Short Survey

Is It Our Duty To Hunt for Pathogenic Mutations?

Wouters, Roel H.P., Bijlsma, Rhodé M., Frederix, Geert W.J., Ausems, Margreet G.E.M., van Delden, Johannes J.M., Voest, Emile E. & Bredenoord, Annelien L.

Published: 01/01/2018

Should professionals systematically screen whole-genome sequencing (WGS) data to check for life-threatening mutations? Alternatively, should genome analysis focus on the primary reason for testing – that is, aiming to achieve precision medicine? We present an ethical review of the arguments and compare the act of searching for mutations with disclosing mutations that are discovered incidentally.

Full Access Link: Trends in Molecular Medicine