多基因分数和健康的社会决定因素:它们的相关性和潜在的偏见
Daniel J Schaid1, Shannon K McDonnell1, Farida S Akhtari2
1Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55905, USA.
HGG advances
|November 28, 2024
概括
多基因分数 (PGS) 与健康的社会决定因素 (SDoH) 有着多种相关性. 包括SDoH对于准确的PGS风险预测和公平的精准医学至关重要.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 公共卫生 公共卫生
- 个性化医疗是个性化的医疗.
背景情况:
- 多基因分数 (PGS) 越来越多地用于个性化医学.
- 人们担心它们有可能加剧健康差距.
- 在遗传学研究和健康的社会决定因素 (SDoH) 的考虑中,需要更大的祖先多样性.
研究的目的:
- 研究一大组多基因分数 (PGS) 和健康的社会决定因素 (SDoH) 之间的相关性.
- 量化PGS效应大小估计中的潜在偏差,当SDoH从模型中省略时.
- 强调将SDoH纳入PGS分析的重要性,以实现公平的精准医学.
主要方法:
- 从PGS目录和个性化环境和基因研究 (PEGS) 队列中的SDoH措施中计算了3,030个PGS之间的相关性.
- 分析了不同SDoH主题之间的相关性异质性.
- 由于遗漏了SDoH预测因素,PGS效应大小的预期偏差被量化.
主要成果:
- 大多数PGS和SDoH之间的相关性都很小,通常从-0.05到0.05.5不等.
- 在SDoH主题中观察到相关性的显著异质性,特别是与身体测量,吸烟和常见疾病相关的PGS.
- 忽略SDoH作为预测因素可能会导致对PGS对疾病风险影响大小的偏见估计.
结论:
- 虽然直接相关性往往是温和的,但SDoH与各种PGS呈现异质关系.
- 将SDoH集成到与PGS的模型中,对于防止有偏见的风险评估至关重要.
- 这种整合对于实现公平的精准医学和减轻健康差异至关重要.
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