Report of a working party of the standing medical advisory committee on sickle cell, thalassaemia and other haemoglobinopathies.

  • Great Britain. Standing Medical Advisory Committee.
Date:
1993
Catalogue details

Licence: Open Government Licence

Credit: Report of a working party of the standing medical advisory committee on sickle cell, thalassaemia and other haemoglobinopathies. Source: Wellcome Collection.

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    ETHICS Ethical principles need to be observed. The individual must be allowed to choose whether or not to be screened. Choice must be informed by knowledge of the significance of screening for health benefit, including reproductive outcome, and also of any possible disadvantages of screening. Confidentiality must always be preserved. These considerations mean that education programmes directed at the population should be introduced before screening is begun. Pilot studies are needed to establish community attitudes and responses, and to determine the means of organisation. Services available need to be monitored. It would be useful to have national guidance on policy and standards for screening (Ref 16). PSYCHOLOGICAL ASPECTS OF SCREENING There has been relatively little recent work on psychological aspects of screening for SCD and thalassaemia in the UK, particularly when compared with the amount of research into antenatal screening for Down's syndrome and spina bifida. However some of the results from these other screening programmes are useful in planning screening for SCD and thalassaemia. The main themes that emerge from the studies to date are given below. POPULATIONS AT RISK GIVEN INACCURATE/INAPPROPRIATE INFORMATION As many as one third of women offered maternal serum alpha-fetoprotein screening for open- neural tube defects and Down’s syndrome do not know whether they have undergone the test (Ref 17). Part of the reason for this limited understanding is the minimal and inaccurate information sometimes provided by health professionals (Refs 18, 19). PRESSURE TO UNDERGO TESTS Despite the recommendations of the 1989 Royal College of Physician’s report on antenatal diagnosis and genetic screening (Ref 20) that decisions to undergo tests should be made by individuals on the basis of full information, some women report feeling under pressure to undergo tests (Ref 17). This feeling is substantiated by studies using tape-recordings of consultations in which routine antenatal tests are presented by obstetricians (Ref 78). EFFECT OF TESTS ON INDIVIDUALS Studies in screening for risk of cardiovascular disease suggest that the impact of testing is influenced by how the test is presented, and in particular about the information provided about the meaning of a positive result. Studies reporting the impact of carrier or antenatal testing need to be interpreted within the context of how the screening programme was organised. Carrier testing for recessively inherited conditions such as SCD is associated with raised anxiety, and concerns about future health which for some are evident many years after carrier detection (Ref 21). Recent studies of carrier detection for cystic fibrosis during pregnancy suggests that these effects are short-lived if only one of the parents is found to be a carrier. Studies of parents who have an antenatal diagnosis and choose to have a termination when the child is affected show reactions of grief, mixed with relief. We know little about the psychological effects on carriers who have children, having chosen not to undergo antenatal diagnosis; or for those who are diagnosed antenatally, but opt not to have a termination. There is a clear need for research.