Who's for continuous ambulatory peritoneal dialysis?

نویسنده

  • R Gokal
چکیده

a carrier there can be no stigma. Most couples would prefer to know before conception if both partners carry the same gene defect. Few have difficulty accommodating the need to care for the sick who exist while taking steps to avoid recurrence. The minority who chose to continue to term would need support. Nevertheless, experience shows that, in Britain at least, most couples would opt for a healthy child. In short, the capacity to screen for carriers of cystic fibrosis is set eventually to carry genetics if not into every living room, at least into every health centre. For it is there that most people would prefer to have such investigations.4 Is it now time to start the general introduction of genetic screening? The two studies reported in this issue explore the options and illustrate many of the problems. The paper by Bekker and colleagues introduced a member of the research team to a London practice (p 1584).5 A lack of interest in carrier testing emerges, which is perhaps unsurprising: an inner city practice will always be a tough test of any preventive programme. The authors found that the only effective screening option in terms of uptake was to collect samples opportunistically, a similar finding to that reported by Watson et al.6 Although the authors feared that this might reflect inappropriate "selling" of the test, it seems at least as likely that people will not inconvenience themselves for a test that they do not think they need. People without a family history "feel lucky." Harris and colleagues got general practitioners in several practices to target the first antenatal visit (p 1580).7 Enthusiasm among general practitioners in Manchester may have reflected the persuasive powers of the study group, but a more likely explanation is that, given adequate support, general practitioners have a natural affinity for the study of genetic disorders in families and adapt readily, using the cystic fibrosis carrier test as a means of introduction. Different approaches to carrier testing are likely to be complementary; our own pilot study is looking at using a preconception clinic, a "well couple" clinic. Most regional genetic centres now offer cascade carrier detection 8 by approaching the relatives of known carriers. This has the advantage of precision and limited cost but depends on the birth of an affected child. Testing in antenatal clinics is feasible 9 but introduces additional stress on the family and …

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عنوان ژورنال:
  • BMJ

دوره 306 6892  شماره 

صفحات  -

تاریخ انتشار 1993