Key Contacts 

Training Programme Director for Clinical Genetics: Dr Charles Shaw-Smith (Based at Exeter Hospital)

Head of School of Medicine: Dr Helen Waters
Associate Dean for Medicine: Dr Hui Lam

Education programme Manager: Naomi Mallinson

Education programme coordinator: Kayleigh Merry

Health Education South West (Peninsula) supervises all postgraduate medical specialist training in the Devon and Cornwall region for Clinical Genetics.

Information about the Specialty 

The specialty of Clinical Genetics deals with the diagnosis, investigation, and management of genetic disorders affecting not just individuals but also the immediate and wider family. Entry to Higher Specialist Training in Clinical Genetics at ST3 level requires attainment of MRCP and/or MRCPCH by the time of starting in post. A normal FT training programme lasts 4 years. Peninsula Clinical Genetics Service is based at the Royal Devon & Exeter Hospital (Heavitree site) but clinics are conducted throughout Devon and Cornwall, aiming at equitable access across the region, and the service has offices in both Plymouth and Truro, manned by administrative staff and genetic counsellors. Altogether, the service has well over 30 staff (an increase from 3 in 1993!). This includes 2 FT trainees.

Clinical genetics has relevance for all areas of medicine, and all age groups, with rapid advances in technology bringing much excitement to the field, with significant anticipated changes to clinical practice. Trainees need a desire to practice genetic medicine, the ability to keep up-to-date with the science and, crucially, the skills of listening and counselling in clinic.

Trainees gain experience in all areas of clinical genetics but have the opportunity to develop their special interest, which may involve undertaking a research project if appropriate. Individual rotations, attached to specific consultants, last from 6 to 12 months, according to training needs. There are opportunities to teach at both undergraduate and postgraduate level, and some audit must be undertaken. Trainees normally spend a block of time (3-4 weeks) in a genetics laboratory (including the Bristol laboratory) during their training.

The Peninsula service has 7 Consultants with the following special, and research, interests:

Dr Peter Turnpenny Paediatric genetics, dysmorphology, skeletal dysplasias abnormal Verebral segmentation, hypermobility, fetal anticonvulsant syndromes

Dr. Carole Brewer Cancer genetics, major contributions to national cancer genetic studies

Dr Julia Rankin Neurogenetics, local lead, the Genetics of Learning Disability (Cambridge)

Dr Emma Kivuva Prenatal genetics, disorders of sexual differentiation, local lead for DDD (Deciphering Developmental Disorders) study (Cambridge)and undergraduate teaching

Dr Claire Turner Cardiac genetics, imprinting disorders, and undergraduate teaching

Dr Charles Shaw-Smith Academic research, the genetics of gastrointestinal development

Dr Bruce Castle Prenatal, cardiac and cancer genetics, neurofibromatosis type 2

The 12th, 13th and 14th editions of ‘Emery’s Elements of Medical Genetics’, a medical genetic textbook for undergraduates, were written by Dr Peter Turnpenny and Prof Sian Ellard (Molecular Genetics, Exeter). The 13th edition received the BMJ Student Textbook Award for 2008. 

Annual Assessment Information

Trainees undertaking Higher Specialist Training (SpR or ST3+) are required to have an annual assessment (ARCP). By clicking on the your specialty you will find the requirements for your assessment.The checklists are by no means exhaustive and it is advised that you communicate with your Training Programme Director or Educational Supervisor for more detailled requirement information once you have been scheduled for an assessment Please use these checklists as a guide when preparing for your assessment. Its is your responsibility to check what is expected of you and prepare accordingly. The JRCPTB website is an invaluable source of assessment information.

The Training Hospitals

Royal Devon & Exeter NHS Foundation Trust

Related Sites

JRCPTB Website, Clinical Genetics