全基因组测序技术在体检人群健康管理中的应用  

Whole-genome sequencing in health management of physical examination population

作　　者：高姚怡 张丽 魏志英 沈敏娜 张华阳 张春燕 潘柏申 王蓓丽 郭玮 GAO Yaoyi;ZHANG Li;WEI Zhiying;SHEN Minna;ZHANG Huayang;ZHANG Chunyan;PAN Baishen;WANG Beili;GUO Wei(Department of Clinical Laboratory,Zhongshan Hospital,Fudan University,Shanghai 200032,China;Department of Clinical Laboratory,Shanghai Geriatric Medical Center,Shanghai 201104,China)

机构地区：[1]复旦大学附属中山医院检验科,上海200032 [2]上海市老年医学中心检验科,上海201104

出　　处：《检验医学》2025年第2期148-153,共6页Laboratory Medicine

基　　金：国家自然科学基金项目(82172348)。

摘　　要：目的探讨全基因组测序(WGS)在体检人群中的获益情况。方法选取2023年3月—2024年7月于复旦大学附属中山医院行WGS的70名体检者。收集所有研究对象的一般资料,并对测序数据进行生物信息学分析,参考美国医学遗传学与基因组学学会(ACMG)相关指南对检出的变异进行致病性分析。结果70名体检者共检测出390个基因变异,其中致病变异69个(17.7%)、疑似致病变异76个(19.5%);有16例(22.9%)检出了19个可引起单基因遗传病的变异;有60例(85.7%)检测到至少一种与隐性遗传病或X连锁遗传病相关的致病或疑似致病变异,检出率居前5位的基因分别为GJB2(6.67%)、HFE(4.17%)、DUOX2(3.33%)、SLC26A4(3.33%)和SERPINB7(2.50%)。70名体检者中有5例(7.14%)、2例(2.86%)、1例(1.43%)、1例(1.43%)、1例(1.43%)、1例(1.43%)分别检出阿尔茨海默病、强制性脊柱炎、干燥综合征、胆结石病、前列腺癌和多发性骨髓瘤高遗传风险,有2例(2.86%)、1例(1.43%)分别检出银屑病、白内障低遗传风险。100%的体检受检者会对至少一种药物不响应或产生不良反应。结论体检者均能从WGS检测中不同程度获益。WGS在体检人群中的进一步推广或可助力全生命周期的疾病预防和健康管理。Objective To investigate the benefits of whole-genome sequencing(WGS)in physical examination population.Methods A total of 70 subjects who underwent WGS at Zhongshan Hospital of Fudan University from March 2023 to July 2024 for physical examination were enrolled.The general data were collected,and bioinformatics analysis was performed on the sequencing data.The pathogenicity of the detected mutations was analyzed using the sequence variation interpretation guidelines developed by American College of Medical Genetics and Genomics(ACMG).Results A total of 390 genetic variations were detected in 70 subjects undergoing physical examination,which included 69 pathogenic variations(17.7%)and 76 suspected pathogenic variations(19.5%).In 16 cases(22.9%),19 variations that can cause monogenic genetic diseases were detected.Totally,60 cases(85.7%)were detected with at least one pathogenic or suspected pathogenic variation associated with recessive genetic diseases or X-linked genetic diseases.The top 5 genes with high detection rates were GJB2(6.67%),HFE(4.17%),DUOX2(3.33%),SLC26A4(3.33%)and SERPINB7(2.50%).Among the 70 subjects who underwent physical examination,5(7.14%),2(2.86%),1(1.43%),1(1.43%),1(1.43%)and 1(1.43%)of them were found to be at high genetic risk for Alzheimer's disease,ankylosing spondylitis,Sjogren's syndrome,gallstones,prostate cancer and multiple myeloma,respectively.Another 2 subjects(2.86%)and 1 subject(1.43%)were found to have low genetic risk for psoriasis and cataracts,respectively.The 100%subjects will not respond or experience adverse reactions to at least one medication.Conclusions The physical examination subjects in this study can benefit to various degrees from WGS.The further promotion of WGS in physical examination population may help with disease prevention and health management throughout their entire life cycle.

关 键 词：全基因组测序 单基因遗传病 体检 健康管理 

分 类 号：R446.1[医药卫生—诊断学]