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Screening for carriers of cystic fibrosis

BMJ 1994; 308 doi: (Published 04 June 1994) Cite this as: BMJ 1994;308:1451
  1. S Raeburn

    At the core of genetic management is the principle that once people have been informed about all the options they can then choose. Clinical geneticists facilitate decision making by confirming the diagnosis, providing information non-directively, and arranging counselling that takes account of emotional aspects. Decision making is not always logical, and geneticists (and other doctors) should know this. People's feelings are as important as the facts; decisions should emerge from both.

    Two papers in this week's journal concern screening for carriers of cystic fibrosis, although both use quite different models. Can such studies provide an approach to screening that is applicable to other autosomal recessive conditions? If so, and if health authorities were to introduce screening for carriers of the commoner autosomal recessive diseases, which should be chosen? The feelings of health professionals and of those who allocate resources may contribute (alongside the facts) to such strategic decisions.

    Livingstone and colleagues from Edinburgh describe “couple screening” in pregnancy to identify carriers of cystic fibrosis (p 1459).1Following suggestions by Wald et al2,3 they reported back to those at high risk of having a child …

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