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What Are Our AIMs? Interdisciplinary Perspectives on the Use of Ancestry Estimation in Disease Research

机译:我们的目标是什么?在疾病研究中使用祖先估计的跨学科视角

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Background: Ancestry estimation serves as a tool to identify genetic contributions to disease but may contribute to racial discrimination and stigmatization. We sought to understand user perspectives on the benefits and harms of ancestry estimation to inform research practice and contribute to debates about the use of race and ancestry in genetics. Methods: Key informant interviews with 22 scientists were conducted to examine scientists' understandings of the benefits and harms of ancestry estimation. Results: Three main perspectives were observed among key informant scientists who use ancestry estimation in genetic epidemiology research. Population geneticists self-identified as educators who controlled the meaning and application of ancestry estimation in research. Clinician-researchers were optimistic about the application of ancestry estimation to individualized risk assessment and personalized medicine. Epidemiologists remained ambivalent toward ancestry estimation and suggested a continued role for race in their research. Conclusions: We observed an imbalance of control over the meaning and application of ancestry estimation among disciplines that may result in unwarranted or premature translation of ancestry estimation into medicine and public health. Differences in disciplinary perspectives need to be addressed if translational benefits of genetic ancestry estimation are to be realized.
机译:背景:祖先估计可作为确定遗传对疾病的贡献的工具,但可能有助于种族歧视和污名化。我们试图了解用户对谱系估计的利弊的观点,以为研究实践提供参考,并为有关种族和谱系在遗传学中的用途的辩论做出贡献。方法:对22位科学家进行了关键的知情人访谈,以检验科学家对祖先估计的利弊的理解。结果:在遗传流行病学研究中使用祖先估计的关键信息科学家中观察到了三个主要观点。群体遗传学家自认是教育者,他们控制祖先估计在研究中的意义和应用。临床研究人员对祖先估计在个体化风险评估和个体化医学中的应用持乐观态度。流行病学家对血统估计仍持矛盾态度,并建议种族在他们的研究中继续发挥作用。结论:我们观察到各个学科之间对祖先估计的含义和应用的控制不平衡,这可能导致将祖先估计无端或过早地转化为医学和公共卫生。如果要实现遗传谱系估计的翻译益处,就必须解决学科观点的差异。

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