偶然变异对于基因组学至关重要。
Incidental variants are critical for genomics.
机构信息
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
出版信息
Am J Hum Genet. 2013 May 2;92(5):648-51. doi: 10.1016/j.ajhg.2013.04.001.
Abstract
The topic of incidental variants detected through exome and genome sequencing is controversial, both in clinical practice and in research. The arguments for and against the deliberate analysis and return of incidental variants focus on issues of clinical validity, clinical utility, autonomy, clinical and research infrastructure and costs, and, in the research arena, therapeutic misconception. These topics are briefly reviewed and an argument is made that these variants are the future of genomic medicine. As a field, we should take full advantage of all opportunities to study these variants by searching them out, returning them to patients and research participants, and studying their utility for predictive medicine.
摘要
通过外显子组和基因组测序检测到的偶然变异体的话题在临床实践和研究中都是有争议的。赞成和反对故意分析和回报偶然变异体的论点集中在临床有效性、临床实用性、自主性、临床和研究基础设施和成本，以及在研究领域的治疗误解等问题上。本文简要回顾了这些主题，并提出这些变体是基因组医学的未来。作为一个领域，我们应该充分利用所有机会通过搜索、将其返还给患者和研究参与者，并研究其在预测医学中的效用来研究这些变体。
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本文引用的文献
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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.ACMG 临床外显子组和基因组测序中偶然发现报告的推荐标准。
Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.
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Disclosure of incidental findings from next-generation sequencing in pediatric genomic research.从下一代测序中披露儿科基因组研究中的偶然发现。
Pediatrics. 2013 Mar;131(3):564-71. doi: 10.1542/peds.2012-0084. Epub 2013 Feb 11.
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Do researchers have an obligation to actively look for genetic incidental findings?研究人员是否有义务积极寻找遗传偶然发现？
Am J Bioeth. 2013;13(2):32-42. doi: 10.1080/15265161.2012.754062.
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Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting.加拿大研究人员对在儿科研究环境中获得的偶然和靶向基因组发现返还给参与者的态度。
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