在遗传医学和研究中，外显子组测序（ES）和基因组测序（GS）导致了与主要测试目的无关的基因组次要发现（SFs）。目前对于接受此类测试的个体返回SF结果的协议缺乏一致性。本研究的目的是通过国家生物大数据计划的罕见病研究和韩国基因组与流行病学研究（KoGES）中获得的GS数据来调查可行的次要发现的频率。在罕见病研究和KoGES中筛选了由美国医学遗传学与基因组学学院（ACMG）推荐的78个次要发现基因的致病（P）或可能致病（LP）变异。根据ACMG的解读确定了SF基因变异的致病性。在7472名研究参与者中，280名个体中鉴定出由41个ACMG SF基因的298个P / LP变异构成的SF率为3.75％。与心血管、癌症和其他表型相关的基因频率分别为2.17％、1.22％和0.58％。最常见的SF基因是TTN，其次是BRCA2。这里展示的韩国人群中罕见病患者和普通人群参与者的可行SF的频率将有助于报告基因组医学中的可行SF结果。（翻译为学术语言，保持原文结构，并遵循简体中文规范）© 2023. 作者。

Exome and genome sequencing (ES/GS) in genetic medicine and research leads to discovering genomic secondary findings (SFs) unrelated to the purpose of the primary test. There is a lack of agreement to return the SF results for individuals undergoing the test. The aim of this study is to investigate the frequency of actionable secondary findings using GS data obtained from the rare disease study and the Korean Genome and Epidemiology Study (KoGES) in the National Project of Bio Big Data pilot study. Pathogenic (P) or likely pathogenic (LP) variants of 78 SF genes recommended by the American College of Medical Genetics and Genomics (ACMG) were screened in the rare disease study and KoGES. The pathogenicity of SF gene variants was determined according to the ACMG interpretation. The overall SF rate was 3.75% for 280 individuals with 298 P/LP variants of 41 ACMG SF genes which were identified among 7472 study participants. The frequencies of genes associated with cardiovascular, cancer, and miscellaneous phenotypes were 2.17%, 1.22%, and 0.58%, respectively. The most frequent SF gene was TTN followed by BRCA2. The frequency of actionable SFs among participants with rare disease and general population participants in the Korean population presented here will assist in reporting results of medically actionable SFs in genomic medicine.© 2023. The Author(s).