Fiona Lalloo demystifies what is involved in this rapidly expanding specialty
Mentioning that I'm a clinical geneticist in a conversation is a sure fire way of eliciting a blank stare for a few moments followed by the words “But what do you actually do?” Well, the first point is that we are “real doctors” and we don't spend our lives in laboratories, either molecular or cytogenetic. A recent issue of the BMJ (28 April 2001) was entirely devoted to new advances in genetics.1 This focused on its current and potential impact on medicine. However, the specialty of clinical genetics remains a mystery.
One of the best kept secrets in medicine is the wide variety of issues covered by clinical genetics. It is one of the last truly generalised specialties, encompassing both adult and paediatric medicine. It is also unique in the approach to caring for families as well as individuals within a family. The Clinical Genetics Society recently issued a document