of

the two

parents

68


When

making

decisions,

people

utilize faith

within a

broader

context.

(Ahmed

et al.,

2005)

A SA A

Antenatal

thalassaem

ia carrier

testing:

women’s

perception

s of

To explore the

attitudes of a

sample of

pregnant women

in the UK towards

informed consent

for antenatal

Mixed methods-

questionnaire &

interviews

110 Pakistani

women

found to not

be carriers,

14 of whom

were also

interviewed.

Grounded

theory

used for

qualitative

data/

Constant

comparati

While

informatio

n was

important

to women,

consenting

was not.

Combination of

grounded theory

and thematic

analysis ensures

maximum

themes can be

gained from

Reluctancy of

some

participants

to be critical

of health

professionals

.

69


“informatio

n” and

“consent”

thalassaemia

carrier testing and

perceived pre-test

information needs

for such testing

36 identified

as carriers

completed a

questionnaire

and were

interviewed

therefore

n=146

ve method “informatio

n” and

“consent”

were

discussed

as different

issues

data.

First study to

explore consent

for thalassaemia

carrier testing

Value of

study:

questionable

as findings do

not

necessarily

add to

existing

knowledge.

Most policy

& practice

recommenda

tions are

already in

place

70


(Waisbre

n et al.,

2003)

SA SA SA

Effect of

Expanded

Newborn

Screening

for

Biochemica

l Genetic

Disorders

on Child

outcomes

and

Parental

Stress

To compare

newborn

identification by

expanded

newborn

screening with

clinical

identification of

biochemical

genetic disorders

and to assess the

impact on families

of a false-positive

screening result

Prospective

study(Quantitati

ve)

N=258 Analysis of

children’s

developm

ent and

parental

stress

index

using two-

tailed

fisher test,

Wilcoxon

rank sum

test, and

spearman

Expanded

newborn

screening

may lead to

improved

health

outcomes

for affected

children

and

parents

however

false-

positive

Mixed methods

using

significance

tests on data

derived from PSI

and children’s

development

giving a clear

picture of

results of the

research

question

Inadequate

mention of

the

methodology

used making

the reader

“figure out

for

themselves”.

No mention

of blinding

Short follow

up long term

follow up

71


compared to a

normal result

correlatio

n test

respective

ly

screening

results may

place

families for

increased

stress and

parent-

child

dysfunction

required

determining

child

development

.

(Gallo et

al., 2010)

SA SA SA

Reproducti

ve

decisions in

people

with sickle

cell disease

Examine the

beliefs, attitudes

and personal

feelings of people

with sickle cell

disease and sickle

Focus

Groups(qualitati

ve)

N=15 Thematic

analysis of

qualitative

data

People

with SCD &

SCT have

diverse

beliefs,

attitudes

Sampling:

includes people

who have lived

and experienced

SCD/SCT within

their own

High median

age of

participants(

36 years or

older

therefore

72


or sickle

cell trait

cell trait related to

making informed

reproductive

health choices

and

feelings

about

reproductiv

e decisions.

Religious

beliefs,

norms and

practices

can have a

variable

effect in

decision to

have

prenatal

families may not be

generalisable

/

representativ

e of general

population)

73


testing

and/or

terminating

a

pregnancy

(Metcalfe

et al.,

2011)

A A SA

Parents’

and

Children’s

communica

tion about

genetic

risk: a

qualitative

study

learning

Study Explored

how genetic risk

information is

shared between

family members

and the factors

affecting it to

ascertain

implications for

children, young

Semi structured

interviews(Qualit

ative)

33 families

N=79

Grounded

Theory

Parents

identified a

number of

challenges

to

communica

ting genetic

conditions

to children

and many

Variation in

sample(experien

ce of from six

different genetic

diseases varying

in age of onset,

morbidity & life

expectancy)

Rigorous data

analysis creation

Potential bias

from

recruitment

of families

from social

support

groups

74


from

families’

experience

s

people and their

parents to inform

future service

development

thought

health

providers

should

provide

more

advice to

facilitate

them giving

appropriat

e

informatio

n.

Open

communica

of models of

family

communication

Novel research

with

Implications to

practice in

health & social

care

75


tion about

genetic

risks

throughout

childhood

helps

children

and

parents

cope better

and come

to terms

with

genetic

conditions

76


(Carroll

et al.,

2000)

B A SA

Women’s

experience

of maternal

serum

screening

To explore the

ideas, opinions,

feelings and

experiences of

women regarding

prenatal genetic

screening,

specifically

maternal serum

screening

Focus

Groups(Qualitati

ve)

Women who

had given

birth

between

1994-1996

N=60

Grounded

Theory/

Thematic

Analysis

Women

wanted

informed

choice

about

prenatal

genetic

screening.

Three

factors

influenced

womens

decisions

to undergo

screening:

Critical Analysis

of results done

by different

researchers

allowing for

comparisons of

interpretations

of themes

Findings

limited by

mostly

homogenous

group of

participants(

may not be

generalisable

)

77


personal

values,

religious

views,

quality of

informatio

n from

healthcare

providers

(Tsianaka

s et al.,

2010)

SA SA SA

Offering

Antenatal

Sickle Cell

and

Thalassaem

ia

To describe the

acceptability to

women being

offered antenatal

sickle cell and

thalassaemia

Semi Structured

interviews(Qualit

ative)

N=21 women Grounded

Theory/

Thematic

Analysis

Women

were

generally

positive

about

being

Large variation

of sample

participants by

ethnicity and

age.

Grounded

Small sample

size.

Most

participants

were not “at

risk”

78


screening

to

pregnant

women in

primary

care: A

Qualitative

study of

women’s

Experience

s and

Expectatio

ns of

participatio

n

screening in

primary care at

the visit to confirm

pregnancy, and

explore their views

for participating in

decisions on their

healthcare

offered

screening

in primary

care.

Participant

s identified

a strong

need for

more

informatio

n &

discussion

about

conditions

being

theory used for

informal

interpretation

before thematic

analysis.

Value of results

shows that

there are still

implications for

health providers

to give more

information on

antenatal

screening

therefore

which may

be a bias to

results

79


screened

for

(Locock

and Kai,

2008)

SA SA SA

Parents’

experience

s of

universal

screening

for

haemoglob

in

disorders:

implication

s for

practice in

a new

To explore

parents’

experiences of,

and attitudes

towards universal

genetic screening

for haemoglobin

disorders

Narrative

interviews(Qualit

ative)

N=39 Thematic

Analysis

1.Most

parents

were

unaware

screening

had

occurred or

given it

little

considerati

on

2.participa

nts

Maximum

variation sample

from all over the

nation.

Data analysis

was reviewed by

multidisciplinary

advisory panel

of experts on

haemoglobinop

athies.

Topic guide

covered wide

It was not

possible to

include

experience of

early

diagnosis of

children

affected by

sickle cell

disorders

following

newborn

screening.

80


genetics

era

emphasise

d antenatal

screening

should

happen as

early as

possible

3.parents

need to be

better

informed

on

screening

and results

4.culturally

range of issues

relating to

haemoglobinop

athy screening.

Value of

research is high

considering it

has wide range

of findings &

recommendatio

ns to healthcare

providers

Large

variation of

participants

left few

numbers of

people in

each ethnic

group,

further

research

would give a

greater

depth of

responses &

experiences

81


diverse

attitudes

towards

prenatal

diagnosis

and

terminatio

n

(Gurian et

al., 2006)

Expanded

Newborn

screening

for

biochemica

l disorders:

the effect

Mixed

methods(intervi

ews and

parental stress

index)

N= 240

173 parents

who had

received a

false positive

result

67 parents

PSI

analysis/

Thematic

analysis

False

positive

screening

results may

affect

parental

stress and

Mixed methods

approach gives

both compound

analysable data

and content for

thematic

analysis

Potential

sample

differences.

The disparity

in childrens

ages

between the

82


of a false

positive

result

with normal

screening

results

the parent-

child

relationshi

p.

Improved

communica

tion with

parents

regarding

the need

for

repeating

screening

tests may

reduce the

children’s

ages in the

false positive

and normal

screened

groups could

have caused

a bias

83


negative

impact of

false

positive

results

Table 4.1 summary of final 10 articles used for review

84


The findings of the study indicate the overall satisfaction for neonatal and antenatal

screening for haemoglobinopathies as well as genetic counselling. It is a direct method of

measuring whether the screening programme for haemoglobinopathies is fulfilling its aims

of reducing morbidity and mortality of children born with haemoglobinopathies, informed

choice for parents and also educating parents on inheritance and management of

haemoglobinopathies. Possible inequalities could be accessibility to the services offered and

information given through the service, possible language and understanding barriers,

insensitivity to the patient’s beliefs and culture, quality of care, consent and information

issues.

4.2 Methodological summary of results

Ten studies met the inclusion criteria and the collated evidence was summarized in Table

4.1 above. Eight studies utilised qualitative methodology. One article, (Gurian et al., 2006)

utilised a mixed methods approach and another article (Waisbren et al., 2003) utilised a

quantitative methodology. Of the studies using qualitative methodology, there were a

variety of study designs and theoretical methodologies used including interviews,

conceptual interviews, focus groups and experimental perspective designs. Within the body

of literature the common strengths in of all the articles were explored, investigated or

determined different factors that impact on issues related to antenatal and neonatal

screening for genetically inherited diseases. Although most papers were specific to Sickle

cell disorders, others that did not necessarily address them directly e.g the article by Gurian

et al (2006) were included because they explored some themes that were not explored in

85


the previous literature such as parental stress and the effect of a false positive result

received from a genetic test.

Most studies were conducted in the UK as this is the researchers focus area although 2

studies were from America (Gurian et al., 2006, Waisbren et al., 2003) and one study

(Carroll et al., 2000) was from Canada.

The studies employed different sampling techniques and had a variation of sample sizes. In

majority of the qualitative studies, purposive samples were utilized, which in some cases can

be a strength of a research study in some cases and a weakness in others depending on the

research question being addressed.

The possible reasons for similarities or differences between studies were qualitative

research is a field of inquiry applicable to many disciplines and subject matters (Denzin and

Lincoln 2000). Qualitative researchers aim to gather an in-depth understanding of human

behaviour and the reasons that govern such behaviour. Qualitative methods also serve to

investigate the why and how of decision making hence smaller but focused samples are

often needed, rather than large random samples (Miles and Huberman 1994) The

advantages of using quantitative and qualitative methods were to enable the author realize

several objectives of his study. Some of the objectives were better understood using articles

that employed both qualitative and quantitative methods. The rationale for this was; the

methods supplemented each other in that qualitative methods provided in-depth

explanations of experiences of haemoglobinopathy screening while articles that employed

quantitative methods provided techniques, designs and measures that produced hard data.

Hence, the subjectivity associated with qualitative methods was minimized by the

objectivity of quantitative methods (Depoy and Gitlin, 2006). The disadvantage of reviewing

86


quantitative and qualitative papers was the inexperience of the author, time and energy

taken to effectively draw out the themes, and the terminologies used.

Chapter 5

Data Analysis

This chapter describes the emergent themes from the papers collated in the previous

chapter. The descriptive explanation of the themes and what the articles describe as the

main issues relating to haemoglobinopathy screening and genetic counselling are detailed in

this section.

5.1 Themes emerging from the literature

The major themes relevant to the research question that emerged from the reviewed

studies were identified by the researcher as being Information & consent, perceived risk &

reproductive decisions, communication of screening results and outcomes/responses to

screening & genetic counselling. From the main and subthemes of the collated evidence

there was a degree of diversity and richness in the results analysed, there was also some

value in the discussions & recommendations of researchers. The main themes and

subthemes emerging from the literature will be tabulated in table 5.1- 5.4 overleaf.

87


88


Reference Emerging themes/subthemes

Ahmed S., Green J., & Hewison,

J(2005)

Perceived information needs

Relationship between information and anxiety

Information preferences

Barriers to obtaining information

Attitudes towards consent for thalassaemia carrier

testing

women particularly wants to pre-test information

if they had relatives with thalassaemia or aware

of their risk.

anxiety can result from pre-test information but

can be a means of reducing anxiety if a positive

result occurs.

Pre-test information should not be “too detailed”,

detailed information post-test if receipt of a

positive result occurs.

Many women did not know enough about the

conditions to ask health professionals questions,

non english speaking women compromised

information requirements.

Most women were not asked for consent for

89


testing(88.4%). Most women thought testing was

routine and had no choice in the matter but feel

have insufficient knowledge to make decisions on

testing. Three women were unhappy about being

test without prior consent.

Many women also suggested it was better for

health professionals to test without obtaining

consent as they may refuse due to lack of

knowledge

90


Waisbren, S.E et al (2003) Information about newborn screening 50% of parents with affected children rated

their understanding as inadequate

Education needed in respects to newborn

screening before child is born

Carroll, J.C. Information needs Women saw their physicians as a key source of

information

Women wanted information about genetic

screening as early as possible in their prenatal

care on decisions of testing and outcomes in

an accurate and unbiased manner

Tsianakas, V. et al (2011) Information needs

Informed consent

Many women felt that not enough time was

taken explaining the conditions for which

screening was being offered, the leaflet given

should be supplemented with a face to face

discussion

91


Many women felt GPs offered screening in a

way that facilitated choice but were

encouraged to undertake screening.

There is a gap between the information

women want and the information they receive

from health professionals

Locock, L. & Kai, J. (2008) Information about screening Many saw the test as being routine/mandatory

Many parents did not fully understand what

the heel prick test was testing for.

Responders would have liked more

information about screening

Screening information and offering of

screening should be done as often as possible

in the pregnancy

Gurian, E.A. et al (2006) Information about screening Majority of parents expressed a need for more

92


information about newborn screening results

Table 5.1 Information and consent themes related to genetic screening

93


94


Reference Emerging themes/subthemes

Shaw, A. (2011) Risk responses

Contingency of risk responses

Risk takers tend to downplay numerical risk

reflecting overarching desires for a

child/cultural and/or & religious beliefs

Risk responses change over time with

subsequent reproductive experience

Genetic responsibility challenges and

reinforces and reinforces the gender division

of labour

Atkin, K. et al (2008) Relationship between religious belief and

prenatal diagnosis

Decision to perform prenatal diagnostic

testing relates to attitudes towards

termination of pregnancy

Beliefs of persons are normally considered

95


within a broader social context and can be

flexible and contingent

Gallo, A.M et al (2010) Reproductive decisions/ options for people with

SCD/SCT

Some participants revealed they might make

different decisions had they known more

information on morbidity and mortality of

SCD

Reproductive decisions were based on

personal experience, religious beliefs,

cultural norms & practices.

Carrol, J.C & Reid, A.J. (2000) Understanding Risk

Decisions to undertake screening

Many women were confused about the

difference between a screening test &

diagnostic test

Women’s decisions were influenced by their

personal values beliefs and experiences as

well as information received on antenatal

96


testing

Tsianakis, V. et al (2011) Decisions to undertake screening: perceived

benefits of early screening, expectations of

screening and the need for information

Women expressed a desire for a healthy

child and needed to know about the health

status of their unborn babies so as to be

“good mothers”

Locock, L. & Kai, J. Religious influences on individual decision

making

Participants were influenced on a range of

personal, cultural social and religious values

Table 5.2 Perceived risk, decision making to undertake screening and reproductive decisions relating to genetic screening.

97


Reference Themes/Subthemes identified

Shaw, A. (2011) Risk takers

Postponers/managers

Change in risk responses

Scepticism of risk by associating it with public

health discourse of consanguineous

marriages, rarity of conditions,

contextualising risk with probability of having

unaffected children.

Some couples after having affected children

or having still births decided to have prenatal

testing, so as to make reproductive decisions

After genetic consultation the numbers of

managers had almost doubled, risk responses

change over time due to individual

98


reproductive experience, cultural and

religious factors and information from

healthcare professionals

Waisbren et al (2003) Development & medical outcomes of early

neonatal screening for children identified

Outcomes for parents whose children had an

early neonatal diagnosis

Outcomes of receiving a false positive results

Children identified by early newborn

screening had fewer developmental and

health problems and function significantly

better in diverse aspects of daily living.

Parents expressed lower levels of stress and

greater satisfaction with their support

network

Some parents however cited unfamiliarity

with metabolic disorder as a source of

dissatisfaction.

False positive diagnoses generate anxiety in

parents, that could give altered perceptions

99


of a child’s health

Gurian, et al (2006) Outcomes of receiving false positive result

from genetic screening

A false positive result from an expanded

newborn screening test may affect parents

perceptions of their childs health, parental

stress, and the parent child relationship.

Parents revealed a lack of understanding

regarding expanded newborn screening

Locock, L. & Kai, J(2008) Barriers to understanding screening results

Experience of counselling

Some participants were pleased they had

been able to talk to a genetic counsellor in

their own language however some were less

successful.

Most people at risk of an affected pregnancy

felt the counsellors were non-directive

however it emerged that it was important for

100


health professionals should be led and

explored by individual preference of a parent

Table 5.3 Responses/Outcomes of Screening & Genetic Counselling

Reference Emergent themes/subthemes

Ahmed, S., Green, J., & Hewison, J. (2005) Communication of a positive result On receipt of a positive screening result is

when detailed information about the

implications of said result should be given as

opposed to “information overload” at the

pre-test phase

Carroll et al (2000) Relaying of screening results Women wanted timely accurate results to be

given personally by their physicians and were

opposed to the “no news is good news”

philosophy

Locock, L. & Kai, J (2008) Communications of carrier results Most newborn results were sent by letter.

Antenatal results were more commonly given

101


over the telephone. Receiving a letter was

distressing. Phone call could still be a shock

but was preferred to receiving a letter

Table 5.3 communication of screening results

102


Chapter 6

Discussion

This chapter discusses the analyses described in the previous chapter drawing out the main

themes that emerged. The discussion includes describing the meaning of the themes and

their relation to the contextual ideas described in chapter 2; study outcomes and the

implications to practice.

6.1 Themes in context

Screening and genetic counselling for haemoglobinopathies presents a number of issues to

parents planning to have a child when they are at risk of having a child who may be affected

by a haemoglobinopathy. Although screening for haemoglobinopathy screening is offered

universally in the UK, healthcare practitioners still must consider factors that may influence

acceptability, reproductive decisions and health needs of parents in practice.

Based on the collated evidence and themes emerging from the 10 studies reviewed, it is

clear that there are a number of factors that can affect genetic screening for

haemoglobinopathies in primary care. The researcher has discovered that the main issues

revolve around information & consent, perceived risk & reproductive decisions of parents at

risk, communication of screening results, and outcomes of parents who have undertaken

screening.

103


6.1.2 Information and consent

In the article by Ahmed (2005), some participants requested more pre-test information if

they had relatives with thalassaemia or if they were aware that they were at risk of being a

carrier or sufferer. However some participants also expressed that more information should

be given post test as opposed to in the pre-testing phase as women may not be interested

or take information given regarded to the antenatal screening of haemoglobinopathies as

they may be focused on more issues regarding to their pregnancy. Conversely, participants

in some articles (Tsianakas et al., 2010, Locock and Kai, 2008, Gurian et al., 2006, Waisbren

et al., 2003) expressed that they had received inadequate information and poorly

understood the screening process as well as the implication of receiving a positive screening

result.

Across all studies, physicians are seen as a key source of information however it has been

indicated in some of the reviewed studies that they did not give enough information

regarding screening and that the leaflet given when screening is offered should be

supplemented with a face to face consultation. It has also emerged from some studies that

non English speakers have a barrier to receiving information and may compromise their

information needs so as not to seem to be “trouble makers” or “special needs cases” due to

their beliefs around the authority of doctors and midwives.

Across all studies it has emerged that screening should be offered as early in the pregnancy

as possible and that it is widely acceptable for screening to be offered at the first meeting

with a midwife of Physician to confirm pregnancy. However it has been cited by in some

studies that women think that screening for haemoglobinopathies is routine and therefore

mandatory for example in the study by Ahmed (2005) that 88.4% of women thought that

104


screening was mandatory. In Tsianakis et al (2011) participants felt that they were offered

screening in a way that facilitated choice but were encouraged to undertake screening. This

has been hypothesized as being a response to the thought that it is what is best for the

health of their baby and may be reinforced by the belief of the authority of health

professionals.

6.1.3 Perceived risk, decision making in parents consulted about

screening for Haemoglobinopathies & other diseases

In agreement with the seminal literature, reproductive decisions are based on the

individual/couples values, religious beliefs, cultural norms & practices. In most cases, a

decision to or to not undertake screening is usually superseded by the mother’s feelings

towards termination of pregnancy. Atkin et al (2008) mention that these decisions are

normally considered within a broader social context and therefore may be flexible and

contingent depending on the present circumstance of an indivual/couple. Tsianakis et al

(2011) cite that overall women desire to have a healthy child & be “good mothers” as is

dictated within their social circle and this can certainly contribute to risk response and

reproductive decisions.

When relaying the risks of having a child with a genetic abnormality, it was found in the

study by Shaw (2011) that participants would downplay numerical risk and still proceed to

plan having a baby without considering screening. This may be a reflection of

societal/cultural pressures of some minority communities to have children. However it also

emerged in the same study that risk responses can change over time with the couples

subsequent reproductive experience. It has also been cited by Gallo et al that knowledge of

105


morbidity and mortality of genetic diseases may lead parents to make different or more

informed reproductive decisions. Religions can also play a part in risk responses, and some

women being offered genetic screening may decline it seeing it as being in “God’s hands”.

6.1.4 Communication of screening results

As mentioned in Carrol et al (2000) “Women wanted timely accurate results to be given

personally by their physicians and were opposed to the “no news is good news”

philosophy”. In the study by Locock & Kai (2008), most newborn results were sent by letter.

Antenatal results were more commonly given over the telephone. Participants expressed

that receiving a letter showing a positive result of their child being affected by the condition

was distressing and that although a phone call could still be a shock it was preferred to

receiving a message in the post as it allows for the mother to ask questions of receive

reassurance from a health professional as it is possible for any concerns to be voiced. On

receipt of a positive screening result is when detailed information about the implications of

said result should be given as opposed to “information overload” at the pre-test phase.

6.1.5 Responses/Outcomes to genetic screening & counselling

In the study by Shaw (2011), by the end of genetic counselling, the number of risk takers

and postponers had reduced and the number of managers had increased by almost doubles.

This shows that genetic counselling had generally had positive outcomes, educating parents

and causing them to take reproductive decisions pro-actively. However in the case of some

parents, there was a belief that the alleged “genetic risk” was as a result of institutional

racism and public health discourse towards consanguineous marriage by the N.H.S. This may

106


show that some service users still consider service provision in maternal health as culturally

insensitive.

the literature suggests that children identified by screening have better developmental

outcomes and quality of life. This is also alluded by waisbren et al (2003). In this study,

participants also expressed lower levels of stress when receiving adequate post test

information however receiving a false positive result from neonatal screening can result in

anxiety, and altered perceptions of their child’s health especially when they still felt ignorant

toward the implications of having a positive result which was also seen by Gurian et al.

6.2 Relationship of themes to chapter 2

There are many factors that influence the success of screening for haemoglobinopathies. In

trying to understand the policies, frameworks and models of screening for

haemoglobinopathies were described and partially consistent to the collated themes.

Consistent with the discussions in the PLR chapter the collated themes pointed to the

following.

There is a need for organizations to develop policies and models of screening that

takes into consideration the information needs, personal values and culture of

people expecting a baby

There is a need for parents to be offered screening as early as possible in the

pregnancy and that adequate information must be given to mothers for them to

have informed consent in accepting screening

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Communication of screening results and genetic counselling require adequate follow

up to allow parents who have a child affected by a haemoglobinopathy to be more

knowledgeable of the implications

The relationship of the themes emerging from the systematic review to the PLR are shown

below

(a) information and consent

The theme of information and consent is consistent in the review and PLR as it has been

mentioned in some articles from the PLR that in some cases women being screened are

not given adequate information about screening and its implications and also in some

cases screened without their consent. It has been also mentioned in Green et al (2008)

in the PLR that there is an inadequacy of current procedures for informing informed

consent and although there is an attainment of knowledge there is a difference between

that and true understanding. This was also alluded to in the themes emerging from the

review e.g. in in Tsianakis et al(2010), Locock & Kai(2008), Gurian et al (2006) and

Waisbren (2003) expressed that they had received inadequate information and poorly

understood the screening process as well as the implication of receiving a positive

screening result.

As mentioned by several studies in the review, the primary physician is seen as a primary

source of information and is seen as a figure of authority. Many participants in these

studies saw screening as “best for them” and that the physician was encouraging them

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in their best interest. Does this truly correspond to parents giving informed consent to

participate in screening, which is considered standard protocol?

(b) risk responses and reproductive decisions

in the PLR it was said that outcomes of relaying genetic risk are sometimes below

expectations as the significance of being a carrier may not be clear to the counselee,

counselees being unable to remember information given through counselling, and simply

the fact that counselling is initiated by healthcare practitioners and not the parents in

question (Loader et al 1990). This is consistent with the emerging theme of the review e.g.

the study by Shaw (2011) that participants would downplay numerical risk and still proceed

to plan having a baby without considering screening.

(c) Communication of screening results

As mentioned in Carrol et al (2000) “Women wanted timely accurate results to be

given personally by their physicians and were opposed to the “no news is good

news” philosophy”. In the study by Locock & Kai (2008), most newborn results were

sent by letter. This was consistent with the PLR. Antenatal results were more

commonly given over the telephone sent in the post and this has lead to some

parents becoming anxious and unsure of the implications of a positive result and

parents would rather have results of neonatal tests given to them in person and

explained fully by a health professional

(d) Outcomes/responses to screening and genetic counselling

In the articles reviewed, genetic counselling generally had positive outcomes, educating

parents and causing them to take reproductive decisions pro-actively. However in the case

of some parents, there was a belief that the alleged “genetic risk” was as a result of

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institutional racism and public health discourse towards consanguineous marriage by the

N.H.S.

Participants in the articles reviewed expressed lower levels of stress when receiving

adequate post test information however receiving a false positive result from neonatal

screening can result in anxiety and altered perceptions of their child’s health especially

when they still felt ignorant toward the implications of having a positive result.

6.3 Implications and link to practice in EnfieldIn relation to the borough of Enfield, the collated evidence shows that there would be

(a) a need for accessible haemoglobinopathy screening services

(b) because of the the high population of at risk peoples in the borough it would be

worthwhile to find out the knowledge, attitudes, perceptions and outcomes of

screening for haemoglobinopathies.

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Chapter 7

The following chapter will detail the limitations of the research and the challenges that were

met by the researcher when conducting the research study. It will also detail

recommendations for further research and give a final conclusion to the study.

7.1 Challenges met by the researcher

The main challenge met by the researcher in the initial qualitative study that was planned

was encountered when he attempted to reach out to schools in the Enfield area and

communication of the study the researcher attempted to perform. As the researcher is not

currently affiliated with any NHS service, PCT or Hospital and only had status as a student

many of the gatekeepers at the various educational institutions declined to allow the

researcher to speak to the managerial staff of these institutions even after repeated phone

calls made. At the institutions where the researcher did manage to speak to a head of

school or manager there were more often than not unable to get authorization from their

schools board of director or upper managers.

In the 3 schools where authorization was given the researcher found that willingness to

participate in the study from parents was low. Indeed, many trials do not recruit sufficient

participants and this can make it more difficult to use the results of the research in practice.

Campbell et al (2007) found that only 31% of Medical Research Council (MRC) and Health

Technology Assessment (HTA) funded Randomised Controlled Trials (RCTs) achieve their

original recruitment target, while a further 53% required grant extensions to complete the

original trial. The researcher found that even those that were willing to give their contact

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information either later declined to participate or did not respond to calls and e-mails from

the researcher. Those that did were quite reluctant to be interviewed inside their own

homes citing that having young children at home would not allow them to commit fully to

the interview. The researcher was left with a very small sample that was not representative

of the wider Enfield area and therefore the qualitative study was scrapped as it was feared

that the data collected would not be of any value.

Although not the original plans of the researcher, the systematic review does give reliable,

feasible data that fits the parameters for answering the research question. There are

limitations however to using a systematic review to address the review question and these

are described in the next section.

7.2 Limitations of the study

There are a number of limitations to the study conducted analysed by the researcher. The

first of these is that the researcher has not conducted a full piece of research within the

health and social care discipline and as such is a novice at these type of studies since his

background is in pharmacology where most work is of a quantitative, lab based nature. This

may make the approach to identifying, critiquing and analysing the data may not be as

thorough as a researcher with more experience in Healthcare research.

Another limitation of the study is that the researcher was not always able to access articles

on databases that did not have open access and simply did not have the time and resources

to buy articles or get an interlibrary loan through the university.

112


Systematic Reviews tend to be done by a group of researchers so another limitation may be

that the researcher has a bias in the coding and thematic analysis of the data.

7.3 Recommendations

This whole study was of personal and significant value to the researcher, and would

recommend others to undertake qualitative and quantitative approaches in order to find

out what the outcomes and experiences of parents who have undergone

haemoglobinopathy screening in Enfield and other boroughs of London.

During this review of literature, it became evident that the characteristics of the study aim

pose significant challenges and are areas which the researcher could continue to explore.

Studies into these and other variables of haemoglobinopathy screening would inform

relevant authorities and professionals which could in turn influence policy and practice in

these areas.

7.4 Conclusion

The study conducted by the researcher sought to explore the needs, experiences and

outcomes of screening of parents who had experienced Antenatal and Neonatal

Haemoglobinopathy screening in Enfield. The study was at first designed to be a qualitative

study interviewing parents who had undergone screening within the past 7 years but due to

a lack of resources and time this could not be conducted and resulted in the researcher

deciding to critically review the relevant literature that was available exploring genetic

screening and counselling.

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The researcher located articles through searching various scientific databases, designed and

applied inclusion and exclusion criteria for articles found, and also appraised articles using

the C.A.S.P (2008) criteria so as to have a body of literature that was most appropriate and

reliable for answering the research question.

After appraisal of the review articles, the researcher then conducted a thematic analysis of

the papers, grouping together the research findings and dividing them into the major

themes and subthemes that existed in them. The researcher then discussed and critiqued

the findings of the reviewed papers and related them to the preliminary literature review.

7.5 Plans for dissemination

The finalised research will be shared with all PCT’s in the North London area for their

consideration and perusal and if possible the researcher will seek out publication for

possible use for the general public and other researchers. Presentation of the findings to

discuss and disseminate the key points and findings of the study will be offered to anyone

interested in the research.

7.6 Reflection on Learning

The topic of haemoglobinopathies has been an area of interest to the researcher having

previously conducted studies to this effect (undergraduate dissertation titled “Globin Gene

Analysis is a Ghanaian population”). Having previously used laboratory quantitative methods

to study and analyse blood spots of a sample population, it has been seen by the researcher

that in conducting this research study that he has vastly developed his knowledge in the

field and examined how diagnoses and screening are conducted in the clinical environment,

as well as gaining knowledge of the information needs, and experiences of patients who

114


have undergone genetic screening and counselling from the articles reviewed. In addition, it

has made the researcher more aware of systematic reviews as a methodology and how to

search, critique and analyse articles. The researcher has learnt the significance of screening

for haemoglobinopathies and how it can impact on expectant mothers and families. During

this study, it became evident that haemoglobinopathy screening posed significant

challenges (as described for the Enfield borough) and therefore the implications to practice

to other areas of public health nationally.

Although the researcher experienced challenges when attempting to conduct a qualitative

study, in changing his approach to a systematic review, he has gained valuable experience in

arguably two of the most challenging research approaches.

115


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Appendix 1

Cover letter sent to schools and nurseries in Enfield

Sifuma Andrew Njenga Bsc

Msc Public Health student

University of Bedfordshire

11 Anderson Close

Highlands Village

London N21 1TH

Tel House 02082457667

Tel Mobile 07958266502

e-Mail [email protected]

TO WHOM IT MAY CONCERN:

RE: MSc Dissertation in Public Health

My name is Andrew Njenga and I am currently pursuing a Master’s Degree in Public Health

at the University of Bedfordshire. As part of the requirements of the course we are required

to do a self funded research study on a topic of my choosing, and I have selected a study

with the title “Exploring Screening for Haemoglobinopathies in North London”. I have

chosen this topic as I am interested in genetics having a Bsc in Pharmacology and particular

the handling of genetic conditions in primary healthcare.

120


As detailed in the abstract of the dissertation which is attached, the methodology of the

project is a qualitative cross sectional study with semi-structured interviews being the main

method of data collection. I have identified your school as a good place to try and recruit

participants considering your location and access to parents with children under 5(therefore

have experienced neonatal and antenatal screening within the past few years). I would

therefore like to request if your school could please assist me with allowing me to recruit

participants from your grounds and also to use your facilities to interview mothers/couples

as I think this would be more appealing to them instead of me proposing to interview them

within their homes. I propose to start interviews in June-July.

I have attained a B grade for my dissertation proposal and have also received ethical

approval from the University for my study. The study satisfies all ethical and legal aspects of

health research and any recruited persons will be treated with the highest respect,

autonomy and dignity. Informed consent and the ability to exit the study at any time will

also be offered as standard for all participants. An incentive of book tokens for participants

will also be offered to participants.

If you require any more information, a copy of my dissertation proposal, or any other

documentation from the university or my supervisor do not hesitate to contact me either at

my e-mail address above or phone numbers provided. I would be very grateful for any help

that you can provide in me in completing my Msc in Public Health.

Yours Sincerely,

Sifuma Andrew Njenga

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Appendix 2 Sample Supplementary letter sent to schools in

Enfield

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Appendix 3

Interview topic guide/schedule

“I hope you don’t mind me recording this session”

1. Name

2. Age?

3. Ethnicity/country of origin

4. Were you born in the UK?

5. Level of education

6. Number of children

7. During your pregnancy did you find haemoglobinopathy services easily accessible

and convenient to get to

8. Were you offered antenatal screening by your attending midwife/GP in the first

trimester and informed and educated on the protocols, use of and ideas behind

screening

Within time

Were you given informed choice to not perform the screening if you didn’t

want to

Did you allow screening; if not why?

Were you informed of the choices available if you received a positive result of

having an affected foetus

Were you given enough information on the possible receipt of getting a

carrier diagnosis for yourself and/or the foetus

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How did you receive your results and was a screening test offered for your

partner?

9. Were you offered neonatal screening in the 3rd trimester of your pregnancy?

Were you given informed choice to not have the test done on your child

Were you informed on the procedure, protocols, analysis of sample and receipt of

results

Did the results come back within good time, and how did you receive them

Were you referred to a genetic counsellor in good time

10. As far as genetic counselling how was your experience with the counsellor.

Did you feel?

There were enough meetings with the counsellor?

Informative, easy to understand and

What would you improve about the screening and genetic counselling services in

the North London area and do you feel the services are adequate

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