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BMJ 2007;335:1007-1008 (17 November), doi:10.1136/bmj.39395.370278.80
| The first 150 words of the full text of this article appear below. |
Hadfield and Humphries favour cascade testing for familial hypercholesterolaemia (identifying relatives of affected individuals)1 over the child-parent screening approach2 but accept that cascade testing may only identify 50% of affected cases in the population. Cascade testing may have been "tried and tested" and found to be useful in identifying cases of familial hypercholesterolaemia within families, but it is not tried and tested as a general screening policy.3 Identifying all, or most, families first is a prerequisite for cascade testing, and this has not been achieved in any such programme.4
Expert groups have not recommended a general screening approach because cholesterol measurement is a poor screening test at birth and in adults. Our screening meta-analysis showed that between 1 and 9 years it is a good screening test—detecting about nine out of 10 affected individuals with a low false positive rate (about one in 1000). This finding provides the basis for
David S Wald, senior lecturer, Jonathan P Bestwick, statistician, Nicholas J Wald, professor
Wolfson Institute of Preventive Medicine, Barts and the London School of Medicine and Dentistry, London EC1M 6BQ
d.s.wald@qmul.ac.uk