Opportunistische farmacogenetische screening

Pharmacogenetics investigates gene variants that can predict drug response. When an exome is sequenced for a clinical indication, it is technically possible to analyze and report pharmacogenetic variants as an additional result. Offering an analysis that is broader than relevant for the clinical indication is screening. Making use of the opportunity that raw DNA data are already available for such a screening is opportunistic screening. We discuss arguments for and against opportunistic screening for pharmacogenetic variants based on a workshop with experts. Considering everything, opportunistic screening is not discarded, because it can support useful application pharmacogenetics in Dutch healthcare. It seems necessary to offer opportunistic screening in a research setting. If opportunistic pharmacogenetic screening shows that pre-emptive testing has sufficient proven medical and financial benefit, it should eventually be offered to everyone.

Conflict of interest and financial support: the study was financially supported by ZonMw (project grant 80-84600-98-3002). ICMJE forms provided by the authors are available online along with the full text of this article.