Purpose

Secondary findings (SFs) are present in 1–4% of individuals undergoing genome/exome sequencing. A review of how SFs are disclosed and what outcomes result from their receipt is urgent and timely.

Methods

We conducted a systematic literature review of SF disclosure practices and outcomes after receipt including cascade testing, family and provider communication, and health-care actions. Of the 1,184 nonduplicate records screened we summarize findings from 27 included research articles describing SF disclosure practices, outcomes after receipt, or both.

Results

The included articles reported 709 unique SF index recipients/families. Referrals and/or recommendations were provided 647 SF recipients and outcome data were available for 236. At least one recommended evaluation was reported for 146 SF recipients; 16 reports of treatment or prophylactic surgery were identified. We found substantial variations in how the constructs of interest were defined and described.

Conclusion

Variation in how SF disclosure and outcomes were described limited our ability to compare findings. We conclude the literature provided limited insight into how the American College of Medical Genetics and Genomics (ACMG) guidelines have been translated into precision health outcomes for SF recipients. Robust studies of SF recipients are needed and should be prioritized for future research.

中文翻译：

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对医学上可行的基因组次要发现的披露实践和报告结果的系统文献回顾

目的

次要发现 (SFs) 存在于 1-4% 的接受基因组/外显子组测序的个体中。对如何披露 SF 以及收到它们会产生什么结果的审查是紧迫而及时的。

方法

我们对 SF 披露实践和收到后的结果进行了系统的文献回顾，包括级联测试、家庭和提供者沟通以及医疗保健行动。在筛选的 1,184 条非重复记录中，我们总结了 27 篇研究文章的发现，这些文章描述了 SF 披露做法、收到后的结果或两者兼而有之。

结果

纳入的文章报告了 709 个独特的 SF 索引接受者/家庭。为 647 名 SF 接受者提供了转诊和/或建议，并获得了 236 名的结果数据。至少报告了 146 名 SF 接受者的一项推荐评估；确定了 16 份关于治疗或预防性手术的报告。我们发现在如何定义和描述感兴趣的结构方面存在很大差异。

结论

SF 披露和结果描述方式的差异限制了我们比较结果的能力。我们得出结论，文献对美国医学遗传学和基因组学学院 (ACMG) 指南如何转化为 SF 接受者的精确健康结果提供了有限的见解。需要对 SF 接受者进行强有力的研究，并应优先考虑未来的研究。