Division of Translational Pathology, Department of Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Am J Med Genet A. 2022 Jan;188(1):83-88. doi: 10.1002/ajmg.a.62491. Epub 2021 Sep 13.
Secondary findings (SF) are defined as genetic conditions discovered unintentionally during an evaluation of raw data for another disease. We aimed to identify the rate of secondary genetic findings in the Saudi population in the 59 genes of the American College of Medical Genetics and Genomics (ACMG) list. In our study, the raw data of 1254 individuals, generated from exome sequencing for clinical purposes, were studied. Variants detected in the 59 genes on the ACMG list of secondary findings were investigated. Pathogenicity classifications were assigned to those variants based on the ACMG scoring system. We identified 2409 variants in the 59 gene list, 45 variants were classified as pathogenic/likely pathogenic variants according to the ACMG classification. The LDLR gene had the greatest number of pathogenic/likely pathogenic variants 12%. Cardiovascular genetic diseases had the highest frequency of disorders detected as secondary findings. In this study, the overall rate of positive cases identified with secondary findings in the Saudi population was 8%. The different in our current study and the previous studies in Saudi Arabia can be explained by the differences between the sequencing method, the criteria used for variant classification, the availability of newer evidence at the time of the publication, and the fact that we identified Saudi novel variants never reported in other populations.
次要发现 (SF) 是指在对另一种疾病的原始数据进行评估时意外发现的遗传状况。我们旨在确定在沙特人群中，59 个美国医学遗传学与基因组学学会 (ACMG) 列表基因中的次要遗传发现的发生率。在我们的研究中，研究了 1254 名个体的外显子组测序的原始数据，这些个体是出于临床目的而生成的。研究了在 ACMG 次要发现基因列表中检测到的 59 个基因中的变体。根据 ACMG 评分系统对这些变体进行了致病性分类。我们在 59 个基因列表中发现了 2409 个变体，根据 ACMG 分类，有 45 个变体被归类为致病性/可能致病性变体。LDLR 基因具有最多的致病性/可能致病性变体 12%。心血管遗传疾病作为次要发现检测到的疾病的频率最高。在这项研究中，沙特人群中确定具有次要发现的阳性病例的总体发生率为 8%。我们目前的研究与沙特阿拉伯以前的研究之间的差异可以通过测序方法、变体分类标准、发布时新证据的可用性以及我们确定的沙特阿拉伯新变体在其他人群中从未报道过的事实来解释。
