Programme: Academic/Clinical Genetics – based at Northwick Park Hospital Type of programme This is a 4 month research and clinical placement in Genetics. Brief outline of department The North West Thames Regional Genetics Service (NWTRGS) is a fully integrated, diagnostic genetic service, which provides cytogenetic, molecular and clinical genetics services for a population of 3.6 Million in North West London, Hertfordshire and Bedfordshire. The clinical geneticists and genetic counsellors provide an outpatient-based diagnostic and counselling service at Northwick Park Hospital and numerous outreach clinics. Individuals with a genetic disorder, or relatives at risk of a genetic disorder, are seen and advised of the causes and consequences of the disorder, the risk of developing or transmitting it and the options available to them such as tests, treatment or prevention. Clinics are also held for those where there is a familial history of cancer. Further information can be found on the Departmental website: http://www.nwlh.nhs.uk/services/genetics/ Structure of academic project/what expected The AF2 year is based at Northwick Park Hospital and will include four months of A&E, 4 months of Gastroenterology, and 4 months of clinical/academic genetics. Research plays an integral role in clinical genetics. In addition, the impact of genetics is increasingly relevant in all branches of mainstream medicine. It is our aim to provide an opportunity for AF2s to develop key skills required for an academic career at the same time as gaining experience of clinical genetics and an understanding of the role of this specialist service within the NHS. The AF2s conduct a research project during their time in the department. Projects might be clinical or laboratory based. The aim of the project is publication in a peerreviewed journal. Typically, AF2s spend two days per week on the research project and three in the clinical area, but this is variable. Previous AF2s did projects within the department, but others were based at a variety of academic department within Imperial College. Projects are tailored to the individual’s long term career aims and are discussed several months before placement starts, to allow planning. Examples of previous projects are: Ehlers Danlos Syndrome, Hereditary Haemorrhagic Telangiectasia, Congenital Myopathy, Silver-Russell Syndrome, Familial Phaeochromocytoma, and Familial Adenomatous Polyposis. By the end of the 4 month placement the AF2 is expected to draw family trees and examine for common genetic conditions (Neurofibromatosis type 1, Marfan Syndrome etc), supervised by a consultant. All AF2s are expected to write a case report during their time in the department. There are always interesting cases available. Previous AF2 were very successful and there have been multiple publications. AF2s are also encouraged to carry out an audit project within the department. Clinical commitments during academic placement The AF2 mainly works with the clinical genetics team. The work is entirely outpatient based and working hours are 9-5 Monday-Friday. Entry level is ST3, so AF2s are supernumerary. The AF2 attends clinics (typically two per week, but often a single whole day clinic), and is expected to prepare the clinic in advance and discuss with the consultant. Referrals include general, paediatric and cancer referrals. Clinics take place at Northwick Park Hospital and various other locations throughout the catchment area of the service. Departmental academic teaching programme (if applicable) In-house teaching and academic seminars provide basic knowledge and insight into the range of research opportunities within this specialty. Since there is close liaison between clinical and diagnostic laboratory staff within the department, trainees are able to observe the work of the diagnostic molecular and cytogenetic laboratories. Weekly meetings are held to discuss results with laboratory staff. Trainees are allocated an academic and clinical supervisor responsible for overseeing progress throughout the attachment and providing further career guidance. Academic Lead: Dr Birgitta Bernhard Consultant in Clinical Genetics b.bernhard@nhs.net