Gerido Lynette Hammond, Resnicow Kenneth, Stoffel Elena, Tomlin Tiah, Cook-Deegan Robert, Cline Melissa, Coffin Amy, Holdren Jill, Majumder Mary Anderlik, He Zhe
University of Michigan School of Public Health.
University of Michigan Rogel Cancer Center.
Res Sq. 2023 Mar 20:rs.3.rs-2340760. doi: 10.21203/rs.3.rs-2340760/v1.
Public health genomics prioritizes effective and ethical translation of genomic science into population health precision medicine. With the rapid development of cost-effective, next-generation genome sequencing, calls are growing for greater inclusion of Black people in genomic research, policy, and practice. Genetic testing is often the first step in precision medicine. This study explores racial differences in patient concerns about genetic testing for hereditary breast cancer. Employing a community-based participatory mixed methods research design, we developed a semi-structured survey that was shared broadly. There were 81 survey respondents, of which, forty-nine (60%) self-identified as Black, twenty-six (32%) indicated they had a history of a breast cancer diagnosis, or had received BRCA genetic testing. Black participants who expressed concerns about genetic testing were fairly equally distributed between concerns that could be addressed with genetic counseling (24%) and concerns about the subsequent use of their genetic data (27%). The concerns expressed by the participants in our study underscore a need for transparent disclosures and assurances regarding the use and handling of genetic data. These findings should be viewed in context with patient-led efforts to overcome systemic inequities in cancer care, as Black cancer patients have joined forces with advocates and researchers to develop protective health data initiatives and to improve their representation in genomic datasets. Future research should prioritize the information needs and concerns of Black cancer patients. Interventions should be developed to support their hidden work as a means to reduce barriers and improve representation in precision medicine.
公共卫生基因组学将基因组科学有效且符合伦理地转化为人群健康精准医学作为优先事项。随着具有成本效益的新一代基因组测序技术的迅速发展,要求让黑人更多地参与基因组研究、政策制定和实践的呼声越来越高。基因检测往往是精准医学的第一步。本研究探讨了患者对遗传性乳腺癌基因检测的担忧方面的种族差异。采用基于社区参与的混合方法研究设计,我们开发了一项广泛共享的半结构化调查。共有81名调查受访者,其中49人(60%)自我认定为黑人,26人(32%)表示他们有乳腺癌诊断史或接受过BRCA基因检测。对基因检测表示担忧的黑人参与者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%)之间分布相当均匀。我们研究中的参与者所表达的担忧凸显了在基因数据的使用和处理方面进行透明披露和保证的必要性。这些发现应结合患者主导的克服癌症护理系统性不平等的努力来审视,因为黑人癌症患者已与倡导者和研究人员联合起来,制定保护性健康数据倡议,并提高他们在基因组数据集中的代表性。未来的研究应优先考虑黑人癌症患者的信息需求和担忧。应制定干预措施来支持他们的隐性工作,以此作为减少障碍和提高在精准医学中代表性的一种手段。