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?

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

^*Corresponding author for this work

Research output: Contribution to journal › Short survey › peer-review

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.

Original language	English
Pages (from-to)	3-6
Number of pages	4
Journal	Trends in molecular medicine
Volume	24
Issue number	1
DOIs	https://doi.org/10.1016/j.molmed.2017.11.008
Publication status	Published - 1 Jan 2018

Keywords

duty to hunt
genomics
incidental finding
opportunistic screening
routine screening
unsolicited finding

Access to Document

10.1016/j.molmed.2017.11.008

1-s2.0-S1471491417302125-mainFinal published version, 462 KBLicence: Taverne

Cite this

@article{f86ce5bc1ff8419e965f0bfe2abc6bbf,

title = "Is It Our Duty To Hunt for Pathogenic Mutations?",

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",

author = "Wouters, \{Roel H.P.\} and Bijlsma, \{Rhod{\'e} M.\} and Frederix, \{Geert W.J.\} and Ausems, \{Margreet G.E.M.\} and \{van Delden\}, \{Johannes J.M.\} and Voest, \{Emile E.\} and Bredenoord, \{Annelien L.\}",

note = "Publisher Copyright: {\textcopyright} 2017 Elsevier Ltd",

year = "2018",

month = jan,

day = "1",

doi = "10.1016/j.molmed.2017.11.008",

language = "English",

volume = "24",

pages = "3--6",

journal = "Trends in molecular medicine",

issn = "1471-4914",