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Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group

机译：在次要调查结果的背景下基于透学评估的临床可行性：来自Clingen的可诉性工作组的更新

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Abstract The use of genome‐scale sequencing allows for identification of genetic findings beyond the original indication for testing (secondary findings). The ClinGen Actionability Working Group's (AWG) protocol for evidence synthesis and semi‐quantitative metric scoring evaluates four domains of clinical actionability for potential secondary findings: severity and likelihood of the outcome, and effectiveness and nature of the intervention. As of February 2018, the AWG has scored 127 genes associated with 78 disorders (up‐to‐date topics/scores are available at www.clinicalgenome.org ). Scores across these disorders were assessed to compare genes/disorders recommended for return as secondary findings by the American College of Medical Genetics and Genomics (ACMG) with those not currently recommended. Disorders recommended by the ACMG scored higher on outcome‐related domains (severity and likelihood), but not on intervention‐related domains (effectiveness and nature of the intervention). Current practices indicate that return of secondary findings will expand beyond those currently recommended by the ACMG. The ClinGen AWG evidence reports and summary scores are not intended as classifications of actionability, rather they provide a resource to aid decision makers as they determine best practices regarding secondary findings. The ClinGen AWG is working with the ACMG Secondary Findings Committee to update future iterations of their secondary findings list.
机译：摘要使用基因组测序允许识别超出原始指示的遗传发现（二次结果）。用于证据合成的Clingen Actionbity工作组（AWG）议定书和半定量度量评分评估潜在的中学结果的四个临床可行性域：结果的严重程度和可能性以及干预的有效性和性质。截至2018年2月，AWG已进入127个与78个障碍相关的基因（在www.clinicalgenome.org上提供最新主题/分数）。评估这些疾病的评分被评估，以比较美国医疗遗传学和基因组学（ACMG）的二次调查结果，并与目前推荐的那些返回的基因/障碍。 ACMG推荐的障碍在结果相关域名（严重程度和可能性）上得分较高，但不是在干预相关领域（干预的有效性和性质）。目前的实践表明，二次调查结果的返回将扩大到目前由ACMG推荐的结果。 Clingen AWG证据报告和摘要分数并非旨在作为可行性的分类，而是他们为援助决策者提供资源，因为它们决定了关于二次调查结果的最佳实践。 Clingen AWG正在与ACMG二级调查结果委员会合作，更新他们的中学结果清单的未来迭代。

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