研究队列中的二次发现:频谱和印度观点
Pooja Motwani1, Rajesh K Maurya1, Dhwoni1
1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
American journal of medical genetics. Part A
|August 5, 2025
概括
基因组测序的二次发现 (SF) 在印度2.2%的家庭中发生,主要发生在心血管和癌症基因中. 大多数家长支持将SF纳入遗传检测,但成本是一个问题.
科学领域:
- 遗传学 是一个遗传学.
- 基因组医学是基因组医学.
- 医学遗传学 医学遗传学
背景情况:
- 基因组测序揭示了与患者表型相关的初级发现和可操作的次要发现 (SF).
- 关于印度人口中SF类型,频率和患者观点的数据有限.
- 了解患者对SF的态度对于将基因组测试纳入医疗保健至关重要.
研究的目的:
- 使用外体序列测序确定印度队列中的SF频率和类型.
- 评估家长对为自己和家人接受SF的看法.
- 为临床实践和医疗保健系统准备基因组测试提供信息.
主要方法:
- 在500个家族的SF基因 (ACMG v3.2) 中确定了致病性/可能致病性 (P/LP) 变异,这些变异正在进行研究外基因测序.
- 对家庭子集中的有风险个体进行了表型诊断测试.
- 管理了一项问卷调查,以评估家长对SF在诊断外基因组测序中的纳入的观点.
主要成果:
- 观察到SFs的频率为2.2%,在11个家族中有12个P/LP变体,主要在心血管 (6) 和癌症 (5) 基因中.
- 大多数家长支持将SF纳入试验试验 (97.2%) 和自己 (84.7%).
- 财务限制影响了愿意支付额外的SF相关测试的意愿,尽管有利于全面的知识.
结论:
- 这项研究提供了关于印度人口中SF频率和类型的综合数据.
- 临床医生必须提供全面的预试验咨询,强调长期跟踪和变异解释.
- 随着基因组诊断测试的兴起,医疗保健系统需要为公平和可持续的护理做好准备.
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