当前位置: X-MOL 学术Trends Mol. Med. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Is It Our Duty To Hunt for Pathogenic Mutations?
Trends in Molecular Medicine ( IF 12.8 ) Pub Date : 2017-12-12 , DOI: 10.1016/j.molmed.2017.11.008
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

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.



中文翻译:

寻找致病性突变是我们的责任吗?

专业人士是否应该系统地筛选全基因组测序(WGS)数据以检查威胁生命的突变?或者,基因组分析是否应将重点放在进行测试的主要原因上,即旨在实现精准医学?我们提出了对这些论点的伦理审查,并比较了寻找突变和发现偶然发现的突变的行为。

更新日期:2017-12-12
down
wechat
bug