Genetic screening and haemoglobinopathies: Ethics, politics and practice

Abstract

The increasing availability of information on the human genetic makeup presents both individuals and society with difficult decisions. This paper explores the ethical and practical issues raised by genetic screening for sickle cell and thalassaemia major, by examining the emerging tension between allowing people to make informed choices, on the basis of genetic information, and prevention of haemoglobinopathies. Within this broad context, the paper also explores the more practical issues of providing genetic screening for haemoglobinopathies, such as the meaning of counselling and screening for the general population; the psychological and social implications for people identified as carriers; and the organisation and delivery of services. It concludes that screening is not always informed by a commitment to informed decision making.