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12 June 2002In the Netherlands, active family screening ("cascade screening") of the relatives of people diagnosed with familial hypercholesterolaemia has been in progress for several years. In a brief report in the BMJ, van Maarle et al report on a study to investigate the treatment and health outcomes for family members who tested positive for FH mutations in this programme [van Maarle, MC et al (2002) BMJ 324, 1367-1368]. The programme involved offering DNA testing to the first and second degree relatives of people who had clinically diagnosed FH and for whom a disease-causing mutation had been identified. The 215 relatives who tested positive were questioned about their treatment (e.g. statin use), their cholesterol level, their body mass index and their smoking status at the time of testing and after 7 and 18 months' follow-up. Among the 177 responders, treatment and clinical characteristics improved during follow-up but treatment was still considered sub-optimal after follow-up in 20% of cases, and clinical outcomes were unsatisfactory in 45% of cases. It is possible that these figures might have been even higher had it been possible to include the 23% of people who were lost to follow-up.
Comment: The rationale for genetic screening for conditions such as FH is that it will motivate people to take preventive action, but optimal results may only be achieved if robust follow-up regimes are implemented to accompany any screening programmes. The Dutch experience suggests that by no means everyone identified in an FH screening programme will achieve a health benefit. This may be an additional factor to be considered in assessing the merits of FH screening programmes such as thosed discussed in a recent Health Technology Assessment programme review [see also Marks, D. et al (2002) BMJ 324, 1303-1308].