Is It Our Duty To Hunt for Pathogenic Mutations?
Publication date
2018-01-01
Authors
Wouters, Roel H P
Bijlsma, Rhodé M
Frederix, Geert
Ausems, M. G E M
van Delden, Johannes J M
Voest, Emile E
Bredenoord, Annelien L.
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Advisors
Supervisors
Document Type
Article
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License
taverne
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, Taverne, Molecular Medicine, Molecular Biology
Citation
Wouters, R H P, Bijlsma, R M, Frederix, G W J, Ausems, M G E M, van Delden, J J M, Voest, E E & Bredenoord, A L 2018, 'Is It Our Duty To Hunt for Pathogenic Mutations?', Trends in molecular medicine, vol. 24, no. 1, pp. 3-6. https://doi.org/10.1016/j.molmed.2017.11.008