Arcensus GmbH, Rostock, Germany
University of Child Health Sciences, the Children's Hospital, Lahore, Pakistan.
Life Sci Alliance. 2023 Jan 12;6(3). doi: 10.26508/lsa.202201673. Print 2023 Mar.
Studies on genomic secondary findings (SFs) are diverse in participants' characteristics, sequencing methods, and versions of the ACMG SF list. Based on whole genome sequencing and the version 3.1 of the ACMG SF list, we studied SFs in 863 individuals from five different regions in Pakistan. We identified 24 ACMG SFs in 23 (2.7%) of 863 individuals: 18 of 24 were related to cardiovascular disease and four to cancer syndromes. In addition to ACMG SFs, we identified 16 (1.9%) participants with pathogenic and likely pathogenic variants in genes that were not related to the participants' clinical conditions but with clear medical actionability (non-ACMG SFs): 4 of 16 were related to eye diseases, two to metabolic disorders, and two to urinary system disorders. By testing a large Pakistani cohort with whole genome sequencing, we concluded that in countries such as Pakistan, the ACMG SF list could be expanded, and our non-ACMG SF list is one example.
对基因组二级发现（SFs）的研究在参与者的特征、测序方法和 ACMG SF 清单的版本上各不相同。基于全基因组测序和 ACMG SF 清单的版本 3.1，我们研究了来自巴基斯坦五个不同地区的 863 个人的 SFs。我们在 863 个人中的 23 个人（2.7%）中发现了 24 个 ACMG SFs：24 个中有 18 个与心血管疾病有关，4 个与癌症综合征有关。除了 ACMG SFs，我们还在 16 个（1.9%）参与者中发现了与参与者临床状况无关但具有明确医疗可操作性的基因中的致病性和可能致病性变异（非 ACMG SFs）：16 个中有 4 个与眼部疾病有关，2 个与代谢紊乱有关，2 个与泌尿系统疾病有关。通过对一个有全基因组测序的大型巴基斯坦队列进行测试，我们得出结论，在像巴基斯坦这样的国家，ACMG SF 清单可以扩展，我们的非 ACMG SF 清单就是一个例子。
