[Advances in diagnostic and therapeutic genetics]

Over recent years there have been remarkable advances in molecular genetics. As these techniques have been refined and simplified it has been possible to apply them to study human genes, both in health and disease. It is now possible to start to understand many diseases in terms of their molecular pathology, a level of diagnostic precision and, hopefully, how better to prevent and manage them. To give patients and their families the full benefit of expanding genetic knowledge, physicians need to understand the underlying concepts of human genetics and the role of genes in disease.