2023 NSGC 循证实践指南:扩大携带者筛查以进行生殖风险评估

2023-02-09 国家遗传咨询师学会 J Genet Couns 发表于安徽省

扩大携带者筛查 (ECS) 旨在对健康个体进行广泛筛查,以确定他们患有常染色体隐性遗传 (AR) 和 X 连锁 (XL) 疾病并伴有婴儿期或幼儿期发病的生殖机会,这可能会影响生殖管理(委员会意见 69

中文标题:

2023 NSGC 循证实践指南:扩大携带者筛查以进行生殖风险评估

英文标题:

Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors

发布机构:

国家遗传咨询师学会

发布日期:

2023-02-09

简要介绍:

扩大携带者筛查 (ECS) 旨在对健康个体进行广泛筛查,以确定他们患有常染色体隐性遗传 (AR) 和 X 连锁 (XL) 疾病并伴有婴儿期或幼儿期发病的生殖机会,这可能会影响生殖管理(委员会意见 690,产科和妇科, 2017, 129, e35). 与基于种族的筛查(后者需要准确了解血统以进行最佳测试选择和适当的风险评估)相比,ECS panel 包含数十至数百种 AR 和 XL 病症,这些病症在不同血统中可能很少见,但提供了一种综合的遗传病方法筛选。因此,术语“公平携带者筛选”可能更可取。该实践指南使用 GRADE Evidence to Decision 框架为 ECS 提供基于证据的建议(Guyatt 等人,BMJ,2008,336,995;Guyatt 等人,BMJ,2008,336,924)。我们使用了来自最近系统证据审查的证据(Ramdaney 等人,医学遗传学, 2022, 20, 374) 以及来自同行评审文献、科学会议和临床经验的汇编数据。我们定义并优先考虑知情同意的结果、生殖计划的改变、高危携带者对/怀孕的识别率、ECS 的感知障碍、提供者花费的时间、医疗保健费用、严重/严重影响后代的频率、偶然结果、不确定的结果、患者满意度和提供者​​的态度。尽管在管理策略的实施和改变方面存在公认的障碍,但该分析支持为这些成果实施 ECS。根据目前的证据水平,我们建议为所有考虑生育的个人和所有怀孕的生殖对提供 ECS,因为 ECS 提出了一种基于种族的携带者筛查替代方案,它不依赖于基于种族的医学。进行携带者筛查的最终决定应由共同决策指导,该决策应考虑患者的具体特征以及他们的偏好和价值观。作为围孕期生殖风险评估工具,ECS 优于基于种族的携带者筛查,因为它既能识别出更多的 AR 和 XL 病症携带者,又能消除单一的基于种族的医疗实践。ECS 应提供给所有目前怀孕、考虑怀孕或可能在生物学上有助于怀孕的人。

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Local and national continuing education opportunities and the discussion of all issues relevant to human genetics and the genetic counseling profession are an integral part of membership in NSGC. The National Society of Genetic Counselors (NSGC) promotes the professional interests of genetic counselors and provides a network for professional communications. Local and national continuing education opportunities and the discussion of all issues relevant to human genetics and the genetic counseling profession are an integral part of belonging to the NSGC. This new and important member of the genetics team was introduced in 1971 when the first class of master&#039;s degree genetic counselors graduated from Sarah Lawrence College in Bronxville, NY. With this profession&#039;s unique knowledge and skills in counseling and human genetics, genetic counseling professionals rapidly became an integral member of the clinical genetics team. Growth and development within the profession and the recognition of a unique identity provided the impetus for the formation of a responsive professional society. To that end, the National Society of Genetic Counselors was incorporated in 1979. The Society&#039;s Vision: Integrating genetics and genomics to improve health for all. 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