我们有责任寻找致病突变吗？

Is It Our Duty To Hunt for Pathogenic Mutations?

机构信息

Department of Medical Humanities, Julius Center, University Medical Center, Utrecht, The Netherlands.

Department of Medical Oncology, University Medical Center, Utrecht, The Netherlands.

出版信息

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

DOI:10.1016/j.molmed.2017.11.008

PMID:29246758

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.

摘要

专业人员是否应该系统地筛查全基因组测序（WGS）数据，以检查是否存在危及生命的突变？或者，基因组分析是否应该专注于检测的主要原因——即旨在实现精准医学？我们对这些论点进行了伦理审查，并比较了搜索突变与偶然发现的突变的披露行为。