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植入前遗传检测对多基因疾病的承诺和陷:叙述性审查
Jaime A Roura-Monllor1, Zachary Walker2,3, Joel M Reynolds4,5,6
1University of North Carolina at Chapel Hill, Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Chapel Hill, NC, USA.
F&S reviews
|April 11, 2025
概括
对多基因疾病的植入前遗传检测 (PGT-P) 对多因素疾病提供了适度的风险降低. 广泛的患者接受与临床医生对成本,咨询和道德影响的保留形成鲜明对比.
科学领域:
- 生殖遗传学 生殖遗传学
- 医学伦理学医学伦理学
- 公共卫生 公共卫生
背景情况:
- 对多基因疾病的植入前遗传检测 (PGT-P) 是一种使用多基因风险评分的新技术.
- 它的目标是受遗传学,环境和生活方式影响的多因素条件.
- 自2019年以来,PGT-P已在商业上提供.
研究的目的:
- 评估PGT-P.目前的状态,潜在的好处和挑战.
- 探索患者,公众和临床医师对PGT-P.的看法.
- 确定PGT-P实施的伦理,社会和实际考虑因素.
主要方法:
- 对PGT-P预测的绝对风险降低的分析.
- 对有关利益相关者的观点进行调查和采访数据的审查.
- 检查道德和社会问题,包括咨询,正义和健康公平.
主要成果:
- 对后代的潜在绝对风险降低范围在0.02%至10.1%之间.
- 患者和公众普遍认为PGT-P有利于疾病预防.
- 临床医生对成本,咨询负担,胚胎创造和患者期望表示重大保留.
结论:
- PGT-P引发了大量的伦理和社会问题,包括公平的准入和现实的期望.
- 在广泛采用之前,需要进一步的临床验证和长期结果数据.
- 需要在遗传咨询和生殖服务方面进行系统性改进,才能实现PGT-P的道德实施.
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