Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
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DOI：
10.1097/00125817-200103000-00010
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发表时间：
2001-03-01
影响因子：
8.8
通讯作者：
Desnick, Robert J.
中科院分区：
文献类型：
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作者：
Grody, Wayne W.;Cutting, Garry R.;Desnick, Robert J.
1997年，美国国立卫生研究院召开了囊性纤维化（CF）共识发展会议。 1 共识会议建议，应提供 CF 突变基因筛查，以识别有 CF 阳性家族史的成年人、CF 患者的伴侣、目前计划怀孕的夫妇以及寻求产前护理的夫妇中的携带者。 1998 年，举行了第二次 NIH 主办的会议，重点关注共识会议建议的实施。2 此后不久，美国医学遗传学学院 (ACMG) 和美国妇产科医师学会 (ACOG) 与国家人类基因组研究所联合成立了一个指导委员会，以协调基于人群的 CF 携带者筛查的实施，并为以下方面制定“临床和实验室提供者指南”：(1) 提供者教育；(2) 实验室测试、解释和遗传咨询； (3) 患者教育和知情同意。ACMG 责成由 Robert Desnick 博士担任主席的遗传服务认证委员会成立囊性纤维化携带者筛查小组委员会（以下简称“委员会”），以制定最佳实验室检测、解释和咨询的建议和指南。该小组委员会由博士共同主持。 Wayne Grody 和 Garry Cutting，自 1998 年 10 月起每年举行两次会议。委员会考虑的问题包括 (1) 筛查的目标人群（普遍与仅限于某些高危族群）；(2) 所使用的筛查模式（基于夫妇与序贯）；(3) 标准突变检测组的标准和选择；(4) 具有额外突变的扩展检测组的潜在价值和使用；(5) 是否检测与轻度或慢性相关的突变和变异。非经典表型（例如先天性双侧输精管缺失）；(6) 测试解释、报告和遗传咨询； (7)实验室质量保证。此处详述的建议已纳入 ACMG/ACOG/NIH 联合指导委员会
In 1997, the National Institutes of Health convened a Consensus Development Conference on Cystic Fibrosis (CF). 1 The Consensus Conference recommended that genetic screening for CF mutations should be offered to identify carriers among adults with a positive family history of CF, partners of individuals with CF, couples currently planning a pregnancy, and couples seeking prenatal care. A second NIH-sponsored conference that focused on the implementation of the Consensus Conference recommendations was held in 1998. 2 Shortly thereafter, the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG), in conjunction with the National Human Genome Research Institute, formed a Steering Committee to coordinate the implementation of population-based CF carrier screening and to develop “Clinical and Laboratory Provider Guidelines” for (1) provider education;(2) laboratory testing, interpretation, and genetic counseling; and (3) patient education and informed consent.The ACMG charged the Accreditation of Genetic Services Committee, chaired by Dr. Robert Desnick, to establish a Subcommittee on Cystic Fibrosis Carrier Screening (henceforth the “Committee”) to develop recommendations and guidelines for optimal laboratory testing, interpretation, and counseling. The Subcommittee, cochaired by Drs. Wayne Grody and Garry Cutting, met twice yearly since October 1998. The issues considered by the Committee included (1) the target population to be screened (universal vs. limited to certain high-risk ethnic groups);(2) the screening model to be used (couple-based vs. sequential);(3) criteria for and selection of the standard mutation testing panel;(4) potential value and use of an extended testing panel with additional mutations;(5) whether to test for mutations and variants associated with mild or nonclassical phenotypes (such as congenital bilateral absence of the vas deferens);(6) test interpretation, reporting, and genetic counseling; and (7) laboratory quality assurance. The recommendations detailed here have been incorporated into a joint ACMG/ACOG/NIH Steering Committee