Gerido Lynette Hammond, Resnicow Kenneth, Stoffel Elena M, Tomlin Tiah, Cook-Deegan Robert, Cline Melissa, Coffin Amy, Holdren Jill, Majumder Mary Anderlik, He Zhe
Department of Bioethics, School of Medicine, Case Western Reserve University, 10900 Euclid Ave, Cleveland, OH, 44106-4976, USA.
School of Public Health, University of Michigan, Ann Arbor, MI, USA.
J Community Genet. 2023 Dec;14(6):657-665. doi: 10.1007/s12687-023-00673-9. Epub 2023 Sep 29.
As cost-effective next-generation genome sequencing rapidly develops, calls for greater inclusion of Black people in genomic research, policy, and practice are necessary for effective translation of genomic science into precision population health and medicine. Employing a community-based participatory mixed methods research design, we developed a semi-structured survey that was disseminated to three cancer advocacy organizations. Of the 81 survey respondents 49 (60%) self-identified as Black, and 26 (32%) indicated a prior breast cancer diagnosis. Black participants' expressed concerns about genetic testing were evenly distributed between concerns that could be addressed through genetic counseling (24%) and concerns about subsequent use of their genetic data (27%). Patient advocates contributed to contextualization of respondent concerns in terms of community experiences. Although genetic counseling services and policies governing genomic data use are not always accessible to many Black communities, advocates on our research team provided a bridge to discussion of the intersection between respondent concerns and the roles advocates play in filling gaps in access to genetic counseling and data governance. Concerns expressed by Black patients underscore a shared need among all patients for access to education, inclusion in research, and assurances regarding the use and handling of genetic data. Black cancer patients have joined in patient-led efforts to overcome systemic inequities in cancer care to improve their health outcomes through representation. Often their efforts are overshadowed by a relentless burden of continued health disparities. Future research should support their hidden work as a means to reduce barriers and improve representation in genomic databases.
随着具有成本效益的下一代基因组测序技术迅速发展，为了将基因组科学有效地转化为精准的群体健康与医学，有必要呼吁在基因组研究、政策和实践中更多地纳入黑人。我们采用基于社区参与的混合方法研究设计，开发了一项半结构化调查，并将其分发给三个癌症倡导组织。在81名调查受访者中，49人（60%）自我认定为黑人，26人（32%）表示曾被诊断患有乳腺癌。黑人参与者对基因检测表达的担忧，在可通过遗传咨询解决的担忧（24%）和对其基因数据后续使用的担忧（27%）之间平均分布。患者倡导者根据社区经验，对受访者的担忧进行了背景化分析。尽管许多黑人社区并不总能获得遗传咨询服务和关于基因组数据使用的政策，但我们研究团队中的倡导者为讨论受访者的担忧与倡导者在填补遗传咨询和数据治理获取差距方面所起作用之间的交叉点提供了桥梁。黑人患者表达的担忧凸显了所有患者对获得教育、参与研究以及对基因数据使用和处理的保证的共同需求。黑人癌症患者参与了由患者主导的努力，以克服癌症护理中的系统性不平等，通过代表性来改善他们的健康结果。他们的努力常常被持续存在的健康差距这一无情负担所掩盖。未来的研究应该支持他们默默付出的努力，以此作为减少障碍并提高在基因组数据库中代表性的一种手段。
