The development of a comprehensive genetics programme for the early identification of disabled children with hereditary disease

Abstract

In this communication, I shall review the most salient aspects of the progress achieved in recent years within the area of molecular biology and genetics and the dramatic changes occurring in the practice of genetics. The progress made in fundamental biomedical sciences has improved understanding and provided new resources for antenatal and neonatal testing and diagnosis. After a brief introduction on the scope of molecular genetics, I shall describe the impact of genetics on contemporary paediatrics, and on our understanding of hereditary disorders relating the information to improved molecular biology procedures for diagnosis and carner detection. Finally, I shall review the contribution of the new molecular technology to provide new services that benefit patients and their families and how these could be integrated with broader social and ethical issues in the modem practice of genetics.