Center for Precision Health Research, National Human Genome Research Institute, Bethesda, MD, USA.
Translational Health Sciences, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
Genet Med. 2021 Dec;23(12):2260-2269. doi: 10.1038/s41436-021-01295-7. Epub 2021 Aug 26.
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.
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.
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.
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.
在接受基因组/外显子测序的个体中，有 1-4%存在次要发现（SFs）。对 SFs 的披露方式以及它们的接收结果进行审查是紧迫和及时的。
我们对 SF 披露实践和接收后的结果进行了系统的文献综述，包括级联测试、家庭和提供者沟通以及医疗保健行动。在筛选出的 1184 份非重复记录中，我们总结了 27 篇纳入研究文章的发现，这些文章描述了 SF 披露实践、接收后的结果或两者兼而有之。
纳入的文章报告了 709 名独特的 SF 索引接受者/家庭。向 647 名 SF 接受者提供了转介和/或建议，并且可获得 236 名 SF 接受者的结果数据。至少为 146 名 SF 接受者报告了一项推荐评估；确定了 16 例治疗或预防性手术的报告。我们发现，所关注的结构的定义和描述方式存在很大差异。
对 SF 披露和结果的描述方式的差异限制了我们比较结果的能力。我们的结论是，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 接受者的精准健康结果提供的见解有限。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。
