Lohn Z, Adam S, Birch P H, Friedman J M
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada,
J Genet Couns. 2014 Aug;23(4):463-73. doi: 10.1007/s10897-013-9604-4. Epub 2013 May 26.
There are several unresolved challenges associated with the clinical application of genome-wide sequencing technologies. One of the most discussed issues is incidental findings (IF), which are defined as discoveries made as a result of genetic testing that are unrelated to the indication for the test. The discussion surrounding IF began in the context of research, which we have used to frame consideration of IF in the clinical context. There is growing consensus that analytically valid and medically actionable IF should be offered to patients, but whether and to what extent clinicians should disclose other kinds of IF is debated. While others have systematically reviewed the literature concerning genetic IF, previous reviews focus on ethical and research-related issues and do not consider the implications for the genetic counseling profession specifically. This review discusses the practical considerations, ethical concerns and genetic counseling issues related to IF, with a particular focus on clinical genome-wide sequencing. To date, the bulk of the literature with respect to IF in the clinical context consists of commentaries, reviews and case reports. There is a need for more empirical studies to provide a foundation for institutional protocols and evidence-based clinical practice standards.
全基因组测序技术的临床应用存在若干尚未解决的挑战。讨论最多的问题之一是偶然发现（IF），即基因检测过程中发现的与检测指征无关的结果。围绕偶然发现的讨论始于研究背景，我们以此为框架来考量临床背景下的偶然发现。越来越多的人达成共识，认为应向患者提供分析有效且具有医学可操作性的偶然发现，但临床医生是否以及在何种程度上应披露其他类型的偶然发现仍存在争议。虽然其他人已系统地回顾了有关基因偶然发现的文献，但以往的综述侧重于伦理和研究相关问题，并未具体考虑对遗传咨询行业的影响。本综述讨论了与偶然发现相关的实际考量、伦理问题和遗传咨询问题，特别关注临床全基因组测序。迄今为止，临床背景下关于偶然发现的大部分文献包括评论、综述和病例报告。需要更多实证研究为机构规程和循证临床实践标准提供基础。
