Session II: implications for clinical practice

5. Where to turn for help.

Fred Kavalier

Primary Care Geneticist, Guy’s and St Thomas’ Hospital NHS Trust

Dr Kavalier set the scene for GPs with pertinent examples of questions their patients might ask , now and in the future, such as “my first baby had Down’s syndrome, will it happen again?”, “I am getting married to my first cousin, will our children have genetic diseases?” and potentially questions about personal risk such as “which blood pressure drug is likely to be most effective for someone with my genes?”, “can you do the genetic test to tell me if I need to use sunscreen to go on holiday?” (the latter could well have been prompted by actual articles that appeared in the media).

While GPs are not expected to know the answer to every genetics question put to them, it is obviously important to know where to go for help. As well as talking to other GPs and specialists, and using sources such as libraries and the internet, Dr Kavalier stressed the importance and benefit of getting in touch with clinical genetics departments.

Clinical geneticists and genetics counsellors at regional genetics centres are happy to talk directly with GPs, and they take referrals in a variety of situations. They offer diagnostic confirmation when a genetic condition is suspected, counselling of couples with abnormal antenatal tests, counselling of individuals with a family history, advice about carrier status testing and the implications for potential offspring.

Dr Kavalier pointed out that despite this, certain groups of patients are under-referred to regional genetics centres, including people from ethnic minorities, non-English speakers, people who live a long way from a genetics centre and patients registered with particular GPs.

There are twenty-four regional genetics centres in the UK (four of which are in London): it is important that GPs know where their nearest centre is and how to contact it.

Useful publications:

List of regional genetics centres at www.bshg.org.uk

British Medical Journal genetics collection at www.bmj.com

New England Journal of Medicine series on Genomic Medicine