Our study demonstrates the value of partnership with underrepresented communities in public health genomics research and provides a foundation for expanding awareness of patient advocacy efforts related to HBOC. When one thinks about breast cancer advocacy, typically the efforts are seen through a lens of social support. Many advocates address barriers related to social determinants of health by providing transportation to appointments, raising funds for housing, and offering healthy meals. Yet there are additional collective advantages of having advocacy groups embedded within research teams. Advocacy extends beyond clinical research settings into underrepresented communities. From the outset of this study, partners from underrepresented communities affected by cancer and specifically those that supported Black breast cancer patients were engaged. This aided in successfully representing Black women in our study population.

One contribution of our study is adding nuance to accounts of medical mistrust by unpacking patient concerns specific to genetic testing. Schumann et al. (2021) found that medical mistrust may articulate critique of the profit-making with patient data (Schumann et al. 2021). Many commentors reference the historical traumas from the infamous Tuskegee Syphilis study to provide critical context for medical mistrust. However, these types of framings are overly simplistic if they fail to account for many modern-day information technology concerns. We uncovered two major categories of concerns expressed about genetic testing, one reflecting a need for genetic counseling prior to testing and the other reflecting issues specific to genetic data use after testing. Although Black participants in this study raised concerns about genetic testing that are similar to those raised by non-Black participants, their data use concerns highlight an important need. We must increase access to genetic counseling services in parallel with more transparent disclosures and assurances about the use and handling of genetic data. These findings should be viewed in context with existing patient-led efforts to overcome systemic inequities in cancer care. Advocacy groups have become an ongoing source of emotional support and a bridge to activism and representation (Braun 2003). Black breast cancer patients have been partnering with advocates and researchers to educate communities, develop protective health data initiatives, and to improve the representativeness of genomic data for quite some time.

Our study shows that among Black participants who expressed concerns about genetic testing, nearly half of those concerns could be addressed by having access to genetic counseling services. Typically, genetic counseling helps patients make informed, autonomous choices about whether or not to undergo a genetic test, how to interpret the results, and how to weigh options related to the results. Medical decisions can be challenging, and genetic testing can increase the complexity of considerations. For example, advocates can share information about the Genetic Information Nondiscrimination Act of 2008 (GINA). GINA prevents health insurance plans from discriminating against patients with genetic susceptibility for diseases and disorders. Individuals considering genetic testing also need to know that GINA does not prevent discrimination in life, disability, and long-term care insurance, although some state laws may help to fill these gaps. In addition, advocates have developed extensive educational materials to describe the differences between direct-to-consumer (DTC) genetic testing not regulated by Clinical Laboratory Improvement Amendments (CLIA) (i.e., 23andme) and genetic testing provided by laboratories regulated by CLIA (i.e., Color Health). These educational materials are designed to help patients understand the differences in testing technologies, the limitations of the results, and the potential data risks related to the subsequent use of their genetic data. This work is significant for Black breast cancer patients, who may require CLIA-certified genetic testing because it employs comprehensive sequencing to identify more than the three Ashkenazi Jewish founder variants in BRCA1 and BRCA2 assessed by some DTC genetic tests. Also, relevant to patient concerns about data use, CLIA-certified laboratories are bound by patient privacy regulations and are not able to resell genetic testing data. Educational materials about these genetic testing options are accessible to supplement information from health care providers. This is an example of information that would be discussed as a part of genetic counseling and shared through advocacy networks.

Unfortunately, there is a clear shortage of health professionals specifically trained to provide genetic counseling (Hoskovec et al. 2018). Cragun and colleagues observed that only half of young Black women with breast cancer who were eligible were referred to accessed genetic services despite national practice guidelines (Cragun et al. 2015). Chapman-Davis and colleagues reported significant differences in referral patters for genetic counseling (Chapman-Davis et al. 2021) and Sheppard and colleagues reported increased patient satisfaction among Black women who received in-person support to discuss treatment options for breast cancer (Sheppard et al. 2010).These examples expose voids and unmet needs that advocacy groups fill for patients lacking access to genetic counseling. Without access to certified genetic counselors, many patients facing a hereditary cancer diagnosis seek information and decision support from trusted advocacy groups (Davis and Baca 2015). Many advocacy groups like My Breast Years Ahead disseminate educational materials on behalf of healthcare providers and direct vulnerable patients to additional resources. Advocacy groups also assist patients in improving their communicative competence with providers and their family members.

Our findings indicate that Black participants are interested in genetic testing, but they have reservations about the misuse and abuse of genetic data. The technologies and data structures, which support clinical genetic services must be evaluated and updated often. Recent news headlines describing the racial inequities built into clinical algorithms used for monitoring and surveillance can erode trust in clinical technologies. Scholars have noted, “…we are in need of new analytic tools, forged by critical scholars of science and technology, that draw into view the mutual constitution of social and scientific practice”(Reardon 2008). We must reimagine equity and justice in healthcare and recognize that systems architectures can engineer inequality (Benjamin 2016). We can reconnect with the efforts of geneticists, like Mary-Clare King, whose activism and social justice agenda bridged scientific and sociopolitical spheres (Nelson 2016). Such a re-imagining should take seriously concerns about the use of data to control or harm marginalized social groups. As noted above, one participant expressed concern about genocide, the deliberate killing of people related by geographic region, ethnicity, religion, national origin, or other physical or genetic characteristic. This may sound farfetched, but there were a number of genocidal acts in the twentieth century, including the Holocaust. The kinds of surveillance enabled by modern information technology increase the potential for misuse.

Communities, patients, and advocates need to be embedded within interdisciplinary teams that identify variants and build systems that use their data. Co-creation of knowledge and systems is required to build and sustain trust with diverse communities. Data trusts may facilitate the use of data across organizational boundaries and protect the interests of multiple stakeholders (Gomer and Simperl 2020) by empowering patients with control over their personal data (Raab 2021). The Light Collective is an advocacy group that works with breast cancer and other online patient peer support communities to develop models of collective data governance where patients control how their data are used, by whom, and for what purpose. Future research should offer opportunities for advocates to engage in research intended to govern the subsequent use of genetic information as well as offer adequate financial support and resources for existing educational outreach activities. We must recognize the invisible labor of breast cancer advocacy groups that currently serve the underserved and underrepresented communities.

Initiatives to engage underrepresented populations in cancer clinical trials and genomic research are growing (Ramirez and Thompson 2017; Saulsberry and Olopade 2021). Our study design emphasized the value of patient partnership throughout the study. The results add to the literature that intersects precision medicine and sociotechnical systems to advance medical care and reduce health disparities. Although physician referrals, patient education, and genetic counseling are all important, sociotechnical experiences should be considered as well. Therefore, a strength of this study is presenting a sociotechnical lens of genetic testing concerns through patient narratives. Patient narratives allow participants to share their lived experiences and personal perspectives to enrich our understanding of barriers to genetic testing. At the same time, our study was limited in scope and used a small purposive sample. Future research should be conducted with a larger, less homogenous sample to verify the types of concerns, document the frequency at which they are present and generalizable in the population, and identify discordance within and between groups.