Primary care for patients at genetic risk

A priority for the European Union's concerted action on genetics services

Gone are the days when general practitioners could believe thatgenetics had little relevance to patients in their practice.Molecular genetics has thrown up opportunities for prevention,screening, and diagnosis, and the public is keen to have accessto them. Indeed, the forces driving community genetics may proveto be the catalysts to a general change in primary care in the21st century.

The clinical use of genetics should begin with general practitioners,backed by specialists in medical genetics. Primary care teamswill need further education, supported by specialist advice,if they are to bring the benefits of genetic advances to theirpatients. The jargon of risks and probabilities makes medicalgenetics seem complex and confusing, so the task is challenging.

How,for example, does a general practitioner counsel a womanwho has been told in the antenatal clinic that the serum testfor Down's syndrome gives her risk of having an affected babyas being 1 in 190, the risk being quoted in multiples of themedian? The vision of the genetic prediction of the risk ofcommon disease implies that general practitioners will be ableto answer questions from large …