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

Onderzoeksoutput: Bijdrage aan tijdschrift › Kort overzicht › peer review

7 Citaten (Scopus)

Samenvatting

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.

Originele taal-2	Engels
Pagina's (van-tot)	3-6
Aantal pagina's	4
Tijdschrift	Trends in Molecular Medicine
Volume	24
Nummer van het tijdschrift	1
DOI's	https://doi.org/10.1016/j.molmed.2017.11.008
Status	Gepubliceerd - jan. 2018
Extern gepubliceerd	Ja

Toegang tot document

10.1016/j.molmed.2017.11.008

Citeer dit

@article{903bc0b959264405a8bac58a9266bb96,

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,

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

language = "English",

volume = "24",

pages = "3--6",

journal = "Trends in Molecular Medicine",

issn = "1471-4914",