Responsible implementation of expanded carrier screening.
Responsible implementation of expanded carrier screening.
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DOI：
10.1038/ejhg.2015.271
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发表时间：
2016-06
期刊：
影响因子：
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通讯作者：
Peterlin B
中科院分区：
文献类型：
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作者：
Henneman L;Borry P;Chokoshvili D;Cornel MC;van El CG;Forzano F;Hall A;Howard HC;Janssens S;Kayserili H;Lakeman P;Lucassen A;Metcalfe SA;Vidmar L;de Wert G;Dondorp WJ;Peterlin B
欧洲人类遗传学会的这份文件包含有关负责任地实施扩大携带者筛查的建议。携带者筛查在这里被定义为检测夫妇或基于其或其伴侣的个人或家族史而没有先验增加的携带者风险的人的隐性疾病携带者状态。扩展的载体筛选提供了载体筛选多种常染色体和X连锁隐性遗传疾病，促进了新的基因检测技术，并允许测试的个人，无论祖先或地理来源。携带者筛查的目的是确定夫妇谁有受影响的孩子的风险增加，以促进知情的生殖决策。在过去的几十年中，通常对一种或几种相对常见的隐性疾病进行携带者筛查，这些疾病与显著的发病率、预期寿命降低相关，并且通常是因为特定人群中某些疾病的携带者频率相当高。新的基因检测技术能够将筛查扩展到多种条件、基因或序列变体。迄今为止，已经推出的扩大的携带者筛查小组已经在商业基础上向卫生保健专业人员和公众做了广告和提供。本文件讨论了扩大携带者筛查可能带来的挑战，从几十年的人口为基础的携带者筛查的经验教训的背景下，在现有的筛选标准的背景下。它旨在促进公众和专业讨论，并达成更好的临床和实验室实践指南。
This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.