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ROYAL DEVON & EXETER HEALTHCARE NHS TRUST
SPECIALIST REGISTRAR POST IN CLINICAL GENETICS
1. INTRODUCTION
This is a recognised NTN post, a replacement position following the appointment of a trainee to a
consultant position, and is available from early August 2011. It is anticipated that this post will be
filled through the national recruitment round for Clinical Genetics. It is a four-year, whole-time, non-
resident Specialist Registrar post based within the Peninsula Clinical Genetics Service (Devon &
Cornwall) of the South West Region, the main office base located in Exeter. The majority of the
training will be available within the Peninsula, though some key elements of laboratory training,
particularly Cytogenetics, will be provided in Bristol. The trainee will gain wide clinical exposure in
all major areas of medical genetics through attachments with the five (possibly 6) consultants, spend at
least the requisite time in genetics laboratories, and will gain a firm grounding in basic genetic science.
Ample opportunity exists to develop an area of special interest as well as pursue a substantive research
project. Although funding for the post does not cover periods devoted exclusively to research or
overseas experience, this may be encouraged according to the interests and needs of the trainee.
The post is approved for Higher Specialist Training by the Joint Royal Colleges of Physicians Training
Board (JRCPTB).
2. PREVIOUS GENERAL PROFESSIONAL / CORE MEDICAL TRAINING
The trainee must be a registered medical practitioner with a minimum of two years Core Medical
Training (CMT), although a longer period of CMT is preferred as a wide range of clinical experience
and skill is an advantage in Clinical Genetics. Ideally, CMT should include experience in the care of
both children and adults. The successful candidate will be someone who is ready to apply for a
National Training Number in Clinical Genetics and Membership of a Royal College is highly
desirable, either MRCP or MRCPCH.
3. THE PENINSULA CLINICAL GENETICS SERVICE
Background
The Peninsula Clinical Genetics Service (PCGS) has been based on the Heavitree site of the Royal
Devon & Exeter Hospital (RD&EH) since May 2004, and is part of the Directorate of Child and
Women‟s Health (Clinical Director: Dr. Vaughan Lewis, Paediatrician). For local administrative
purposes the service is also linked to the Directorates of Child Health in both the Plymouth Hospitals
(Derriford) NHS Trust and the Royal Cornwall Hospitals (Treliske) NHS Trust. The service grew out
of the appointment of a part-time research doctor in 1967 under Professor Freddie Brimblecombe,
looking into the prevalence and pattern of birth defects. A part-time consultant was appointed in 1985,
the position becoming vacant in 1992. A full-time consultant (Dr. Peter Turnpenny) was appointed in
1993, followed by Dr. Carole Brewer (8 PA) in 2000, Dr. Julia Rankin (8PA) in 2002, and Dr Emma
Kivuva (8 PA) in 2006. Dr. Claire Turner was appointed in January 2010 (6.5 PA), Dr. Charles Shaw-
Smith in September 2010, and Dr. Bruce Castle in November 2010. With the appointment of Dr.
Brewer it was possible to develop the Cancer Genetic service, Dr. Rankin has an interest in
neurogenetics, Dr Kivuva prenatal genetics and undergraduate teaching, and Dr Turner cardiac
genetics. Dr. Shaw-Smith has a 50% academic contract with the Peninsula Medical School. The
catchment population is covered by the Peninsula Strategic Health Authority. Although seven
consultants, part-time contracts mean that the establishment is equivalent to 5.1 wte.
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The service currently provides genetic clinics throughout Devon and Cornwall, total population ~1.6
million. Clinics are held in Exeter, Barnstaple, Torbay, Plymouth, Truro and Bodmin, as well as some
other small centres, with all aspects of medical genetics accepted as referrals. It is a goal of the PCGS,
so far as possible, to provide an equitable service throughout the Peninsula in response to demand.
The hospitals with close links to the PCGS are:
Royal Devon & Exeter Hospital District General with all major specialties
and designated Cancer Centre
North Devon District Hospital, Barnstaple District General Hospital
Torbay Hospital District General Hospital
Derriford Hospital, Plymouth District General with all major specialties,
including neurosurgery and cardiac surgery
and designated Cancer Centre
Scott Hospital, Plymouth Child Development Centre
Treliske Hospital, Truro District General Hospital
Staff and Resources
In addition to the seven consultants there are four Genetic Nurse Counsellors based in Exeter (4.0
wte), two in Plymouth (1.5 wte), and two in Truro (1.2 wte). One of the Exeter-based nurses covers
East Devon and Torbay whilst the other covers North Devon. Clinical staff are supported by
consultants‟ secretaries in Exeter, as well as part-time secretaries in Plymouth and Truro, and other
administrative and clerical staff in Exeter.
The department hosts two full time National Training Numbers—Specialist Registrars.
The computerised patient management system developed in Australia, KinTrak, was installed in 2007
and can be accessed and updated from the Plymouth and Truro offices. A library of genetics journals
and textbooks is located within the department in Exeter and additional genetics journals are held in
the Molecular Genetics Laboratory. The Exeter and Plymouth offices have video-conferencing
facilities.
Clinical Links and Special Clinics
Combined specialist clinics are held as follows:
Genetic / Ophthalmic, Torbay, JR with Tamsin Sleep, x2 / yr
Genetic / Ophthalmic, Exeter, CMB with Mr. Quinn, x2 / yr
Genetic / Ophthalmic, Plymouth CMB with Mr. Booth x1 / yr
Genetic / Orthopaedic, Plymouth, PDT with Mr. Jeffrey, x2 / yr
Genetic / Neurology, Exeter, JR with Dr. Gutowski, x3 / yr
In addition, ad hoc joint consultations with Fetal Medicine, EK
There is scope to increase the range of combined clinics.
Clinical links with colleagues from related specialties throughout the sub-region are very good. CB
attends many of the network cancer group meetings in the Peninsula, EK regularly attends the fetal
and perinatal meetings in Exeter, as well as Plymouth and Truro as time permits. Similarly, JR attends
the regular Peninsula neurosciences meeting in Plymouth on a monthly basis. Teaching opportunities
across many disciplines and in primary care exist.
Close links are maintained with the regional genetics services in Bristol, whose clinical service
currently comprises five consultants (Dr. Peter Lunt, Dr. Ruth Newbury-Ecob, Dr. Sarah Smithson, Dr.
Alan Donaldson and Dr. Susan Tomkins), two specialist registrars, and nine genetic counsellors/nurse
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specialists. The service provides clinics in Avon, Somerset, Gloucestershire and Bath. A Muscular
Dystrophy Family Support Worker is also based in Cornwall for the South West Peninsula. A
Huntington‟s Disease Family Support Worker for the Peninsula, funded by the Huntington‟s Disease
Association, works from her home base in Somerset. Reciprocal specialist clinic arrangements are in
place with Bristol colleagues, and can include attendance (by arrangement) at: neuromuscular, bone
dysplasia, craniofacial, ophthalmogenetic, endocrine/genetic, paediatric neurogenetic or mucopoly-
saccharide joint clinics, fetal dysmorphology meetings, and fetal medicine clinics.
A combined clinical-laboratory meeting with the Bristol-based genetics service takes place on a
monthly basis, usually by videoconference, and joint dysmorphology meetings (including Cardiff) are
held twice yearly.
Research Interests
A range of research interests are maintained in the department, as follows:
Dr Peter Turnpenny: abnormal vertebral segmentation disorders
joint hypermobility syndrome
fetal anticonvulsant syndromes
atypical haemolytic uraemic syndrome
In addition, joint supervisor of an EGENIS (Economic and Social Research Council
centr for Genomics, University of Exeter) PhD project on quality of life issues for
patients and families with Neurofibromatosis type 1.
Dr Carole Brewer: major contribution to numerous national cancer genetic studies
Dr Julia Rankin: local lead for the Cambridge-based study into X-linked mental
retardation disorders, the GOLD study—the Genetics Of Learning
Disability
Drs. Charles Shaw-Smith and Emma Kivuva: local leads for the national Cambridge-based
study, DDD—Deciphering Developmental Disorders.
Departmental staff regularly contribute peer-reviewed publications, both original research and
reviews, to the international medical literature.
Teaching
The department shares 4 PAs for undergraduate teaching in the Peninsula Medical School. The
activities include a series of Plenary Lectures, delivered during 3rd
year, regular Clinico-Pathological
Conference seminars, Special Study Units (Research in Action and Cancer Genetics), elective
attachments, and mentoring.
Many opportunities for postgraduate teaching to specialty groups and primary care exist. Most of
these occur on an ad hoc basis. In the past the department has run training days for trainees in
Learning Disability, General Practice, and a Cardiac Genetics day to which national experts were
invited speakers.
The 12th and 13
th editions of „Emery‟s Elements of Medical Genetics‟, a medical genetic textbook for
undergraduates, were written by Dr Peter Turnpenny and Prof Sian Ellard, with the 13th edition
receiving the BMJ Student Textbook Award for 2008. The 14th edition is currently being printed.
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Audit
Both the Exeter and Bristol Clinical Genetic Services are part of the South West of Britain (SWOB)
Clinical Genetics Training and Audit Group, comprising six centres in total. Meetings are held three
times a year, rotating between centres, consisting of an audit day and a training day on each occasion.
Laboratories
In 1995, following the appointment of Dr. Andrew Hattersley (now Professor) as Consultant Physician
and Senior Lecturer, the RD&EH established a Molecular Genetics Laboratory as a core facility, with
Dr. Sian Ellard (now Professor) appointed as senior molecular geneticist. In 2000 the laboratory was
designated the Centre for Molecular Genetics. A range of clinical molecular genetic tests are now
provided, complementing the service offered by the DNA Laboratory at Bristol, and the laboratory has
been accredited under the CPA scheme. The Exeter laboratory has semi-automated DNA sequencers
available for routine work. The main research interests of the laboratory are the molecular genetics of
type II diabetes mellitus, for which it has achieved an outstanding international reputation. The
laboratory also successfully cloned a new gene, DLL3, in 1999 as part of Dr. Turnpenny‟s research
interests in the genetic basis of abnormal spinal development, followed by the MESP2 gene for the
related phenotype. The Centre for Molecular Genetics embodies the Molecular Genetics Division of
the Institute of Clinical Science, Peninsula Medical School, chaired by Prof. Hattersley. There are
excellent opportunities to conduct collaborative clinical/molecular research with the Centre for
Molecular Genetics.
The Regional Cytogenetics (Mrs. Eileen Roberts) and DNA (Mrs. Maggie Williams) Laboratories
were combined into the Bristol Genetics Laboratory in 2007 and is located at Southmead Hospital,
Bristol, providing a comprehensive range of basic services in addition to molecular testing for areas of
special expertise, such as HMSN, FSHD and PKU. A regional Biochemical Genetics service (Dr.
Helena Kemp) is also located at Southmead Hospital, providing specialised testing for rare metabolic
disorders and screening; in addition, further specialised biochemistry is available at St. Michael‟s
Hospital, Bristol (Dr. Janet Stone).
4. ACADEMIC FACILITIES
The Peninsula Medical School
The Peninsula Medical School is founded on a unique partnership between the Universities of Exeter
and Plymouth and the NHS within Devon and Cornwall. The school was established on 1 August 2000
and commenced delivery of the Undergraduate Programme in the Autumn of 2002. In addition to
undergraduate teaching the mission includes a commitment to the delivery of Postgraduate Education
including a new Masters programme which commenced in 2002. All teaching is underpinned by a
strong research base with research focused in the Institute of Biomedical and Clinical Science,
Institute of Health and Social Care and the Institute of Clinical Education. Drawing on the strengths of
not one but two Universities and multiple health care partners throughout Devon and Cornwall, the
PMS has devised an exciting and innovative degree programme.
Years one and two of the Bachelor of Medicine, Bachelor of Surgery degree programme lay the
scientific foundations for the future years of the course. Students are introduced to clinical methods
and begin acquisition of a range of transferable skills, learning science within a clinical context. The
programme reflects the belief that doctors need to adopt a socially accountable approach to their work
and to understand the human and societal impact of disease as well as the community-wide context of
contemporary health care provision. The curriculum is structured around the human life cycle and the
first year student studies human physical and psychological development from birth through to death.
70% is “core”, providing the knowledge and abilities essential for entry into the Pre-registration House
Officer year and 30% is comprised of Special Study Units, which allow students to select areas of
interest to study in depth. In the second year students revisit the human life cycle, this time with an
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emphasis on disease and the pathological and psychological impact of illness. The Years 3 and 4
programme moves away from the traditional curriculum model to reflect today‟s evolving models of
care. Known as „Pathways of Care‟, Years 3 and 4 reflects the patient experience of care in acute,
primary and community care settings. Learning is patient centred. In year five students learn the job of
medicine and start to develop their understanding of principles of practice in the NHS. Students are
involved in a series of apprenticeship attachments; to consultants across the South West and to
Principal General Practitioners on a one-to-one basis throughout Devon (Plymouth, Exeter, Barnstaple
and Torbay) and Cornwall (Truro).
There is great scope for staff in NHS Partner Organisations to become involved in all aspects of the
Peninsula Medical School curriculum for undergraduate education; for example, clinicians may be
engaged with PMS as Clinical Skills Tutors, SSU Providers, and Academic Mentors.
The Institute of Biomedical and Clinical Science has developed several core “platform” technologies,
accessed by a range of clinician scientists. These include: molecular genetics; clinical microvascular
research; cell and molecular biology laboratories; the peninsula MRI facility on the St Luke‟s Campus.
Research in the field of diabetes and microvascular science is particularly strong with the University
of Exeter being awarded a Queen‟s Anniversary Prize for Higher Education in 2005 for the work of
Professor Andrew Hattersley and his team entitled “Using genetics to improve clinical care for
diabetic patients”. The Institute of Health and Social Care Research possesses core skills in
epidemiology (including genetic epidemiology), health technology assessment, concordance, access to
services and systematic reviews. Further details of the research strategy of the School and its partners
can be accessed on www.pms.ac.uk
The Research and Development Support Unit (RDSU)
The Trust holds a contract from the Department of Health to host a Peninsula wide Research and
Development Support Unit to facilitate NHS R&D in the implementation of Evidence Based Practice
in the research community. This Peninsula Unit, which was formed from three highly successful units,
involves networks throughout the Peninsula embracing both Primary Care Secondary Care and
supports all professional groups.
5. THE POST AND PROGRAMME OF CLINICAL TRAINING
The post is full-time (40 hours per week) with normal daytime working hours. Some flexibility is built
in to allow for travel and a full day‟s clinic work, e.g., in Truro (usually an 11-hour day). Out of hours
work is exceptional and the post does not attract any banding.
The training available will follow the guidelines of JRCPTB for Clinical Genetics as set out in the
published curriculum available on the JRCPTB website: www.jrcptb.org.uk . In addition to
opportunistic clinical and academic training, and direct supervision/regular tutorial, a more structured
training programme will be provided through the thrice yearly South & West of Britain Clinical
Genetic Training Days (SWOB meetings), and through the programme following clinical and staff
meetings on Wednesdays, weekly.
Training Plan
The appointee will be able to take advantage of the wide range of clinics available, both consultant and
genetic counsellor clinics. The detailed timetable of activity will depend on the particular interests of
the appointee and the availability of clinics at the time. In general, however, the appointee will be
expected to attend a minimum of two clinics per week and undertake preparatory work and research in
relation to all cases seen.
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In addition the trainee will be expected to participate in the following meetings as time and
departmental organisation allows:
Grand Rounds meetings, Exeter (+/- Plymouth, Truro) Weekly, term time
Devon & Cornwall clinical genetics staff meeting Weekly
Clinical laboratory meeting, Bristol Monthly
Perinatal meetings, Exeter, Plymouth and Truro Monthly (as permitted)
Dysmorphology Group Meeting, London Quarterly
South West Regional Audit Meetings Thrice yearly
National (and international) genetics meetings: BSHG, three days annually
CGS, two days annually
6. MAIN CONDITIONS OF SERVICE
The terms and conditions of service will be those agreed nationally for the specialist registrar grade.
Local terms and conditions offered by the Royal Devon and Exeter Healthcare NHS Trust will apply.
The postholder will be expected to live within reasonable distance of the main Exeter base.
7. CANVASSING
Candidates are asked to note that canvassing of any member of the Advisory Appointments Committee
will disqualify {see Statutory Instrument 1982 No. 276 paragraph 8(1)(b)}. This should not deter
candidates from seeking further information relevant to the post from those members of the Trust
detailed below and, further, this should not deter candidates from making informal visits to the Trust
which are encouraged.
8. ACCESS TO CHILDREN
The person appointed to this post may have substantial access to children under the provisions of Joint
Circular No. HC(88)9 HOC 8/88 WHC(88)10. Applicants are, therefore, advised that in the event that
your appointment is recommended you will be asked to complete a form disclosing any convictions,
bind-over orders or cautions, and to give permission in writing for a police check to be carried out.
Refusal to do so could prevent further consideration of the application. Attention is drawn to the
provisions of the Rehabilitation of Offenders Act 1974 (Exceptions) Order 1975 as amended by the
Rehabilitation of Offenders Act 1974 (Exceptions) (Amendment) Order 1986, which allow convictions
that are spent to be disclosed for this purpose by the police and to be taken into account in deciding
whether to engage an applicant.
9. REHABILITATION OF OFFENDERS
This post is not protected by the Rehabilitation of Offenders Act, 1974. You must disclose all
information about all convictions (if any) in a Court of Law, no matter when they occurred. This
information will be treated in the strictest confidence.
10. INTERVIEW EXPENSES
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Short-listed candidates called for interview will be entitled to reimbursement of reasonable expenses
(usually 2nd
class rail-fare) within the UK for attendance at the interview, and including any additional
reasonable expense required for visiting the Exeter site on the preceding day, or on an earlier separate
occasion, and for the candidate successful at interview, subject to acceptance of the post.
11. FURTHER INFORMATION
Informal enquiries will be welcomed as follows:
Clinicians in Speciality: Dr. Peter Turnpenny (Training Programme Director, Regional
Specialist Advisor, Royal College of Physicians)
Royal Devon & Exeter Foundation NHS Trust,
Gladstone Road,
Exeter EX1 2ED.
Tel: 01392 405726
E-mail: [email protected]
Dr. Carole Brewer (Joint Lead Clinician)
Tel: 01392 405727
E-mail: [email protected]
Dr. Julia Rankin (Joint Lead Clinician)
Tel: 01392 405728
E-mail: [email protected]
Dr. Bruce Castle
Tel: 01392 405724
E-mail: [email protected]
Clinical Director: Dr. Vaughan Lewis,
Consultant Paediatrician,
Royal Devon & Exeter Healthcare NHS Trust,
Barrack Road,
Exeter EX2 5DW.
Tel: 01392 406633
Molecular Genetics, Exeter: Prof. Sian Ellard
Molecular Genetics Laboratory
Royal Devon & Exeter Hospital
Barrack Road,
Exeter EX2 5DW.
Tel: 01392 402910
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INDUCTION PROGRAMME, SPECIALIST REGISTRAR in CLINICAL GENETICS
PENINSULA CLINICAL GENETICS SERVICE
The period of „induction‟ is taken to mean the time between starting in post and commencing a formal
period of attachment to one of the consultants. It could therefore be almost synonymous with
„orientation‟. It is hoped that the following elements of induction would be completed within a 4 week
period of starting in post.
1. Standard generic Induction Programme of the RD & E Trust, including scheduling mandatory
training in adult/paediatric resuscitation if necessary, and fire procedures.
2. Introduction to the Clinical Genetics Department, staff and premises in Exeter. Subsequently
with staff and premises in Plymouth and Truro at the earliest opportunity.
3. Discussion with Lead Clinician, description of service and key working relationships.
4. Individual meetings with all consultants in the department, including explanation of the roles
of Cancer Genetics Lead, Neurogenetics Lead, Prenatal Genetics Lead, Cardiac Genetics Lead,
and Lead for Peninsula Medical School teaching.
5. Meet with Secretarial Manager, departmental secretaries, and introduction to office
procedures.
6. Meet with Genetic Nurse Counsellor Lead and other team members at the earliest opportunity.
Arrange to join a GNC clinic and if possible accompany a GNC on a home visit.
7. Meet with Consultant Clinical Molecular Geneticist and staff of the Molecular Genetics
Laboratory and visit laboratory facilities.
8. Attend Combined Bristol Meeting at earliest opportunity and include specific meetings with
heads of Cytogenetics, Molecular Genetics and Biochemical Genetics & Neonatal Screening.
This introductory visit will include a brief tour of the laboratory facilities.
9. Meet with Training Programme Director
10. Meet with Head of Molecular Genetics Research in Exeter, and introduction to Research and
Development department.
11. Meet with Clinical Director, Lead Clinicians in Child Health and Obstetrics/Gynaecology,
Fetal Medicine Consultant, and Directorate Manager.
12. Meet with identified mentor.
13. Introduction to genetic databases and KinTrak. Discuss training needs in IT and arrange for
enrolment into Trust courses as appropriate.
14. Attend all departmental meetings over the period of the first 4 weeks in post and sit in to
observe the widest variety of consultant clinics over this period.