ukgtn 1st biennial report - uk genetic testing network

www.ukgtn.nhs.uk

UK Genetic Testing Network

First report of the UKGTN

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Supportinggenetic testing inthe NHS

First report of the UKGTN F

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2 Foreword

3 Letter from the Chair

4 Introduction to the UKGTN

9 The Patient Perspective

10 Gene Dossier & Directory Working Group

13 Laboratory Membershsip & Audit Working Group

16 Communications & Systems Working Group

20 Service Development & Clinical Appropriateness Working Group

23 The Commissioning Working Group

27 The UKGTN - next steps

28 Member laboratories

Contents

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HE UKGTN (UK Genetic Testing Network) has its origins in April 2001 in aspeech by the then Secretary of State for Health, the Rt Hon Alan Milburn. Heannounced the first wave of substantial investment in developing the geneticscapacity and capability of the NHS. The focus for the UKGTN was to supportequity of access to genetic testing services, especially for rare conditionsaffecting a small number of families. This has remained the touchstone for allthe UKGTN’s activities - to ensure that patients can get tests on the basis ofclinical need, not where they live.

I first became aware of the importance of the UKGTN’s work as I representedthe Department of Health at conferences and meetings in Europe. Its work,in particular to develop a robust framework for evaluating new genetic tests,is widely admired and envied by colleagues across Europe and beyond. Wealready know that other countries are keen to learn from this approach. TheUKGTN is truly an example of where we are at the forefront of innovation inhealthcare practice.

I know that, at various times over the past four years, some have asked whatthe UKGTN is. Is it the project team or the Steering Group and workinggroups, or the network of laboratories? The answer is that it is all of these.This is the UKGTN’s strength. It is a true collaboration with commissionersthat allows all these people to work together to the same end - to make themost of the resources available to the NHS and to provide a better service forpatients.

This report reflects not just the past year’s work but the UKGTN’sdevelopment over the past four years. I am delighted to have this opportunityto acknowledge the huge amount you have achieved and to thank all thosewho have given their time and expertise to make the UKGTN such a success.

Dr Mark BaleDeputy DirectorScientific Development & Bioethics DivisionDepartment of Health

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airHIS REPORT sets out the substantial amount of work undertaken by

genetic professionals to contribute to advising on policy, developing servicedelivery and information to patients. Our main aim, as always, is to helppatients access diagnostic investigations of a specialised nature for rare conditions, while seeking to ensure that the highest possible quality standardsin Molecular Genetic testing are delivered.

The working groups that are the engine room of the UKGTN continue to driveforward the programme with the support of the project team and advisers ledby a specialised services commissioning director. In addition, we collaboratewidely; for instance, a national conference was organised this year incollaboration with the NHS National Genetics Education and DevelopmentCentre to debate key issues.

Some notable successes from the UKGTN include:

The evolution of the gene dossier process including the development oftesting criteria;Collection of turnaround times for diagnostic tests to inform theDepartment of Health policy on delivery of the 18 week to treatment policy;Consultation on the document entitled ‘The evaluation of Novel GeneticTests and Complex Molecular Biomarkers’ to initiate debate on the futureevaluation of these tests;The UKGTN website which provides a depository of information forpatients and their representatives and genetics healthcare professionalsand which is continually updated;Work to establish a proposed methodology to calculate tariffs for diagnostic genetic tests and the implications for commissioning includingmodels to drive a consistent approach to currencies.

We do hope you find this report interesting. We will continue to engage withpatient representatives and colleagues about the work being undertaken.Your views on this work are very welcome as are any suggestions that willbenefit improving equity of access for patients to genetic tests where appropriate.

I would like to extend my thanks to the members of the expanded WorkingGroups and everyone involved with the work of the UKGTN

Professor Peter FarndonChair, UKGTN

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Letter from the chair

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UKGTN

Departments of Health

GenCAG

HGC

JCMG

NCG

NSCGSCGPCT

NGRLs UKGTN labs

NHS Trusts

CGS

CMGS

ACC

BSHG

AGNC

NHS National Genetics Education & Development Centre

PHG Foundation

GIG

GAIC

UKGTN links to professionaland other NHS organisations

Key

ACC Association of Clinical Cytogeneticists

AGNC Association of Genetic Nurse Counsellors

BSHG British Society of Human Genetics

CGG Cancer Genetics GroupCGS Clinical Genetics SocietyCMGS Clinical Molecular Genetics

SocietyGAIC Genetics and Insurance

CommitteeGenCAG Genetics Commissioning

Advisory GroupGIG Genetic Interest GroupHGC Human Genetics CommissionJCMG Joint Committee for Medical

GeneticsNCG National Commissioning

Group (formally NSCAG)NGRL National Genetics Reference

LaboratoryNSCG National Specialised

Commissioning GroupPCT Primary Care TrustSCG Specialised Commissioning

Group

HE UKGTN Steering Group is an advisory group established in 2002 as asub group of the Department of Health’s national Genetics CommissioningAdvisory group (GenCAG). The Steering Group first met on 17 September2002. The main issues that were felt important for the Steering Group toaddress included inequity of provision and funding, appropriateness of testing,sharing best practice, links with other networks and consideration of the rangeof genetic tests available.

In 2003 the UKGTN Steering Group invited the molecular genetics laboratoriesin the Regional Genetics Centres and a small number of specialist geneticslaboratories to apply for UKGTN laboratory membership. All the laboratoriesapplied and fulfilled the application criteria to become full members. Followingthe first wave of invitations a second wave of specialist laboratories wereinvited to apply. The current laboratory membership is listed on page 28. In2007 cytogenetic laboratories were invited to apply for UKGTN membershipwhere the laboratory provides specialist tests that would benefit from a networkapproach. The current testing scope of the UKGTN is for inherited geneticdisorders where a person either has symptoms or where there is a familyhistory. The UKGTN has evolved into a wider collaborative group of geneticslaboratories and their clinicians, specialised services commissioners andpatient representatives.

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Introduction to the UKGTN

UKGTN


The aims of the UKGTNThe primary aim of the UKGTN is to promote equity of access to high qualitygenetic testing services for all NHS patients in the UK. The core functions areto:

Approve laboratories for membership;Audit testing provision to highlight any areas where there may be inequityof access to genetic testing and to measure laboratories performance in meeting national standards;Evaluate new genetic tests for clinical utility and recommend new testing services for NHS funding;Provide information on the national services provided by member laboratories;Maintain an online database showing the laboratories that provide thetests listed in the NHS Directory of genetic tests;Advise the Genetics Commissioning Advisory Group and the Departmentof Health on new developments and provide a view on policies that impacton the provision of genetic testing services.

The UKGTN has evolved with notable achievements. The success of theUKGTN is dependent on the collaborative working arrangements of itsmembers. These achievements would not have been possible without thesupport and contributions from the member laboratories and from theenthusiasm and work carried out by the members of the Steering Group,Project Team and latterly the members of the working groups.

The UKGTN has:32 member laboratories.Developed and implemented a process and tools to evaluate new genetictests to be recommended for NHS funding This is commonly referred to asthe Gene Dossier process.Developed and implemented Testing Criteria to promote appropriatereferrals for genetic testing.Developed the NHS Directory of Molecular Genetic Testing, which lists allNHS approved genetic tests. Developed the UKGTN online database which details the laboratories thatprovide the testing listed in the Directory and the types of analysis thateach laboratory offers for each test.Developed the UKGTN website.Performed the UKGTN National Tariff Exercise to inform the Department ofHealth on methodologies to calculate national tariffs for molecular genetic testing.Performed the coding of genetic diseases with ICD-10 and shared thiswith the European Rare Diseases Task Force.

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Steering Group membersProfessor Peter Farndon (Chairman) Clinical Genetics Unit, Birmingham Women’s Hospital

Dr John Barber Cytogenetic Service, Wessex RegionalGenetics Laboratory, Salisbury District Hospital

Dr Ian BarnesNational Clinical Lead for Pathology

Dr David Baty Molecular Genetics Laboratory, Dundee

Dr Jim BonhamMetabolic Biochemistry Network,Sheffield

Chris BowlerGuys and St Thomas’ NHS FoundationTrust, London

Professor Nick CrossNational Genetics Reference Laboratory(Wessex), Salisbury

Dr Ann CurtisMolecular Genetics, Northern GeneticsService, Newcastle upon Tyne

Dr Rob EllesManchester National GeneticsReference Laboratory

Ms Deirdre FeehanPathology Modernisation, Department of Health

Dr Ian FraylingUniversity Hospital of Wales, Cardiff

Dr Marian HillDepartment of Clinical Chemistry,Queen’s Medical Centre, Nottingham

Alastair KentGenetic Interest Group

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Steering Group memberscontinued

Dr Roger MountfordCheshire and Merseyside RegionalGenetics Service, Liverpool Women’sHospital

Dr Fiona StewartClinical Genetics, Belfast City Hospital

Professor Karen TempleWessex Clinical Genetics Service,Princess Anne Hospital, Southampton

Dr Ron ZimmernDirector, Public Health Genetics Unit,Cambridge

UKGTN Project Teammembers

Developed models of commissioning for the National SpecialisedServices Commissioning Group to achieve a consistent model of commissioning.Provided a communication function including regular briefing notes,newsletter, patient information leaflet, responding to enquiries to UKGTNfrom members of the public and healthcare professionals.Jointly organised with the NHS National Genetics Education andDevelopment Centre a conference on promoting a clinically appropriate, quality assured and equitable genetic testing service for theNHSJointly organised with the PHGU (now the PHG Foundation) conferences for London and for the South West of England to provideinformation to commissioners as identified in each areaEstablished an infrastructure which assures commissioners of the quality and clinical appropriateness of genetic tests provided by member laboratoriesContinued to provide a horizon scanning function and requested that thePHG Foundation (formally the PHGU) conduct a review to evaluate theuse of array comparative genomic hybridisation (microarrays) in thediagnosis of learning disability. The UKGTN also asked the PHGFoundation to conduct a study to consider processes and mechanisms inmainstreaming genetic testing services using the Ophthalmology specialtyas an example.

How do we work?The UKGTN groups meet on a number of occasions throughout the year. Thefrequency of the meetings is dependent on the work required. The UKGTN alsolinks with a number of organisations and provides regular briefing reports to theNational Specialised Services Commissioning Group and to the JointCommittee for Medical Genetics.

The network is managed by the Steering Group, Chaired by Professor PeterFarndon. The current Steering Group membership is listed on these pages andincludes representation from molecular genetics and cytogenetic scientists,clinical geneticists, genetics commissioners, National Genetics ReferenceLaboratories, public health, NHS Trusts, patient groups and the devolvedcountries and representatives from other related networks.

A Project Team carries out work on behalf of the Steering Group and theUKGTN membership. The Project Team is directed by Jacquie Westwood andincludes clinical, scientific and public health expert advisers and a projectmanager. The current members of the Project Team are listed (left).

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Jane DellerUKGTN Project Manager

Dr Mark KroeseUKGTN Public Health Expert

Dr Peter LuntUKGTN Clinical Expert

Su StenhouseUKGTN Scientific Expert

Jacquie WestwoodUKGTN Project Director


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In 2006, five working groups were established to make recommendations to theUKGTN Steering Group. The work from these groups is co-ordinated by theProject Team. The Chairs of the working groups are members of the SteeringGroup but the membership is drawn from a wide range of organisations andincludes scientists, clinicians, commissioners and patient grouprepresentatives. The working groups make recommendations to the SteeringGroup and the Steering Group advises the Genetics Commissioning AdvisoryGroup.

The future The UKGTN will continue to evaluate new genetic tests for single geneinherited disorders to make recommendations for NHS service provision.However the UKGTN would also like to work towards developing TestingCriteria for tests that were placed on the NHS Directory for Molecular GeneticTesting prior to 2006 and which do not have consensus nationally agreedTesting Criteria.

The main focus of the UKGTN is to promote equity of access to genetic testing

Department of Health

Genetics Commissioning Advisory Group

UKGTN Working Groups

UKGTN Steering Group

Network of Laboratories

UKGTN Project team

Gene Dossier and Directory

Laboratory Membership and Audit

Commissioning

Systems and Communication

Service Development and Clinical Appropriateness

UK Genetic Testing Network

How the UKGTN works


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Working togetherDepartment of Health - England

National Services Division - Scotland

Health Commission - Wales

Department of Health Social Services and Public Health - Northern Ireland

National Genetics Reference Laboratories - Manchester- Wessex

NHS National GeneticsEducation and Development Centre

PHG Foundation

services in the NHS. We would like to measure overall access to genetictesting. In 2008 we will analyse data provided by our member laboratories forthe year 2007/08. A report will be produced presenting the results. It will alsoinclude discussion of the quality of the data, the interpretation of the resultsand propose recommendations for policy.

The UKGTN website will be updated to improve both the look of the site andthe usability. The online database will also be upgraded and be easier to use.The laboratories use an online system to update the information held abouttheir laboratory on the website and this system is being improved to decreasethe amount of time required for laboratories to use it.

The UKGTN will continue to work with the PHG Foundation (formerly thePublic Health Genetics Unit) based in Cambridge, to promote the proposalthat a mechanism and infrastructure should be developed to co-ordinate theevaluation of complex biomarkers for diagnostic tests that are beingconsidered for introduction as NHS services.

The UKGTN will continue to work with the National SpecialisedCommissioning Group to promote a consistent model of commissioning forgenetics services. The UKGTN will also continue to advise the Department ofHealth on national tariff development for laboratory genetics and continuelinking with the Health and Social Care Information Centre on coding issuessurrounding genetics services.

Useful WebsitesNHS National Genetics Education and Development Centre:

www.geneticseducation.nhs.uk

National Library for Health Genetic Conditions Specialist Library:www.library.nhs.uk/genepool

National Genetics Reference Laboratory – Manchesterwww.ngrl.org.uk/Manchester

National Genetics Reference Laboratory – Wessexwww.ngrl.org.uk/Wessex

PHG Foundationwww.phgfoundation.org

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HAVE been a member of the UKGTN since it was set up. Indeed, finding arational way of moving genetic tests from the research laboratory intomainstream clinical service delivery in a rational and equitable way has longbeen a priority for the Genetic Interest Group.

It is often the case that the research that has led to the discovery of the generesponsible for many single gene disorders has been possible only throughactive collaboration between clinicians, academics and the relevant patientsupport group - members of which may have contributed to the fundraisingeffort that underpinned the research, worked with the scientists to plan theresearch project and contributed samples and information that produced theresult. For many who have been part of this process it is baffling when whatmay seem to be an unreasonable delay occurs before the outputs from theirefforts are not put to clinical use. It is equally baffling when some members ofa family at risk may be able to access a genetic test when others in the samefamily may be denied the same facility due to variation in service provisionacross the NHS.

Prior to the establishment of UKGTN these apparent inconsistencies had to betackled on a case by case basis. While it is still the case that localCommissioners make the final decision about the provision of resources forgenetic tests, UKGTN has standardised and rationalised the process ofdetermining scientific validity and clinical utility. From a patient and familyperspective this represents a significant step forward. The inherenttransparency of this allows the possibility of challenge should the need arise.

During the time I have been a member of the UKGTN steering committee theemphasis of the network has shifted. At first it was largely on issues of technicalquality and on evidential requirements. While these remain very importantaspects of the Network’s activities, the remit now also takes in aspects ofcommunication, training and, as genetics advances, issues generated byunravelling the contribution that genetic testing may make to clinical practice.

The patient perspective is important in this process for several reasons. Firstbecause it acts as a reality check for the Committee, in that it serves as areminder of the situation facing the families dependent on access to high qualitytesting services to understand and manage the situation in which they findthemselves. Second, it provides a channel for communication about the workof the UKGTN to patient groups and the families they support. Third, it providesvalidation from the ultimate end-users for the robustness of the proceduresdeveloped – important in the context of a patient-led NHS.

I hope to have the opportunity to continue to contribute to the work of theUKGTN as it develops now and in the future.

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The Patient Perspective

Alastair Kent – DirectorGenetic Interest Group

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Members

Fiona Stewart (Chair)Clinical, Northern Ireland

Peter Lunt (Adviser)Clinical, Bristol

Mark Kroese (Adviser)Public Health, Cambridge

Anneke Seller (Adviser)Laboratory, Oxford

Jane Deller (Project Manager)UKGTN, London

Miranda SplittClinical, Newcastle

Sarah WhiteCommissioner,East Midlands

Maria PohlschmidtPatient Representative, London

Pritti MehtaPatient Representative, London

Diana PaineDepartment of Health, England

The ACCE Model

The acronym ACCE stands for the four key elements needed to evaluateany genetic test: Analytic validity; Clinical validity; Clinical utility; andEthical, legal and social implications.

Analytic validity: Defines the ability of a genetic test to measure accurately and reliably the genotype of interest.

Clinical validity: Defines the ability of a genetic test to detect or predict the presence or absence of the phenotype or clinical disease.

Clinical utility: The likelihood that the test will lead to an improved outcome and includes financial costs.

Ethical, legal and Ethical, legal and social implications of social issues a genetic test

HE UKGTN defines a genetic test as ‘... tests for germ line disorders wherenucleic acid is the analyte...’

In 2003, the UKGTN established the NHS Directory of Molecular GeneticTesting. The purpose of the Directory is to allow equity in access to genetictesting across the NHS. It confirms to commissioners and healthcareprofessionals the tests that are recommended for NHS service use. The latestversion of the Directory (January 2007) contains molecular genetic tests for 359diseases.

When the first version of the NHS Directory of Molecular Genetic Testing wasdeveloped, the UKGTN Steering group identified that a process was requiredto evaluate genetic tests for entry onto the Directory.

The gene dossier was developed based on the ACCE model and the Canadianexperience of genetic test evaluation. The gene dossier was specificallydeveloped by the UKGTN to be completed and evaluated in a timely fashion toallow the results to influence healthcare policy.

Gene Dossier ProcessThe gene dossier provides a standardised format for the presentation of the keyinformation about a genetic test. This is needed to inform the final decision onclinical utility and provision. Each gene dossier application requires thecollaboration between laboratory directors, clinicians and research scientists toobtain the necessary information.

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The gene dossier working group was established in 2004 to review completedgene dossiers in detail.

The working group meets three to four times a year and provides a summaryto inform the Steering Group, which makes the final decision on each genedossier. The list of approved tests is then placed before the GeneticsCommissioning Advisory Group for acceptance into the Directory and therequest is made to healthcare purchasers to consider funding these tests.

A gene dossier needs to be completed for a genetic test that a UKGTN memberlaboratory wishes to offer to other network laboratories and have included onthe national Directory. Tests developed and provided by individual laboratoriesfor their local populations only, do not require submission to the gene dossierprocess. These tests are provided by local arrangements between thelaboratory and its commissioners of healthcare. The UKGTN can request agene dossier submission for any test already on the Directory if there areparticular concerns.

Each applicant receives notification of the UKGTN Steering group decision anddetailed feedback is provided to those whose applications were rejected.

In 2005, the concept of test criteria was developed and incorporated. Testcriteria define the circumstances in which a genetic test referral may

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Having worked closelywith people affected bya genetic condition and

their families I know thatgenetic testing is an extremely sensitive issue. Myinvolvement in the GeneDossier Group enables me toput the views of the serviceusers forward to the healthexperts and ensure their interests are being considered.

It also gives me the chance tounderstand the process ofhow protocols are beingapproved and implementedby the NHS.

Understanding this process isvital for communicating thisknowledge to the peopledirectly affected by a geneticcondition and their families,managing expectation of theservice users and rectifyingany misunderstandings.

Being part of the this groupgives me an understanding ofhow this service is budgeted,should we need to put pressure on policy makers incase service provisionbecomes inadequate due tofinancial constraints.

Dr. Marita Pohlschmidt Representative of GIG Director of Research of theMuscular DystrophyCampaign

Outputs

In the period 2004 to August 2007 the gene dossier working groupreviewed a total of 73 gene dossier submissions. Of these, 59 wereaccepted, 12 were rejected and two submissions were withdrawn.

In the period 2005 to August 2007, the gene dossier working groupreviewed and agreed 49 testing criteria for genetic tests.

The gene dossier process has become a central component of thespecialised commissioning of molecular genetic tests in the UnitedKingdom.

The gene dossier working group reviews the gene dossier applicationprocess and application forms annually.

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The gene dossierprocess provides a

rigorous approach towardsassessing whether a genetictest is fit for purpose. It looksat how the test works,through to what might be thepatient impact if such a testwas routinely available on theNHS.

Scientific, clinical and patientgroup perspectives are integrated into this process.

While assessment of technical aspects of the testis more cut and dry,understanding the clinical utility and the patient impactis more value based, andthere is opportunity to bringfresh perspectives to thetable.

It is in this arena that the discussions often come alive,and it is here that the patientgroup perspective is particularly important.

The gene dossier process isone that I’m very proud to bepart of and I believe it caninform practice acrossmany boundaries.

Dr Pritti MehtaRoyal National Institute forthe Blind Service Development andResearch

legitimately be made, and ensure that the test is performed only when suchcriteria are met. The test criteria reflect the important features of a test such astarget population, the disease and the purpose of testing. A test may beperformed when a sample does not fulfil the published criteria, but this wouldrequire a discussion between the clinician and the laboratory specialist withjustification for carrying out the analysis.

With the support and efforts of the UK molecular genetics community and theUKGTN working groups, the standard of gene dossier applications hasimproved considerably.

The futureThe Gene Dossier and Directory Working Group will continue to develop theGene Dossier process to enable it to evaluate genetic tests which involve newtechnologies such as microarray based genomic hybridisation (array CGH).

The Group will also be evaluating molecular cytogenetic tests in the future andwill therefore expand its membership to include a cytogenetic laboratoryspecialist.

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HE LABORATORY Membership and Audit working group was formed to:Review membership against the laboratory membership criteria Assess and make recommendations for new laboratory applicationsReview laboratory membership criteria and procedures as required Review laboratory performance against agreed standardsDevelop simple methods and documentation to collect relevant laboratorydataProduce annual reports on monitoring including measures of access totesting services

The key pieces of work achieved by the group include the establishment of aprocess to monitor adherence to UKGTN membership criteria for quality;assessing cytogenetic laboratory applications; carrying out a pilot exercise toanalyse data submitted by laboratories to review provision of genetic testingservices across the UK; collecting reporting times as well as analysing thenumber of samples sent to laboratories outside the UK for testing.

UKGTN Laboratory Annual ReturnThe working group developed and introduced use of the Annual Return form tomonitor member laboratories’ compliance with the mandatory quality criteria.This form also provides an opportunity for laboratories to inform the UKGTN ofany changes to contact details and to the services provided to the UKGTN inthe event that laboratories have not had a chance to update this informationusing the online system.

New laboratory applicationsThe UKGTN was established in 2003. Regional Genetics Laboratories wereinvited to apply in the first instance followed by specialist molecular geneticslaboratories. In 2006 this was extended to cytogenetic laboratories providingspecialist testing that would benefit from a network approach. The definition ofa genetic test for the UKGTN continues to be testing for germ line disorderswhere nucleic acid is the analyte.

The Laboratory Membership and Audit working group revised the laboratoryapplication form for use by cytogenetic laboratories. In 2007 three cytogeneticlaboratories applied for UKGTN membership.

UKGTN national review of provision of genetic testing servicesA key aim of the UKGTN is to promote equity of access to genetic testingservices for NHS patients based on clinical need. To establish whether there isequitable provision of genetic tests to the UK population, it is necessary tocalculate the rate of molecular genetic tests provided per 100,000 people

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Laboratory Membership & Audit Working Group

Members

Ann Curtis (Chair)Laboratory, Newcastle




John DeanClinical, Aberdeen

Penny CloustonLaboratory (Molecular), Oxford

Gail NorburyLaboratory (Molecular), London

Kevin KellyLaboratory (Molecular), Scotland

Simon RamsdenLaboratory/NGRL, Manchester

Roger MountfordLaboratory (Molecular), Liverpool

Kim SmithLaboratory (Cytogenetics), Oxford

Mike BadmintonSpecialist molecular laboratory outsideRegional Genetics Centre, Wales

William Charles OwenPatient Representative, Wiltshire

Diana PaineDepartment of Health, London

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My daughter wasaffected by the rarerecessive disease,

Nieman-Pick Type C and diedfrom this just over two yearsago, aged 30. Such diseasesare a source of major distressto families and may havedelayed onset with otheraffected children being bornin the meantime.

My interest in genetics relatesto my desire to see rare diseases given greater prominence in genetic testingaimed at preventing defectivegenes, once identified, fromreturning to anonymity .

The concept of a networkseems essential for a field ofmedical service which willgrow considerably in the nearfuture. Implementation is welladvanced as are processesand procedures built on bestpractice from quality standards and technicalrequirements already established by professionalbodies. Nevertheless, integration of legacy systemshas its own not insignificantchallenges.

The development ofEuropean links will be important in the near future,especially for ultra-rare genetic diseases.

William OwenNeimann-Pick Disease Group

resident in a geographical area in a year. The distribution of rare geneticdiseases and low volume tests is expected to vary for valid reasons betweengeographical areas and different populations. By aggregating all the moleculargenetic activity including high and low volume tests for a particular population,an assumption can be made that all areas should, within certain limits, have asimilar level of overall genetic test provision if there is equity based on clinicalneed. Significant variation can then be investigated to identify possible causes.

The working group developed data collection forms and informed memberlaboratories of the requirement to collect data for this audit. The UKGTN hasrequested that laboratories submit data for the period April 2007 to March 2008.The laboratories have been asked to submit this data by 1 May 2008, for theUKGTN Project Team to analyse.

Reporting times of genetic testing results to cliniciansThe genetics White Paper ‘Our inheritance, Our Future: Realising the potentialof genetics in the NHS’ published in June 2003 stated that by 2006 test resultsshould be available to the following standards:Within 3 working days where the result is needed urgentlyWithin 10 working days where the potential genetic mutation is already knownWithin 40 working days for unknown mutations in a large gene

To determine whether these standards continue to be appropriate, theDepartment of Health asked the working group to co-ordinate the collection oftesting turn-around times from member laboratories. A pilot collection of datawas requested for the period January 2007 to March 2007. The results weresummarised in a short report and circulated to the laboratories for feedback.Some particular issues were raised during the pilot collection of data and thesewere fed back to the Department of Health. Data for the year April 2007 toMarch 2008 will be needed to determine trends and make conclusions.

UKGTN survey of patient samples sent outside the UK for testingThe Laboratory Membership and Audit working group undertook a survey tocollect data on the number of samples sent abroad for analysis, where they aresent and the costs incurred. The information was requested to inform theUKGTN and the member laboratories about patterns of export and to identifyany genetic tests which might benefit from being established within the UK.Data was collected for the period April 2005 to March 2006. It was found thatthe majority (~90%) of the tests sent abroad were for very rare disorders andthat samples were sent to a significantly large number of different laboratories.The data suggested that currently there was no need to set up a service withinthe UK for any of the tests sent to laboratories outside the UK.

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The future UKGTN national review of provision of genetic testing servicesData from member laboratories for the review of the provision of genetic testingservices across the UK should be submitted to the UKGTN Project Team byMay 2008. The Project Team will analyse data for the year April 2007 to March2008 and publish a report detailing the findings.

Reporting times of genetic testing results to cliniciansThe reporting times for genetic test results for the full year (April 2007 to March2008) will be collected and analysed to influence the Department of Health inreviewing the genetics White Paper standards.

UKGTN websiteLinking with the UKGTN Systems and Communications working group theLaboratory Membership and Audit working group will review the definitions ofthe service levels on the online database of tests offered by each laboratory.Furthermore the working group will consider alternatives for displaying thecosts of tests.

Laboratory membership criteria and process The ‘Process and Criteria for UKGTN Laboratory Membership as a Diagnosticor Technical Service Provider’ (available on the UKGTN website) has anappendix which details how the UKGTN will monitor quality. This appendixrequires updating and this will be reviewed by the working group.

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Outputs

Established the UKGTN annualreturn process to ensure laboratories continue to adhereto quality membership criteria.

Updated the laboratory application form and the processand criteria documentation.

Invited cytogenetic laboratoriesto apply for UKGTN membership.

Developed a database to holdand analyse the laboratory datato inform the audit on provisionof genetic testing services toNHS patients in the UK. Testedthe database by performing apilot of one week’s worth ofdata. Requested laboratoriescollect data for the year April2007 to March 2008.

Requested data on the turn-around times of testingagainst the standards detailed inthe genetics White Paper for theperiod January to March 2007.Analysed the data and reportedback to the member laboratoriesand informed the Department ofHealth.

Conducted a survey on thenumber of samples sent abroadto determine if there is a needfor a service to be establishedwithin the UK.

Applying for laboratory membership ofthe UKGTN

Please visit the UKGTN website to see the full membershipcriteria and to download an application form.

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HE SCOPE of the communications and Systems Working Group is to: Monitor, develop and manage the UKGTN website ensuring it is fit for purpose for all relevant stakeholders, has appropriate linkages (includingthe NHS National Genetics Education Development Centre and theNational Genetic Reference Laboratories), and informs the public andNHS about service provision and developments within UKGTN laboratories.Maintain an overview of IT developments and issues relevant to UKGTNlaboratories whilst ensuring there is representation from all stakeholdersand appropriate wider consultation is taken where appropriate.Collaborate with the PHG Foundation (formerly PGHGU) to deliver theGenetics Education and Training Programme for Commissioners as statedin the Genetics White Paper

UKGTN Website The UKGTN provides an annual report on the UKGTN website(www.ukgtn.nhs.uk). It provides basic information on how many people used itin the financial year 2006/2007, the number of times they visited, how manypages they looked at, how many hits it created and the total number of bytesdownloaded.

Report period: 1 April 2006 to 31 March 2007The number of unique visitors almost doubled since 2005/06 from an averageof 311 unique visitors per month in 2005/06 to 587 unique users per month in2006/07. In 2006/07, the number of pages a user is viewing per visit, numberof hits, and the bandwidth has doubled since 2005/06. From this we can inferthat users are accessing much more information in 2006/07 than 2005/06which can be accounted for by the increased number of functions beingavailable in 2006/07 compared to 2005/06.

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Communications & Systems Working Group

Members

Jacquie Westwood (Chair)Commissioner, London SpecialisedCommissioning Group



Diane BarnettPatient Representation, London

Paul DebenhamIndependent Sector Provider, London

Mary DavisLaboratory, London

Andrew DevereauIT/NGRL, Manchester

John EmslieIT/Laboratory, Newcastle


Alastair KentPatient Representation, London

Ann KershawGenetic Counselling, Cambridge

Shane McKeeClinical, Northern Ireland

Su StenhouseLaboratory, Scotland

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SystemsIn 2006 the group clarified in association with the Manchester NationalGenetics Reference Laboratory (NGRL) the current and continuing status todevelop SNOMED –CT and ICD-10 coding through the European andInternational groups undertaking the design of clinical coding for genetics.

The project team linked with the Department of Health in the development ofdata sets and data standards for genetics and approved these for the genetictest laboratory element. Where data standards already existed these wereadopted however there are some areas where coding is missing and these willbe incorporated when developed.

Communication Patient leafletThis leaflet describes information about the UKGTN and how it works focusingon access to genetic tests and how tests are accepted by the UKGTN for localcommissioners to consider providing funding. It was developed in close co-operation with Diane Barnett (Information Officer for Rare Diseases forContact-a-Family) the patient representative on the working group.

The UKGTN patient leaflet is available from the website athttp://www.ukgtn.nhs.uk/gtn/UKGTN-information/Patient-leaftlet.html.It has been distributed to all Heads of UKGTN Laboratories, to the Associationof Genetic Nurses and Counsellors, the Primary Care Genetics Society for GPswith a special interest in Genetics and to lead commissioners for distribution.

Bi Annual Conference This successful conference, entitled ‘Promoting a clinically appropriate, qualityassured and equitable genetic testing service for the NHS’, was held on 11October 2007. It was jointly chaired by Mark Bale, Deputy Director ScientificDevelopment and Bioethics Division, Department of Health, and ProfessorPeter Farndon (UKGTN Chair). The focus was on debating the key questionsfor genetic testing services and the impact on developing world classcommissioning. The conference was attended by 72 delegates who includedservice users, clinicians, scientists and commissioners.

The speakers discussed and asked questions on relevant aspects forcommissioners, clinicians, non-genetic health professions and laboratoriescovering such topics as understanding, targeting and ordering of genetic tests;testing criteria and the impact on clinical practice; the UKGTN – is it fit forpurpose?; UKGTN website – what can it do for you?; specialised servicescommissioning policy - implications for genetics and who will be the providersof genetic tests in the future?

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2006/07 WebsiteDevelopments

New search facilities for theonline database componentprovided.

Information for users on how touse the website has beenexpanded to including animated ‘how to’presentations.

The website structure has beenreorganised.

A Data Management System(DMS) has been released tothe UKGTN member laboratories so they can updatetheir own laboratory serviceinformation.


NewslettersTwo newsletters are published annually to keep stakeholders up to date withUKGTN developments and progress on the projects in development.

HotlineTo enable communication with all interested parties there is a dedicated phoneline and email address:

Telephone: 020 8298 6111Email: [email protected]

Enquiries can also be made by using the ‘Contact us’ facility on the website.

From April 2006 to end of March 2007 the UKGTN Project Team received 52enquiries. These came from clinical professionals, charities, members of thepublic, private companies and four from the media. This does not includeinternal enquiries from member laboratories, members of the UKGTN SteeringGroup, members that sit on any of the UKGTN working groups and theDepartment of Health. The enquiries from organisations and people outside theUKGTN are likely to increase as the UKGTN website is widely publicised andused. The UKGTN will continue to monitor the number and type of enquiries itreceives and will provide a report for the period April 2007 to March 2008.

Communication briefingsBriefing notes are regularly provided for meetings of the GeneticsCommissioning Advisory Group, the Joint Committee for Medical Genetics andthe National Specialised Services Commissioning Group (formerly theDepartment of Health & Local/Specialised Commissioning Groups). Briefingsare also provided for other groups on request for example the Association ofClinical Cytogeneticists, the Clinical Molecular Genetics Society and the BritishSociety of Human Genetics council meetings.

The futureSystemsThe NGRL at Manchester will continue to focus on informatics. This is in linewith stakeholder thinking about the absolute importance of a nationalinformation technology policy for genetic testing. In future the strategy will needto encompass the application of genetic testing criteria that should be metbefore a test is carried out. This approach to testing has received wide supportin 2007. Testing criteria will benefit by being included within a nationally co-ordinated IT system to encourage universal usage. The role of the ManchesterReference laboratory to stimulate the consideration of IT requirements will becrucial in enabling future developments.

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The UKGTN newsletter -UKGTN Brief - is published twice a year.

Copes are available todownload from thewebsite -www.ukgtn.nhs.uk

UKGTN BRIEF


UKGTN WebsiteSignificant developments are planned for early 2008 to further improve thewebsite presentation and design, improve the search facilities, introduce aworkflow management system and enhance the data management system forlaboratories.

CommunicationsThis annual report is part of the communication strategy to demonstrate theaccountability of the UKGTN to the wider community it serves. The UKGTN hasreceived wide recognition internationally and will continue to engage withpatient representatives and colleagues about the work being undertaken. Yourviews on this work are very welcome as are any suggestions for other areas ofwork that will improve equity of access for patients to genetic tests whereappropriate.

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Outputs

ICD-10 codes assigned to diseases in NHS Directory of Molecular GeneticTesting and shared with the Health and Social Care Information Centre andthe European Rare Diseases Task Force (www.rdtf.org). Provided input atan international level to develop ICD coding for rare diseases anddevelopment of ICD-11 by attendance at the Rare Diseases Task Forceworking group on coding and classification.

Systems and Communication working group members advised priorities fornew developments for the UKGTN website. A package of newdevelopments was agreed with the website developers.

Put in place an online system for laboratories to update information aboutthe testing services that they provide and which are listed on the UKGTNonline database.

Report on external enquires received in year 2006/07

The website structure was re organised.

Patient leaflet was published and distributed and is available form theUKGTN website.

Organised a well attended conference.

Publication of two newsletters.

My main interest was tohave a good patientleaflet and work with

others to achieve an easilyaccessible website given thatit was likely to be more usefuland used by professionals.

I am very happy that my contribution to making thewording of the PatientInformation Sheet clearer andmore user-friendly came tofruition.

I think one of the problemsfacing the UKGTN is meetingthe expectations of different groups of people.

Diane Barnett Information Officer (RareDisorders)Contact-a-Family

NOTE:The Patient Information Sheetis available from the websitewww.ukgtn.nhs.uk. If you donot have internet access, youmay obtain copies by contacting the Project Teamat the address and phonenumber on the back cover.

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HE Service Development and Clinical Appropriateness working group wasformed to review new developments in genetic testing services that are likelyto affect NHS services in the near future and to make policy recommendations.In particular the group has been assessing how the role of genetic testingservices will need to adapt to the requirements of the wider NHS, taking intoaccount pathology modernisation, and the requirements of relevant specialties. The main pieces of work delivered from the working group in 2007 include:

A consultation paper recommending the need for an organisation to beestablished to evaluate new diagnostic tests that are being considered forNHS service and to consider whether or not the remit of the UKGTNshould expand;A project to explore mainstreaming of genetic testing services usingOphthalmology as a test caseA project to outline the options for and implications of using commercialtesting services to provide the analytical component of genetic testing forthe NHS

The group is made up of a mix of public health, medical specialists,commissioning, clinical and laboratory geneticists, and patient grouprepresentatives. The group has close links (through the chair) with the PHGFoundation (formerly the PHGU, Cambridge), which has enabled partnership incarrying out pieces of work and producing reports from these. The relationshipbetween the PHG Foundation and UKGTN has necessarily changed in 2007when the funding stream for the PHGU changed and the organisation becamethe PHG Foundation.

UKGTN internal consultation on therecommendation for an organisation to evaluate new diagnostic tests for novel genetic tests and complex molecular biomarkers UKGTN currently evaluates new genetic (DNA) tests for classically inheriteddisorders, and a number of single gene inherited subset of complex disorderswhere DNA is the analyte. Genomic based tests, both constitutional andsomatic, and complex biomarkers are ever-increasing in their number andcomplexity, and in the specialist expertise required for their interpretation. Withthis in mind the Director of the then PHGU and the UKGTN Public HealthAdviser wrote a discussion document entitled ‘The Evaluation of Novel GeneticTests and Complex Molecular Biomarkers’. The UKGTN Steering Group met inSeptember 2006 and requested that all five UKGTN working groups beconsulted on the paper. Four questions were raised in relation to the UKGTNrole, which were passed to each working group for comment. The commentswere considered and synthesised into recommendations which were presented

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Service Development & ClinicalAppropriateness Working Group

Members

Ron Zimmern (Chair)Public Health, Cambridge



Christine PatchClinical, London

Jackie McCallPublic Health, Northern Ireland

Jenny TaylorClinical, Oxford

Steve HumphriesCardiovascular/Academic, London

Michael WrightClinical, Newcastle

Sue MatherCommissioner, North West

Prof Tony MooreOphthalmologist/Academic, London

Rachel ButlerLaboratory, Wales

Robin NottPatient Representation, London

Jessie Tetty Patient Representation, London


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to the steering group in September 2007. The paper has been circulated to anumber of organisations (listed on the right) highlighting the four UKGTNrecommendations:1. There should be a process for evaluating genome based tests and

complex biomarkers, as are or may be used in the NHS. UKGTN isprepared to offer an advisory role to help establish this.

2. UKGTN is prepared to accept requests for evaluation of complexgenome-based tests, or of other biomarkers in single gene disorderswith which we are already involved, through identifying key individualswho would be willing to be co-opted or recruited to provide appropriateexpertise as required.

3. A disease based approach for evaluation of all possible types oflaboratory test will be explored by the UKGTN as an exercise in 1 or 2conditions where non-genomic and genome based tests already havesome application (e.g. in colon cancer, FAP, or breast cancer),informed by existing relevant expert reports.

4. The distribution of this ‘biomarker’ paper, and attached summarycomments, to a range of organisations and forums, is to initiate debateon test evaluation, and on whether an over-arching body might berequired to facilitate and co-ordinate this.

Project to explore mainstreaming of genetic testingservices using Ophthalmology as a test caseA working party was established through the working group and the PHGFoundation to explore Ophthalmology as an example specialty to suggest aframework for future provision of genetic testing and management of geneticdiseases where the patient is primarily seen in mainstream clinical specialities.A first draft of the completed report was received by the working group inOctober 2007. The Commissioning working group has been given theopportunity to make comment before the report is finalised. It will be presentedto the UKGTN Steering Group for approval in 2008.

Project to outline the options for and implications ofusing commercial testing services to provide theanalytical component – the ‘assay’- of genetic testingfor the NHSDr Michael Wright, a member of the working group, led on work to provide anoverview of the current provision of DNA analysis for the diagnosis of geneticdisease within the NHS and to examine possible alternatives. The specific aimswere to discuss potential limitations of the current means of provision, discuss

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Recipients of thepaper ‘The Evaluationof Novel Genetic Testsand ComplexMolecular Biomarkers’Academy of Medical SciencesClinical Research ConsortiumGenetic Interest GroupGenetics Commissioning Advisory GroupHealth Technology AssessmentJoint Committee for Medical GeneticsJoint Medical CollegesMedical Research CouncilNational Commissioning Group National Genetics Reference LaboratoriesNational Specialised Services Commissioning GroupNHS Diagnostic LaboratoriesRnD Diagnostic GroupsRoyal College of General PractitionersRoyal College of Obstetricians and GynaecologistsRoyal College of Paediatrics and Child HealthRoyal College of PathologistsRoyal College of PhysciansThe Centre for Evidence-based Purchasing at the NHS Purchasing and Supply AgencyThe Medicines and Healthcare Products Regulatory AgencyThe National Horizon Scanning CommitteeThe National Institute for Health and Clinical ExcellenceWellcome Trust


alternative methods of provision of DNA analysis and consider the effects ofimplementation of these alternative models.

It is recognised that the demand for genetic testing is increasing year on yearand this affects both clinical and laboratory services. A large number ofrequests to genetic testing laboratories are from specialities outside clinicalgenetics. The most cost-effective way to provide testing services might be tobatch samples but this is not always possible for very rare conditions.Alternative models for provision of the ‘assay’ component of genetic testing areexplored in the report.

The working group discussed the first draft of the paper at their meeting inOctober 2007. The paper considers testing for single gene inherited disordersonly (the current scope of the UKGTN) but there is a recognition that the scopeof genetic testing within laboratories will expand to include susceptibility testingfor common disease and testing to inform responses to different drugs. Thereport will be presented to the UKGTN Steering Group for approval in March2008.

The future Drawing on the recommendations from the Ophthalmology report work will beundertaken to investigate how genetics could support the mainstreaming ofgenetic testing services and will include linkages with the cancer services. Theworking group would also like to explore a disease-based approach for theevaluation of laboratory diagnostic tests, using familial adenomatous polyposiscoli as an example, to follow up on one of the recommendations from theconsultation on the evaluation of novel genetic tests and complex biomarkers.

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As a lay member ofthe Committee, I donot know if the

Committee is fulfilling itsresponsibilities, or whetherthere are other matters theCommittee should beinvolved with. In particular Iwonder if the Committee isspending enough timeconsidering ‘the impact of developing NHS strategy and system reform on the activities of the UKGTN.

I should also very much welcome the opportunity tobring my experience andknowledge as a patient, alawyer and a scientist to bearmore directly on thework of UKGTN itself.

Robin NottPatient representative

Outputs

UKGTN internal consultation on the Evaluation of Novel Genetic Testsand Complex Molecular Biomarkers and subsequent wider circulation to anumber of organisations.

PHG Foundation published a needs assessment and service review onophthalmology services for genetic eye disorders for UKGTN SteeringGroup.

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HE UKGTN Commissioning working group aims to:Identify commissioning mechanisms, procedures and policies to facilitategood commissioning processes for genetic testing that fit within NHSsystems for commissioning;Consider the implications of commissioning policy initiatives and outputsfrom the other working groups;Undertake projects to inform those initiatives; and Put in place mechanisms to influence change in commissioning policy.

Key pieces of work from the group include the UKGTN National Tariff Exerciseand developing proposed models of commissioning to promote consistency incommissioning genetics in England. The working group members wereconsulted on the UKGTN National Tariff Exercise report before it was morewidely disseminated and an addendum was attached to the report detailing thecomments and issues raised. Three models of commissioning were discussedby the working group which led to a fourth model being developed andrecommended.

The UKGTN Public Health adviser and the previous UKGTN Scientific adviser(Dr Jo Whittaker – adviser March 2006 to February 2007) led on work todevelop a framework for the prioritisation of new genetic tests recommendedfor funding following evaluation through the Gene Dossier process.

Commissioning genetics in the NHSGenetic services are part of the national specialised services definition set andcommissioned by Specialised Services commissioners.

Following the publication in May 2006 of the Review of CommissioningArrangements for Specialised Services (Chaired by Sir David Carter) in which32 recommendations were made; the organisation of specialised servicescommissioning in England was restructured. There are now 10 SpecialisedCommissioning Groups (SCGs) in England (the devolved countriescommission genetics services separately and do not use the English model) coterminus with the Strategic Health Authority boundaries which were defined inJuly 2006. The populations that these SCGs cover range from two and halfmillion to seven and half million.

Primary Care Trusts are represented on an SCG. All SCGs report to theNational Specialised Services Commissioning Group (referred to as the NSCG)to co-ordinate specialised services commissioning across all SCGs whereappropriate.

Highly specialised services are commissioned by a national organisation called

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Members

Jacquie Westwood (Interim Chair)*Commissioner, London SpecialisedCommissioning Group




Ann DaltonLaboratory, Sheffield

Anneke SellerLaboratory, Oxford

Amber ApplebyNHS Trust Management, Newcastle

Trevor ColeClinical, Birmingham

Ian FraylingLaboratory/Clinical, Wales

Sue MatherCommissioner, North West

Alan BrowneCommissioner, Yorkshire

Chris BowlerNHS Trust Finance, London


*The late Kendal Bird chaired this groupfrom March 2006 to April 2007

The Commissioning Working Group

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the National Commissioning Group (this work had previously been the role ofthe National Specialised Commissioning Advisory Group – NSCAG). The NCGis a sub group of the NSCG.

Both organisations have transferred from the Department of Health to the NHSand are hosted by the London Strategic Health Authority.

UKGTN National Tariff ExerciseThe UKGTN was asked to carry out work to determine a methodology to derivetariffs for molecular genetic testing to inform the Department of Health Paymentby Results team.

The Payment by Results system for funding NHS healthcare is based on tariffsthat are set nationally, with NHS Trust Market Forces Factor applied separately.The tariff exercise was initiated in 2005 when the Payment by Results (PbR)system was expected to be rolled out to all NHS services by 2008.

Since the work began a number of lessons have been learned from theimplementation of PbR and it is unlikely that genetics will be part of the nationaltariffs in 2008.

The UKGTN National Tariff Exercise report details the methodologies used tocalculate testing tariffs and the data collected from the laboratories that tookpart in the exercise.

Tests were categorised into simple, medium and complex and tariffs calculatedfor each category based on expenditure and activity in the baseline year2004/05.

From this initial work the report recommends that two further test categoriesshould be included: ‘very simple’ and ‘highly complex’.

The report detailing the findings of the UKGTN National Tariff exercise wascirculated to all heads of laboratories, lead genetics commissioners, UKGTNSteering Group members, members of all the UKGTN working groups,GenCAG and CMGS members.

All respondents felt it was important that UKGTN continues to be involved indeveloping national tariffs for genetics and in working collaboratively to developa consistent model of commissioning.

However until standardised currencies have been developed and agreed, local

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The need for geneticsto be coded

The UKGTN report highlightsthe need for genetics to becoded and categorised for datafrom across the UK to be comparable.

This is also required for accurate annual reference costcollections which the PbR teamuses to calculate national tariffs.

The Systems andCommunication working groupare taking forward work to assistin the coding of genetic diseases and advising the relevant agencies.


prices should continue. It was highlighted that one of the difficulties indeveloping tariffs at the current time is that the cost base is unstable, due inpart to the introduction of automation which has yet to work through the system.

It was also suggested that the development of tariffs for testing should not bedone in isolation to the clinical element, that there needs to be furtherdiscussion on unbundling testing tariffs from the specialty tariffs and that thedevelopment of genetic testing tariffs should include all providers of genetictesting especially if testing is unbundled.

Commissioning modelsAt the inaugural UKGTN Commissioning Working Group meeting held on 27March 2006, members raised concerns about the variability in the mechanismscurrently used to commission genetic testing services across England. In lightof the introduction of Payment by Results, of national tariffs, of a review onspecialised services commissioning and of the creation of regional networks, itwas felt timely for the group to look at the commissioning mechanisms.

During subsequent meetings the working group members considered a numberof different possibilities for commissioning genetic services. The Project Teamis now taking the proposals from the working group to the NSCG and would liketo work with specialised services commissioners of genetics services to aim fora consistent method of commissioning the services.

Developing a Framework for the Prioritisation ofGenetic TestsThe UKGTN Framework for Delivery states: ‘the UKGTN will attempt to offer apriority for evaluated tests so that commissioners of specialised services canmake informed decisions relating to the areas they govern.’

The UKGTN Public Health adviser (Dr Mark Kroese) and the previous ScientificAdviser (Dr Jo Whittaker) were tasked to look at a possible framework forprioritising tests that had already been evaluated for clinical utility through theGene Dossier process and had met the criteria.

Currently, tests recommended for NHS service are not put in any order ofpriority for commissioners. A framework was therefore requested to determineif it would be possible to use a methodology to prioritise the tests that arerecommended for NHS service.

The UKGTN collaborated with the Public Health Genetics Unit to establish asmall working group to develop and pilot the framework. It was found that theinformation provided on the Gene Dossiers did not fulfil all the requirements

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Specialised ServicesNational Definition Set

The specialised services definitions were developedthrough national working groups(one for each service). Theyidentify the activity that shouldbe regarded as specialised andtherefore subject to collaborative commissioning arrangements.

Production of the SpecialisedServices National Definitions Setis an iterative process.

Over time new specialised services will be provided by theNHS whilst other services willbecome more common placeand cease to be specialised.

The second edition of the sethad 36 services defined as specialised.


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Outputs

Publication of UKGTN NationalTariff Exercise report

UKGTN Models ofCommissioning paper

Report on developing a framework for the prioritisation of genetic tests

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World-classCommissioners ...

Lead the NHS locally;Work collaboratively withcommunity partners;Engage with the public andpatients;Collaborate with clinicians toinform strategy, servicedesign and resourceutilisation;Manage knowledge andassess current and futureneeds;Identify and prioritiseinvestment requirements andopportunities;Stimulate the market to meetdemand and secureoutcomes;Drive continuousimprovement in quality andoutcomes throughinnovation;Secure procurement skillsthat ensure provides haveappropriate contracts;Manage performance ; Manage finances.

and more information was needed from other sources.

The results of the pilot exercise suggest that the methodology is valid androbust. However further development would be needed before it could be usedto influence commissioning decisions and a wider group of stakeholders wouldneed to be consulted to agree the criteria and the weighting. It wasrecommended that the process to prioritise tests should be separated from thatof evaluating genetic tests for clinical utility.

It was noted that the evaluation process for clinical utility should not beconfused with the prioritisation process. The latter is carried out to help decidehow limited funds will be distributed across a number of different serviceswhereas the former is carried out to decide if a test will be clinically useful.

The UKGTN Steering Group agreed that the UKGTN:Does not have primary responsibility for the prioritisation of genetic teststo be provided by the NHS.Should be involved in an advisory role, if a prioritisation programme wasestablished.Should not promote further development of this prioritisation frameworkuntil the testing criteria for tests already on the Directory have beendeveloped.

The UKGTN will continue to develop testing criteria for tests listed on theDirectory to promote appropriate referrals.

The futureNational tariffs for geneticsThe UKGTN will continue to work with the Department of Health on nationaltariff development for laboratory genetics. The issue around coding for geneticservices is being taken forward by the Systems and Communication workinggroup but also affects the commissioning working group for national tariffdevelopment.

Commissioning geneticsThe UKGTN will continue to work with the National Specialised CommissioningGroup to promote a consistent model of commissioning for genetics services.

The working group will review the development of technology and theimplications at a national level for commissioning genetic services.

The working group will explore the application of world-class commissioningcompetencies for genetics commissioning.

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HE UKGTN will continue to develop the evaluation process for new testsentering NHS service. This internationally recognised system of evaluatinggenetic tests for clinical utility and validity is continually evolving to take intoaccount new practices and technologies. The UKGTN will also explore adisease-based approach for the evaluation of laboratory tests and investigatehow genetics could support the mainstreaming of genetic testing services.

The UKGTN will continue to provide advice to the Department of Health onnational policies that impact on the provision of genetic testing services. Forexample, the UKGTN member laboratories are providing information ontesting reporting times to inform the Department of Health review of standardreporting times. The UKGTN will also continue to work with the Department ofHealth to influence the development of national tariffs for genetics and workwith the National Specialised Services Commissioning Group to developconsistent models of commissioning across England.

A key aim of the UKGTN is to promote equity of access to genetic testing forall NHS patients across the whole of the UK. In order to measure theprovision of genetic testing services, the UKGTN will analyse laboratory datafor the year April 2007 to March 2008, by region.

The UKGTN website will be upgraded and easier to use. The onlinedatabase, accessed from the UKGTN website, will be improved to make iteasier to search. It will also link to other websites such as the OnlineMendelian Inheritance of Man, the Human Genome Organisation and GeneReviews in order that users will be able to look up more detailed informationabout the disease for which the test is for.

The UKGTN Project Team would like to thank all member laboratories and allmembers of the various UKGTN working groups and the Steering Group fortheir invaluable contributions. The work of the UKGTN would not be possiblewithout the continued support of its members including the laboratories, thegenetics commissioners, the clinicians and patient representatives. Thank youto all our members.

The UKGTN - next steps

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The UKGTN – Supporting genetic testing in the NHS


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Diagnostic Members*

Aberdeen Molecular Genetics Laboratory All Wales Molecular Genetics Laboratory (Cardiff)Bristol Genetics LaboratoryCardiff SAS Porphyria ServiceCheshire and Merseyside Regional Molecular Genetics Laboratory (Liverpool)Dundee Molecular Genetics LaboratoryEast Anglian Molecular Genetics Laboratory (Cambridge)Edinburgh Molecular Genetics LaboratoryExeter Regional Genetics CentreLondon Haemoglobinopathies University College LondonLondon Institute of NeurologyLondon Kings HaematologyLondon North East Thames Regional Genetics Centre (Great Ormond Street Hospital)London North West Thames Regional Genetics Service (Kennedy-Galton Centre)London South East Regional Genetics Centre (Guys and St Thomas')London South West Thames Molecular Genetics Diagnostic Laboratory (St Georges)London University College London Hospitals Clinical BiochemistryNational Haemoglobinopathy Reference LaboratoryNorthern Genetics Service (Newcastle)Northern Ireland Regional Genetics Centre (Belfast)North West Biochemical Genetics Unit (Manchester Willink)North West Regional Genetics Centre (Manchester)Nottingham Regional Molecular Genetics ServiceOxford Regional Genetics CentreSheffield Molecular Genetics ServiceThe Royal Marsden Cancer Genetics LaboratoryWessex Regional Genetics Laboratory (Salisbury)West Midlands Inherited Metabolic Disorders (Birmingham)West Midlands Regional Genetics Laboratory (Birmingham)West of Scotland Regional Molecular Genetics Laboratory (Glasgow)Yorkshire Regional Genetics Centre (Leeds)

Technical Members*Laboratory of the Government Chemist

Laboratory Membership

*There are two types ofUKGTN laboratories:UKGTN Diagnostic Servicelaboratories offer molecular geneticanalysis, clinical interpretation andreporting. They conform to clinicalgovernance standards and will haveclinical accreditation such as CPA.

UKGTN Technical Servicelaboratories provide an analyticalservice for UKGTN diagnostic service laboratories. They do notprovide the clinical interpretation butreport directly to the referringNetwork laboratory.

It is within this context that technicalservice laboratories are UKGTNmembers. These laboratories comply with standards such as ISO17025.

A technical service laboratory canprovide a service for any referrerwho wishes to pay directly for theservice. In such a case the individual referring the sample takescomplete responsibility for the quality of the clinical interpretation.

The status of UKGTN membershipapplies only when a technical service laboratory provides a service to a UKGTN diagnostic laboratory.

Diagnostic and technical servicelaboratories must comply with allUKGTN membership criteria, exceptthat Technical service laboratoriesare exempt from complying withstandards specific to clinical interpretation.

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Contacting the UKGTN

The expert advisers can be contacted through the UKGTN Project Managerwho will pass your enquiry to the relevant expert. The administrative office

for the UKGTN is based in Bexley Care Trust.

UKGTNc/o Specialised Services

Bexley Care Trust221 Erith Road

BexleyheathKent

DA7 6HZ

email: [email protected]

telephone: 020 8298 6111

ukgtn 1st biennial report - uk genetic testing network

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