Klinisch nut van de analyse van het hele genoom

Ten years ago the human genome sequence was published. Subsequently, large investments were made in genomics research, also in the Netherlands, which promised major changes in diagnostics, therapy and prevention. So far however, the consequences in health care are few. The results of genome-wide association studies are so far of hardly any clinical use. The cost of genome information is dropping quickly. Earlier this year, the Lancet published an analysis of the genome sequence of a single research worker (2010;375:1525-3). Mutations were found in genes associated with sudden cardiac death, risk factors for common disorders and pharmacogenetic variations. The paper is a milestone. Similar analyses will show many unknown variants. In clinical genetics, whole-genome techniques are increasingly used. Apart from clinically useful information, many unexpected findings are revealed. The question of who may store genome information needs to be answered. It is questionable whether true informed consent is possible; further discussion is needed.

Conflict of interest: M.C.C. en G.d.W. are principal investigators in the Centre for Society and Genomics (Nijmegen). M.C.C. is chairwoman of the working group ‘Maatschappelijke Aspecten van Genomics’ of the Centre for Medical Systems Biology (Leiden). Both centers are financed by the Netherlands’ Genomics Initiative. Financial support for this article: none declared.