Role of Genetic Diagnosis Registers in Ongoing Consultation with the Community

The objective of genetic screening is informed choice. The UK Confidential Enquiry into Genetic Counselling by Non-Geneticists (CEGEN) aims to assess the attainment of this objective at the community level. Antenatal screening for thalassaemias and sickle cell disorders has long been standard practice in the UK. National registers of patients and of prenatal diagnoses identify all known conceptions with a fetus with thalassaemia major, and their outcomes. CEGEN viewed the obstetric records of women with an affected pregnancy in 1990–1994: risk had been detected in only half the cases. Hence nationally only half the couples at risk for thalassaemia have access to an informed choice. Most uninformed couples were British Pakistanis: the records revealed that screening had a low priority because of an assumption that they would decline genetic abortion for religious reasons. CEGEN showed that in fact over 70% of British Pakistanis request prenatal diagnosis, providing it is offered in the first trimester. This work demonstrates the power of a confidential enquiry based on genetic diagnosis registers for both assessing the delivery of screening, and eliciting the preferences of the population. The results offer an appropriate guide to acceptable service development.