Direct marketing of cystic fibrosis carrier screening: commercial push or population need?

Editorial Direct marketing of cystic fibrosis carrier screening: commercial push or population need? In mid December 1994, the medical genetics community, along with others, was surprised and concerned by a press and television release announcing the direct marketing of cystic fibrosis carrier screening to the public.' The test offered, based on the detection of four common mutations and using DNA from a mouthwash sample sent by mail, also included an information sheet and the possibility of further advice to those concerned at no extra cost. So far, it is too early to know what response and uptake there may have been for the test, but there was certainly considerable coverage of the event in the press and other media. So why the surprise and why the concern among pro-fessionals? The topic of CF carrier screening has, after all, been under intensive study and debate for several years, with a number of pilot studies of different approaches published and in progress.`8 As the commonest recessively inherited disorder in northern Europe, with a carrier frequency of 1 in 20 to 25, it was always likely to attract more commercial interest than rarer conditions and, indeed, industry had already been prominent in developing mutation detection methods appropriate for mass screening. Was not the present development obvious and inevitable? Why were UK professionals surprised? First, it is probable that this would have been less had the announcement come from the USA, where entrepreneurial involvement in biotechnology and a "direct sell" approach in medicine generally has always been more common than in the UK and most other European countries, and where a systematic provision of primary care for the entire population is lacking. But a further reason lies in the prominence of UK genetic centres in evaluating CF carrier screening, with pilot projects having already critically assessed its possible benefits and problems in the context of primary care,23 pregnancy," and extended family or "cascade" screening.9 It is probably fair to state that, in the context of such extensive and thorough evaluation, those involved with CF carrier screening did not expect a development that would bypass not just themselves but all clinicians, introduced with no previous consultation. The final reason for surprise was that four months previously, another press release had indeed announced the development,'0 but had specifically stated it would be launched "for use at Medical Genetics Centres and in other clinical laboratories". The possibility …