首页|综合性携带者筛查关键问题专家共识(2024版)

综合性携带者筛查关键问题专家共识(2024版)

扫码查看
综合性携带者筛查是一项针对没有明显遗传病表型,但可能携带遗传病基因致病变异的个体进行的筛查性检测。与常规携带者筛查的区别是,综合性携带者筛查的疾病不仅包括隐性遗传病,也包括具有临床干预意义的成年显性遗传病。综合性携带者筛查旨在提前发现中度及以上严重程度遗传病的生育高风险夫妻和患病高风险个体,为遗传咨询、生殖决策、疾病预防和管理提供依据,减少由遗传病带来的家庭和社会经济负担,提高人群健康水平。目前,携带者筛查相关指南和共识主要涉及常染色体隐性和X连锁遗传病。为介绍和规范综合性携带者筛查的应用,中国遗传学会遗传诊断分会和上海市遗传学会临床遗传与遗传咨询专委会组织部分专家,结合国内外最新进展,制定本共识。共识讨论了综合性携带者筛查的定义和目的、适用人群、筛查基因和疾病的选择原则、筛查策略、报告原则和遗传咨询等关键问题,供政策制定者、临床工作者、检测机构和民众参考。 Comprehensive carrier screening (CCS) is a screening test performed on individuals without overt phenotype for genetic disorders but who might have pathogenic variants in disease genes. Currently existing guidelines and consensus for carrier screening mainly focus on autosomal recessive and X-linked genetic disorders, CCS expands its scope beyond these conditions to include dominant conditions with clinical actionability in adulthood. Thus, the goal of CCS is to proactively identify not only at-risk couples of having offspring with moderate to profound genetic disorders, but also at-risk individuals being affected by these disorders. Therefore, CCS serves as a more comprehensive basis for genetic counseling, reproductive decision-making, disease prevention and management, which in turn can better serve the purpose of reducing the familial and socio-economic burdens associated with genetic disorders and improving the overall health of general population. To introduce and standardize the implementation of CCS, the Genetics Diagnosis Branch of Chinese Genetic Society and the Clinical Genetics and Genetic Counseling Committee of Shanghai Society of Genetics organized an expert panel to develop this consensus. The consensus covers key issues related to CCS, including its definition and purpose, the target population, criteria for designing screening panel, screening strategies, reporting guidelines, and genetic counseling. This consensus serves as a reference for policymakers, healthcare professionals, laboratory geneticists, and the general public.
Expert consensus on key issues of comprehensive carrier screening (2024 edition)
Comprehensive carrier screening (CCS) is a screening test performed on individuals without overt phenotype for genetic disorders but who might have pathogenic variants in disease genes. Currently existing guidelines and consensus for carrier screening mainly focus on autosomal recessive and X-linked genetic disorders, CCS expands its scope beyond these conditions to include dominant conditions with clinical actionability in adulthood. Thus, the goal of CCS is to proactively identify not only at-risk couples of having offspring with moderate to profound genetic disorders, but also at-risk individuals being affected by these disorders. Therefore, CCS serves as a more comprehensive basis for genetic counseling, reproductive decision-making, disease prevention and management, which in turn can better serve the purpose of reducing the familial and socio-economic burdens associated with genetic disorders and improving the overall health of general population. To introduce and standardize the implementation of CCS, the Genetics Diagnosis Branch of Chinese Genetic Society and the Clinical Genetics and Genetic Counseling Committee of Shanghai Society of Genetics organized an expert panel to develop this consensus. The consensus covers key issues related to CCS, including its definition and purpose, the target population, criteria for designing screening panel, screening strategies, reporting guidelines, and genetic counseling. This consensus serves as a reference for policymakers, healthcare professionals, laboratory geneticists, and the general public.

Comprehensive carrier screeningDominant genetic disorderRecessive genetic disorderExpert consensus

卢大儒、安宇、沈亦平

展开 >

重庆市人口和计划生育科学技术研究院/国家卫生健康委出生缺陷与生殖健康重点实验室,重庆 401120,复旦大学附属妇产科医院/基因技术教育部工程研究中心,上海 200433

复旦大学人类表型组研究院,上海 201203

哈佛医学院波士顿儿童医院遗传与基因组部,美国波士顿 02115

综合性携带者筛查 显性遗传病 隐性遗传病 专家共识

国家重点研发专项课题国家自然科学基金重庆市自然科学基金重点项目

2023YFC270560282071276cstc2020jcyjzdxmX0011

2024

国际遗传学杂志
中华医学会 哈尔滨医科大学

国际遗传学杂志

影响因子:0.175
ISSN:1673-4386
年,卷(期):2024.47(1)
  • 38