Returning personalized, genetic health test results to individuals of African descent or ancestry in precision medicine research.
Returning personalized, genetic health test results to individuals of African descent or ancestry in precision medicine research.
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DOI：
10.1093/haschl/qxad066
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发表时间：
2023-12
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今天，许多流行病学研究和生物库都向其参与者提供个人遗传结果，包括美国国立卫生研究院的All of Us研究计划。将遗传性疾病风险和药物遗传学测试结果返回给来自历史上在生物医学研究中代表性不足的种族/族裔群体的研究参与者，对这些参与者和卫生系统提出了具体的挑战。例如，非洲人后裔在药物-基因相互作用研究中的代表性不足，其重要性未知的变异比例相对较高，影响了他们在结果返回后采取临床行动的能力。在这份简短的报告中，我们总结了迄今为止发表的关于从事遗传研究项目的非裔美国人的观点和/或态度的研究，以预测披露协议中的因素，从而最大限度地降低风险并最大限度地提高收益。确定的研究（n = 6）的主题分析借到主题的动机，从事或脱离的回报的结果和整合的研究和护理。针对这些主题确定的可行战略集中在确保为参与者提供充分的系统和健康教育支持，并为参与者提供个性化的结果回报过程。总的来说，我们提供这些主题和可操作的策略作为研究计划的早期指导，并向政策制定者提供建议，重点是公平和公正地将遗传研究成果返还给代表性不足的研究参与者。
Today, many epidemiological studies and biobanks are offering to disclose individual genetic results to their participants, including the National Institutes of Health's All of Us Research Program. Returning hereditary disease risks and pharmacogenetic test results to study participants from racial/ethnic groups that are historically underrepresented in biomedical research poses specific challenges to those participants and the health system writ large. For example, individuals of African descent are underrepresented in research about drug–gene interactions and have a relatively higher proportion of variants of unknown significance, affecting their ability to take clinical action following return of results. In this brief report, we summarize studies published to date concerning the perspectives and/or attitudes of African Americans engaged in genetic research programs to anticipate factors in disclosure protocols that would minimize risks and maximize benefits. A thematic analysis of studies identified (n = 6) lends to themes centered on motivations to engage or disengage in the return of results and integrating research and care. Actionable strategies determined in reaction to these themes center on ensuring adequate system and health education support for participants and personalizing the process for participants engaging in return of results. Overall, we offer these themes and actionable strategies as early guidance to research programs, and provide recommendations to policy makers focused on fair and equitable return of genetic research results to underrepresented research participants.