穿着羊皮的狼:多基因分数的理想化和目标
1Department of Economics and Management, University of Trento, Via Vigilio Inama 5, 38122, Trento, Italy; Interdisciplinary Centre for Ethics & Institute of Philosophy, Jagiellonian University, Grodzka 52, 31-044 Kraków, Poland.
Studies in history and philosophy of science
|October 31, 2023
概括
多基因分数 (PGS) 总结了疾病风险的遗传变异效应. 本研究质疑PGS模型中的理论假设和理想化,影响其临床解释和准确性.
科学领域:
- 遗传学 遗传学 是一个
- 药物基因组学 药物基因组学
- 精准医学是一门精准的医学.
背景情况:
- 多基因分数 (PGS) 越来越多地用于精准医学,通过聚合多个遗传变异的影响来预测个体疾病风险.
- 用于PGS计算的定量遗传学模型背后的理论假设和理想化得到了有限的关注.
- 人们对这些理想化对临床决策的认识论和伦理影响存在担忧.
研究的目的:
- 研究遗传学模型中的理想化对数据收集和基因组学发现的临床解释的影响.
- 分析PGS计算中的理想化如何影响其预测准确度.
- 检查遗传理论中的理想化的历史演变及其在当代基因组学中的合法性.
主要方法:
- 在用于多基因分数的定量遗传学模型中对理想化的分析.
- 在遗传理论化中的理想化适应的历史回顾.
- 评价理想化对PGS的认识目标和合法性的影响.
主要成果:
- 遗传学模型中的理想化,特别是PGS,可以显著影响数据解释和预测准确性.
- 在遗传学中,理想化的历史用途已经演变,随着认识目的的变化.
- 目前对PGS临床应用的理想化的合法性仍然值得怀疑.
结论:
- 多基因分数模型中固有的理想化需要仔细考虑它们对临床实用性的影响.
- 需要进一步审查,以确保医疗保健中PGS的认识论和伦理健全性.
- 了解理想化的历史背景对于评估它们在基因组学中的当代相关性至关重要.
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