The new genetics: which genie out of which bottle?

In his millennial musings historian Roy Porter unfashionably doubts whether the human genome project will dramatically transform medical practice or spectacularly enhance human health (p 1092). But he gets some support from clinician and scientist David Weatherall, who argues that those expecting rapid progress to follow the sequencing of the human genome may be disappointed (p 1117). He looks at the commonest diseases caused by a single gene, in particular β thalassaemia, and accounts for the bewildering phenotypic variability of the disease by “layer upon layer of genetic complexity, with a strong environmental component.” How much harder therefore will it be to unravel genetically the many common diseases of Western society that seem to have a genetic component, but are not inherited in a Mendelian fashion? Jane Kaye and Paul Martin worry that in an era when people's confidence in the governance of clinical practice is at an all time low, controversial research might be an early casualty (p 1146). They discuss the UK Population Biomedical Collection, which will contain DNA samples from up to half a million people and will link to medical records and family histories through general practices. The authors look at the lessons to be learnt from the Icelandic Health Sector Database and believe that the outstanding issues deserve widespread public debate. They argue for a clear legal framework and strong independent oversight—if the public is to be convinced that sensitive genetic information will not be misused.