Clinical Genetics in the East of England

Clinical Genetics is the medical specialty which provides a diagnostic service and "genetic counselling" for individuals or families with, or at risk of, conditions which may have a genetic basis. Genetic disorders can affect any body system and any age group. The aim of Genetic Services is to help those affected by, or at risk of, a genetic disorder to live and reproduce as normally as possible. Clinical Genetics generally work in multidisciplinary regional genetic centres, along with genetic counsellors, molecular geneticists, and cytogeneticists. With the current fast pace of development in Genomic Medicine, they are increasing their roles integrating Genomic Medicine into Mainstream Medicine.

The Regional Genetics Service is based at Addenbrooke's regular clinics.  It also provides a weekly, fortnightly or monthly genetics clinic in the other main hospitals within the region (Bury St Edmunds, Lowestoft, Huntingdon, Ipswich, King's Lynn, Norwich, Saffron Walden and Peterborough).

Attractions of the Specialty 

Clinical genetics is mainly an out-patient specialty with normal daytime working hours during week days only. There is a vast range of conditions seen and the clinical variety and diagnostic challenges are probably unrivalled by other hospital specialties. There are opportunities to develop sub-specialist interests in; neurogenetics, cancer genetics dysmorphology, cardiac genetics, endocrine genetics, eye genetics, renal genetics, prenatal genetic, genodermatoses, genomic medicine and bioinformatics. However at present almost all consultants in Clinical Genetics maintain a general interest and hold clinics encompassing all of these aspects. There is wide scope within the specialty to combine clinical and research interests and academic research towards a higher degree is considered an integral part of training. Although the human genome project is complete, there is continuing close links with the Sangar Centre in Cambridge and close collaboration with many academic departments within the University of Cambridge and major national whole exome or whole genome sequencing projects (e.g., Deciphering Developmental Disorders, 100,00 Genomes) These ensure that clinical genetics remains an exciting and fast-moving specialty. More information can be found at the Clinical Genetics Society and the British Society of Human Genetics.

The training programme of 4 years is based in the Regional Genetics Service. The East of England Deanery training programme provides training in all aspects of the curriculum through a combination of both general genetics clinics, specialist clinics, ward referrals, laboratory attachments in our region and opportunities for participation in specialist training in the four London training centres and elsewhere. General clinics are held at Addenbrooke's and at district hospitals throughout East Anglia (Hinchingbrooke, Peterborough, Queen Elizabeth II Hospital in King's Lynn, West Suffolk Hospital at Bury St Edmunds, Ipswich, Norfolk & Norwich Hospital in Norwich and Saffron Walden. Specialist clinics in cardiac genetics, eye genetics, neurogenetics, Huntington Disease, cancer genetics, endocrine genetics, renal genetics, prenatal genetics and paediatric genetics are held at Addenbrooke's. Trainees will combine experience in general clinics with exposure to a variety of specialist clinics during their period of training. There are also plenty of research opportunities as several members of the department have active research interests involving neurogenetics including primary microcephaly, pain genetics, intellectual disability and Hereditary spastic paraplegia, genomic disorders, renal genetics, and many more aspects of cancer genetics. This is based in the Academic Department of Medical Genetics at Addenbrooke's. There is also the opportunity to apply for the Post Graduate Certificate in Genomic Medicine and ample opportunities for research throughout the Addenbrooke's Biomedical Campus, The University of Cambridge and the Sangar Institute in Hinxton.