Carrier testing in children for cystic fibrosisBMJ 1995; 310 doi: https://doi.org/10.1136/bmj.310.6978.530c (Published 25 February 1995) Cite this as: BMJ 1995;310:530
- Ian Balfour-Lynn,
- Su Madge,
- Robert Dinwiddie
- Clinical research fellow Clinical nurse specialist Consultant paediatrician Respiratory Unit, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH
EDITOR,—Your recent article debating screening for carriers of cystic fibrosis raises important issues.1 One aspect, however, that has received relatively little attention is whether it is justified to test for carrier status in siblings of patients with cystic fibrosis during childhood. A recent report from the Clinical Genetics Society (UK) was not in favour of testing children for recessive disorders where this is of purely reproductive significance to that child in the future.2
However, we found that 90% (103/114) of parents of patients with cystic fibrosis wanted to know the carrier status of their other children; furthermore, 91% (104/114) believed that they had a fundamental right to know.3 In contrast, we found that most clinical geneticists would try to dissuade the parents or postpone testing until the child was older; 41% (11/27) thought that the parents had no rights to all to know their children's carrier status. Out of 78 doctors working in child health for their views, we found that 76% (59/78) would want to know and 69% (54/78) thought that it was their right to know.
Clearly there is a divergence of opinion, and a consensus probably cannot be reached. As with many difficult ethical issues in clinical paediatrics, the problem of who should make these sorts of decisions remains. Should it be the experts (clinical geneticists), the clinicians who regularly see the families (paediatricians and general practitioners), or the families themselves once properly informed? While it may be prudent to wait until the siblings are old enough to express an opinion, problems may arise when parents of younger children are insistent as carrier testing is becoming more readily available. Commercial pressures will eventually make such testing available both in private laboratories and from local chemists, and the worry is that results will not be accompanied by adequate genetic counselling.