Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing
Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing
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DOI：
10.1002/ajmg.a.35794
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发表时间：
2013-03-01
影响因子：
2
通讯作者：
Friedman, Jan
中科院分区：
文献类型：
--
作者：
Lohn, Zoe;Adam, Shelin;Friedman, Jan
使用大量平行测序技术的整个外显子组或整个基因组分析无疑将解决诊断困境。但是，还将发现可能具有医疗和社会影响的偶然发现（如果）。在文献中达成共识，如果要求如果要求将其返还给患者，则可以在分析上有效且在医学上有效，但有关其他if的返回的辩论。目前尚无针对在临床背景下管理IF的准则。因此，我们向加拿大的496名遗传学家和遗传咨询师分发了一份在线问卷，以探讨这个尚未解决的问题，并参与了210名专业人员（回应率= 42％）。指出，如果患者依赖于发现的性质，他们将返回的受访者的比例，范围从95％的信息到严重且可治疗状况，到仅具有社会影响的信息的12％（例如，非亲戚） 。如果遗传携带者状态，特别是对于儿科患者，则缺乏确定披露的确定性。如果披露包括特定的因素，例如治疗可用性，测试准确性和表明致病性的证据。这是第一个记录加拿大遗传学家和遗传咨询师的观点的研究，以披露IF的披露，并代表了朝着基于证据的全基因组测序研究指南迈出的一步。 （c）2013 Wiley期刊公司
Whole exome or whole genome analysis using massively parallel sequencing technologies will undoubtedly solve diagnostic dilemmas; however, incidental findings (IF) that may have medical and social implications will also be discovered. While there is consensus in the literature that analytically valid and medically actionable IF should be returned to patients if requested, there is debate regarding the return of other IF. There are currently no guidelines established for managing IF in the clinical context. We therefore distributed an online questionnaire to 496 geneticists and genetic counselors in Canada to explore this unresolved issue, and 210 professionals participated (response rate=42%). The proportion of respondents who indicated that they would return IF to patients depended on the nature of the finding, ranging from 95% for information pertaining to a serious and treatable condition to 12% for information with only social implications (e.g., non-paternity). There was a lack of consensus around the disclosure of certain IF such as genetic carrier status, especially for pediatric patients. The most important considerations identified as impacting IF disclosure included condition-specific factors such as treatment availability, test accuracy, and evidence indicating pathogenicity. This is the first study to document the views of geneticists and genetic counselors in Canada towards the disclosure of IF, and represents a step towards evidence-based guidelines for clinical genome-wide sequencing investigations. (c) 2013 Wiley Periodicals, Inc.