Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
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DOI：
10.1038/gim.2016.190
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发表时间：
2017-02-01
影响因子：
8.8
通讯作者：
Miller, David T.
中科院分区：
文献类型：
--
作者：
Kalia, Sarah S.;Adelman, Kathy;Miller, David T.
为了促进临床基因组测序可操作信息的标准化报告，2013年，美国遗传学和基因组学学院（ACMG）发布了作为偶然或次要发现报告的基因的最小列表。Medi.cal其目标是通过旨在预防或显著降低发病率和死亡率的既定干预措施，确定和管理选定的高度渗透性遗传疾病的风险。ACMG随后成立了次要调查结果维护工作组，以制定一个随着时间的推移管理和更新清单的程序。我们在此介绍接受和评估次级调查结果清单更新提名的新流程。我们还报告了在该过程实施后115个月内收到的六项提名的结果。在坚持最初政策声明的核心原则的同时应用新的过程导致增加了四个基因，删除了一个基因;一个基因不符合纳入标准。更新后的次要发现最低清单包括59个建议在临床基因组测序中返回的医学可操作基因。我们讨论了未来的重点领域，鼓励医学界继续投入，并呼吁研究回归基因组二次发现的影响。
To promote standardized reporting of actionable information from clinical genomic sequencing, in 2013, the American College of Medi.cal Genetics and Genomics (ACMG) published a minimum list of genes to be reported as incidental or secondary findings. The goal was to identify and manage risks forselected highly penetrant genetic disorders through established interventions aimed at preventing or significantly reducing morbidity and mortality. The ACMG subsequently established the Secondary Findings Maintenance Working Group to develop a process for curating and updating the list over time. We describe here the new process for accepting and evaluating nominations for updates to the secondary findings list. We also report outcomes from six nominations received in the initia115 months after the process was implemented. Applying the new process while upholding the core principles of the original policy statement resulted in the addition of four genes and removal of one gene; one gene did not meet criteria for inclusion. The updated secondary findings minimum list includes 59 medically actionable genes recommended for return in clinical genomic sequencing. We discuss future areas of focus, encourage continued input from the medical community, and call for research on the impact of returning genomic secondary findings.