Innovating for a Just and Equitable Future in Genomic and Precision Medicine Research.
Innovating for a Just and Equitable Future in Genomic and Precision Medicine Research.
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创新基因组和精确医学研究的公正和公平未来。
DOI：
10.1080/15265161.2023.2215201
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发表时间：
2023-07
影响因子：
13.4
通讯作者：
Lee, Sandra Soo-Jin
中科院分区：
文献类型：
--
作者：
Dolan, Deanne Dunbar;Cho, Mildred K.;Lee, Sandra Soo-Jin
从一开始，基因组学就一直是一项投机性的努力，专注于一个遥远的地平线，它将实现有针对性的诊断和个性化治疗的承诺。最近，精准医学研究的数据驱动方法通过调查基因、环境和生活方式的个体差异，进一步推动了这一趋势（Jooma et al. 2019）。在基因组学和精准医学方面的大量投资已经开始产生临床上有用的干预措施，然而关于收益和获取的问题给我们实现公平目标的能力带来了不确定性。美国国家人类基因组研究所（National Human Genome Research Institute）预测，到2030年，“来自不同祖先背景的个体将公平地受益于人类基因组学的进步”，如果这一预测得到认真对待，那么道德、法律、和社会影响（ELSI）研究必须涉及公平的意义，以及基因组和精准医学是否以及如何在以极端经济不平等和结构性种族主义为特征的地缘政治环境中实现这些目标的问题（Chancel和Piketty 2021； Green等人2020,690;Yearby, Clark, and Figueroa 2022）。科学实践的透明度以及基因组和精准医学所需的广泛数据收集和三角测量对于产生可信赖的科学至关重要（Lee et al. 2019）。抽样偏差导致研究数据集主要由来自欧洲血统的个体的样本组成（Popejoy和Fullerton 2016； Tsosie等人，2021），这意味着在基因组研究中代表性不足的人群更有可能在临床中获得非信息性或不准确的基因检测结果（Burke 2021； Chapman-Davis等人，2021；Landry和Rehm 2018； Manrai等人，2016）。由于负担能力、遗传知识和对医疗保健系统的信任，获得基因检测和干预的机会不平等已经破坏了基因组应用的实施（Khoury et al. 2022）。美国低收入和少数族裔患者在获得遗传服务方面的差异和延迟有很好的记录（Chapman-Davis等人，2021年；Fraiman和Wojcik 2021年；Gene Hallford等人，2020年；Hoskins等人，2018年；Omorodion等人，2022年；Shields, Burke， and Levy 2008年；Wojcik等人，2023年）。这些障碍可能会决定哪些美国人能够从基因组和精准医学的大量公共投资中获得和受益，并可能破坏公众对科学的信任（Lee 2021; Lee et al. 2019; Reardon et al. 2023）。要充分实现公平的承诺，就需要对社会政治、经济、法律、监管和环境因素的研究进行投资，与基因组学的公共投资相媲美（Lee 2021）。利用多学科专业知识和ELSI奖学金来解决关键问题应该是至关重要的，包括能够阐明建筑环境和卫生系统在促进或阻碍公平获取方面的作用的学者和奖学金，确定和优先考虑社区利益的方法，建立透明的公私伙伴关系，以及设计有效的参与来定义基因组和精准医学的公共利益。这意味着以边缘化人群的经验为中心，制定政策和做法，使在生物医学研究中代表性不足的社区能够就其研究参与、数据所有权和公平利益的含义进行谈判（Fox 2020; Tsosie et al. 2021）。本期《美国生命伦理学杂志》特刊包括ELSI研究，重点关注公平和包容不同公众……
From its inception, genomics has been a speculative endeavor, fixated on a far-off horizon that would deliver on the promise of targeted diagnostics and individualized therapeutics (Fortun 2008). More recently, the data-driven approach of precision medicine research furthers this trajectory by investigating individual differences in genes, environment, and lifestyle (Jooma et al. 2019). The substantial investment in genomic and precision medicine has begun to yield clinically useful interventions, yet questions about benefit and access create uncertainty about our ability to achieve equity goals. If the prediction by the National Human Genome Research Institute that “individuals from ancestrally diverse backgrounds will benefit equitably from advances in human genomics” by 2030 is to be taken seriously, ethical, legal, and social implications (ELSI) research must engage with the meaning of equity and questions about whether and how genomic and precision medicine can achieve these goals in a geopolitical landscape characterized by extreme economic inequality and structural racism (Chancel and Piketty 2021; Green et al. 2020, 690; Yearby, Clark, and Figueroa 2022). Transparency about scientific practice and the extensive data collection and triangulation necessary for genomic and precision medicine will be critical to the production of trustworthy science (Lee et al. 2019). Sampling bias resulting in research datasets comprised mostly of samples from individuals of European ancestry (Popejoy and Fullerton 2016; Tsosie et al. 2021) means that peoples underrepresented in genomic research studies are more likely to receive non-informative or inaccurate genetic test results in the clinic (Burke 2021; Chapman-Davis et al. 2021; Landry and Rehm 2018; Manrai et al. 2016). Unequal access to genetic testing and interventions due to affordability, genetic literacy, and trust in the healthcare system have already undermined implementation of genomic applications (Khoury et al. 2022). Disparities and delays in access to genetic services for low income and minority patients in the US are well documented (Chapman-Davis et al. 2021; Fraiman and Wojcik 2021; Gene Hallford et al. 2020; Hoskins et al. 2018; Omorodion et al. 2022; Shields, Burke, and Levy 2008; Wojcik et al. 2023). These barriers are likely to determine which Americans will be able to access and benefit from the substantial public investment in genomic and precision medicine and may undermine public trust in science (Lee 2021; Lee et al. 2019; Reardon et al. 2023). Fully realizing the promise of equity will require investment in the study of sociopolitical, economic, legal, regulatory, and environmental factors that parallels the public investment in genomics (Lee 2021). Leveraging multidisciplinary expertise and ELSI scholarship to address key questions should be paramount, including scholars and scholarship that can elucidate the roles of the built environment and health systems in facilitating or impeding equitable access, approaches for identifying and prioritizing the interests of communities, the creation of transparent public-private partnerships, and design of effective engagement to define the public good for genomic and precision medicine. This means centering the experiences of marginalized populations to create policies and practices that empower communities underrepresented in biomedical research to negotiate the terms of their research participation, ownership of their data, and the meaning of equitable benefit (Fox 2020; Tsosie et al. 2021). This special issue of the American Journal of Bioethics comprises ELSI research focused on equity and inclusion of diverse publics in …
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影响因子：
64.8
作者：
Green ED;Gunter C;Biesecker LG;Di Francesco V;Easter CL;Feingold EA;Felsenfeld AL;Kaufman DJ;Ostrander EA;Pavan WJ;Phillippy AM;Wise AL;Dayal JG;Kish BJ;Mandich A;Wellington CR;Wetterstrand KA;Bates SA;Leja D;Vasquez S;Gahl WA;Graham BJ;Kastner DL;Liu P;Rodriguez LL;Solomon BD;Bonham VL;Brody LC;Hutter CM;Manolio TA
通讯作者：
Manolio TA
影响因子：
3.6
作者：
Fraiman YS;Wojcik MH
通讯作者：
Wojcik MH
影响因子：
24
作者：
Landry, Latrice G.;Rehm, Heidi L.
通讯作者：
Rehm, Heidi L.
影响因子：
3.2
作者：
Jooma, Sonya;Hahn, Michael J.;Bonham, Vence L.
通讯作者：
Bonham, Vence L.
影响因子：
13.4
作者：
Conley, John M.;Cadigan, R. Jean;Henderson, Gail E.
通讯作者：
Henderson, Gail E.