Is It Our Duty To Hunt for Pathogenic Mutations?

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

doi:10.1016/j.molmed.2017.11.008

Is It Our Duty To Hunt for Pathogenic Mutations?

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

Authors

Roel H P Wouters¹, Rhodé M Bijlsma², Geert W J Frederix³, Margreet G E M Ausems⁴, Johannes J M van Delden⁵, Emile E Voest⁶, Annelien L Bredenoord⁵

Affiliations

¹ Department of Medical Humanities, Julius Center, University Medical Center, Utrecht, The Netherlands. Electronic address: r.h.p.wouters-2@umcutrecht.nl.
² Department of Medical Oncology, University Medical Center, Utrecht, The Netherlands.
³ Department of Health Technology Assessment, Julius Center, University Medical Center, Utrecht, The Netherlands.
⁴ Department of Genetics, University Medical Center, Utrecht, The Netherlands.
⁵ Department of Medical Humanities, Julius Center, University Medical Center, Utrecht, The Netherlands.
⁶ Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam, The Netherlands.

PMID: 29246758
DOI: 10.1016/j.molmed.2017.11.008

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Genetic Predisposition to Disease*
Genetic Testing / methods
Genome, Human*
Genomics / methods
Humans
Mutation*
Precision Medicine
Whole Genome Sequencing / methods