美国Helix J. T. Lu和Renown Health及沙漠研究所（DRI）J. J. Grzymski研究组发现，人口遗传筛选有效发现常染色体显性疾病携带者。2020年7月27日，《自然-医学》发表了这一成果。

在包涵26906名参与者的内华达健康项目（HNP）研究中，研究人员首先评估了群体基因筛查能否有效地鉴别出这些遗传疾病的携带者；其次，研究人员评估了遗传风险对这些参与者健康结果的影响。研究发现BRCA相关的遗传性乳腺癌和卵巢癌（HBOC）、林奇综合征（LS）和家族性高胆固醇血症（FH）的致病性和可能致病性（P / LP）遗传变异的综合携带率为1.33％。在这些携带者中，21.9％的参与者患有临床相关疾病，其中70％在65岁之前被诊断出患有相关疾病。

此外，90％的危险基因携带者以前未被发现，只有不到19.8％的患者在他们的医疗记录中记录了遗传病遗传风险（包括家族史）。在对所有携带者的直接随访调查中，只有25.2％的人报告了相关疾病的家族病史。研究人员根据HNP方面的经验表明对患者进行基因筛查可以确定高危携带者，而这是在常规治疗中则无法实现的。

据介绍，对被称为疾病控制和预防一级中心（CDCT1）的三种常染色体显性遗传疾病：HBOC、LS和FH的早期发现和预防对临床治疗具有潜在的意义，并对公共卫生具有积极影响。在典型医学实践中，对这些疾病的基因检测是基于个人或家族史、种族背景或其他人口统计学特征进行的。

附：英文原文

Title: Population genetic screening efficiently identifies carriers of autosomal dominant diseases

Author: J. J. Grzymski, G. Elhanan, J. A. Morales Rosado, E. Smith, K. A. Schlauch, R. Read, C. Rowan, N. Slotnick, S. Dabe, W. J. Metcalf, B. Lipp, H. Reed, L. Sharma, E. Levin, J. Kao, M. Rashkin, J. Bowes, K. Dunaway, A. Slonim, N. Washington, M. Ferber, A. Bolze, J. T. Lu

Issue&Volume: 2020-07-27

Abstract: Three inherited autosomal dominant conditions—BRCA-related hereditary breast and ovarian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH)—have been termed the Centers for Disease Control and Prevention Tier 1 (CDCT1) genetic conditions, for which early identification and intervention have a meaningful potential for clinical actionability and a positive impact on public health1. In typical medical practice, genetic testing for these conditions is based on personal or family history, ethnic background or other demographic characteristics2. In this study of a cohort of 26,906 participants in the Healthy Nevada Project (HNP), we first evaluated whether population screening could efficiently identify carriers of these genetic conditions and, second, we evaluated the impact of genetic risk on health outcomes for these participants. We found a 1.33% combined carrier rate for pathogenic and likely pathogenic (P/LP) genetic variants for HBOC, LS and FH. Of these carriers, 21.9% of participants had clinically relevant disease, among whom 70% had been diagnosed with relevant disease before age 65. Moreover, 90% of the risk carriers had not been previously identified, and less than 19.8% of these had documentation in their medical records of inherited genetic disease risk, including family history. In a direct follow-up survey with all carriers, only 25.2% of individuals reported a family history of relevant disease. Our experience with the HNP suggests that genetic screening in patients could identify at-risk carriers, who would not be otherwise identified in routine care.

DOI: 10.1038/s41591-020-0982-5

Source: https://www.nature.com/articles/s41591-020-0982-5