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. 2018 Jan;24(1):3-6.
doi: 10.1016/j.molmed.2017.11.008. Epub 2017 Dec 12.

Is It Our Duty To Hunt for Pathogenic Mutations?

Roel H P Wouters  1 , Rhodé M Bijlsma  2 , Geert W J Frederix  3 , Margreet G E M Ausems  4 , Johannes J M van Delden  5 , Emile E Voest  6 , Annelien L Bredenoord  5
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Is It Our Duty To Hunt for Pathogenic Mutations?

Roel H P Wouters et al. Trends Mol Med. 2018 Jan.

Abstract

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.

Keywords: duty to hunt; genomics; incidental finding; opportunistic screening; routine screening; unsolicited finding.

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