ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
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DOI：
10.1038/gim.2013.73
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发表时间：
2013-07
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在临床外显子组和基因组测序中，有可能识别和报告与测序适应症无关但对患者护理具有医学价值的偶然或次要发现。美国医学遗传学和基因组学学院（ACMG）最近发表了一份关于临床测序的政策声明，其中强调了在预测试患者讨论、临床测试和结果报告中披露此类结果的可能性的重要性。ACMG任命了一个临床外显子组和基因组测序中偶然发现的工作组，以便在患者接受外显子组或基因组测序时对偶然发现进行负责任的管理。该工作组进行了长达一年的协商一致过程，包括外部专家的审查，并提出了已获得ACMG董事会批准的建议。本报告介绍了具体和详细的建议以及这些建议的背景和理由。我们建议进行临床测序的实验室寻找并报告此处列出的基因中指定类别或类型的突变。应对所有临床生殖系（构成）外显子组和基因组测序进行该评价和报告，包括所有受试者的肿瘤-正常消减分析的“正常”，无论年龄如何，但不包括胎儿样本。我们认识到，没有足够的临床效用数据来完全支持这些建议，我们鼓励创建一个持续的过程，随着进一步数据的收集，至少每年更新这些建议。
In clinical exome and genome sequencing, there is potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statement on clinical sequencing, which emphasized the importance of disclosing the possibility of such results in pretest patient discussions, clinical testing, and reporting of results. The ACMG appointed a Working Group on Incidental Findings in Clinical Exome and Genome Sequencing to make recommendations about responsible management of incidental findings when patients undergo exome or genome sequencing. This Working Group conducted a year-long consensus process, including review by outside experts, and produced recommendations that have been approved by the ACMG Board. Specific and detailed recommendations, and the background and rationale for these recommendations, are described herein. We recommend that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here. This evaluation and reporting should be performed for all clinical germline (constitutional) exome and genome sequencing, including the ‘normal’ of tumor-normal subtractive analyses in all subjects, irrespective of age, but excluding fetal samples. We recognize that there are insufficient data on clinical utility to fully support these recommendations and we encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.
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DOI：
10.1038/gim.2011.68
发表时间：
2012-04
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
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