The new genetics. What are the everyday clinical applications?

Our understanding of human genetics has changed exponentially in recent years, but genetic research is sometimes perceived as an esoteric and expensive pursuit with few practical implications for the majority of the population. As the human genome project nears completion, we need to assess how we can use this vast knowledge effectively.

To focus on the role of new genetics in the understanding of both single gene disorders and the inheritance of complex traits (which have genetic and environmental components) and to discuss the role of the general practitioner (GP) utilising this knowledge in daily practice.

Genetic data is often best used to understand and modify environmental causes of disease in regard to the susceptibility of an individual or family. This article discusses the role of GPs in identifying those at high risk of disease by history, prenatal diagnostic techniques and appropriate genetic testing and providing practical, cost effective strategies for individuals and the community to minimise risk of illness.