Article
Is It Our Duty To Hunt for Pathogenic Mutations?
Trends in molecular medicine - 1 Jan 2018
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
Abstract excerpt
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.
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