The history of community genetics: the contribution of the haemoglobin disorders

Abstract

The emerging possibilities of applying new diagnostic technologies for genetic diagnosis and screening point to the need for a discipline of community genetics. Genetic population screening for haemoglobin disorders (thalassaemias and sickle cell disorders) has been practised on a large scale for over 20 years, and basic concepts and methods of community genetics have been developed within this framework, under the auspices of the WHO. Genetic population screening is a public health activity. It involves many disciplines, and planning depends on reliable and regularly updated information. Basic methods for describing genetic epidemiology in terms of service needs, and for regular service audit have been developed, and IT-based approaches for making simple, accurate and diagnosis-specific information accessible to the public and health professionals are being explored.