Big advocacy, little recognition: the hidden work of Black patients in precision medicine

Abstract

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.

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

“…Intentional and structured collaboration between genetics and nongenetics providers can be effective at bridging this gap (Morrow et al., 2023; Truong et al., 2021). Lastly, genetics studies have had suboptimal inclusion of nonwhite populations which contributes to difficulty interpreting the genetic findings in diverse populations without the diverse background population data to serve as a control (Appelbaum et al., 2022; Fine et al., 2005; Gerido et al., 2023; Glenn et al., 2012).…”

Advances in Precision Medicine Approaches for Colorectal Cancer: From Molecular Profiling to Targeted Therapies

“…Ethical and regulatory implications present considerable challenges in the application of precision medicine to colorectal cancer. While precision medicine holds tremendous promise in improving patient care and outcomes, it also raises complex ethical dilemmas and requires careful regulatory oversight to ensure the responsible and equitable use of advanced technologies and therapies …”

“…While precision medicine holds tremendous promise in improving patient care and outcomes, it also raises complex ethical dilemmas and requires careful regulatory oversight to ensure the responsible and equitable use of advanced technologies and therapies. 184 One of the primary ethical challenges revolves around equitable access to precision medicine. As new targeted therapies and genetic testing technologies become available, there is a risk of creating disparities in access to these treatments.…”