The Sulston Project Home PROJECT About Project Policy Delphi TOPICS Inclusion & Equity Payer Patent Stories Research Case Studies Publications Related Projects Team contact INCLUSION AND EQUITY Summary DNA testing plays a crucial role in identifying individuals who may have an increased risk of developing cancer due to specific genetic variants (DNA changes). However, the accuracy of these assessments depends on the availability of comprehensive DNA variant databases and links clinical outcomes. Unfortunately, underrepresented population groups face significant challenges in accessing hereditary cancer data resources. In the context of genetic testing for inherited risk of cancer, lack of inclusion in datasets means higher likelihood of getting a variant of uncertain significance (VUS), a test result that cannot be interpreted, or might be misinterpreted. Prioritizing equity and inclusion in hereditary cancer research and clinical practices is essential to reduce health disparities faced by underrepresented communities. Inclusion Image by Miles Peacock The Importance of Diversity in Genetic Data Although humans belong to a single race and are genetically similar, small genetic variations can provide valuable insights for reducing disparities in cancer burden and personalized medicine. In the context of genetic testing for inherited risk of cancer, lack of inclusion in datasets means higher likelihood of getting a test result than cannot be interpreted or might be misinterpreted. However, simply recruiting underrepresented populations for genomic studies is insufficient to ensure equitable data resources. To address these disparities, these communities must be included in hereditary cancer databases, and that means access to research studies and clinical care. The underrepresentation of diverse populations in genetic databases is influenced by systemic barriers, such as lack of culturally sensitive approaches, failure to alert patients to clinical options, insufficient genetic couseling, and insufficient funding for underrepresented groups. Recommendations for Inclusive Hereditary Cancer Genetic Risk Assessment We conducted interviews with domain experts to identify policy options for expanding and improving cancer variant data resources, We asked experts to identify ways to tackle challenges faced by underrepresented populations to address equity and inclusion. To promote equity in hereditary cancer variant commons, it is necessary to address trust issues, improve access to health services, empower community engagement, drive institutional changes, and ensure accountability. By implementing these recommendations, research institutions and policymakers can work towards a more inclusive and representative landscape, ultimately leading to improved healthcare outcomes for all populations. Key Recommendations Build Trust and Inclusion Take account of past abuses: Research institutions must address historical harms caused to distinct population groups to build trust and encourage participation in research. Engage communities in participatory research: Community members should be considered as partners rather than mere subjects, ensuring their involvement throughout the research process. Increase diversity among researchers: To foster inclusion, diverse professionals from underrepresented communities should be supported and hired within research institutions. This diversity will influence research questions and outcomes. Expand Access to Genetic Testing Increase access to health services: Limited access to health services impacts the inclusion of underrepresented populations in hereditary cancer data resources. Improve coverage and affordability of genetic testing: Affordability and insurance coverage of genetic testing need to be improved to ensure access for all individuals, regardless of financial means. Educate providers on the value of genetic testing: Healthcare providers should be educated on the importance of hereditary cancer testing referrals, and culturally appropriate genetic counseling services should be made available. Empowering Community Engagement Center communities in research: Community organizers should play a central role in research partnerships, helping identify important research topics and participating in advisory boards. Engage with communities on an ongoing basis: Engagement with communities should extend beyond recruiting research participants, focusing on ongoing involvement throughout the project life cycle. Prioritize partnerships: Funding should support engagement efforts and prioritize researchers with proven skills in community partnership building. Challenges & Opportunities Faced by Specific Populations While Hispanic/Latino, Black, and Indigenous populations face similar experiences with systemic barriers limiting access and inclusion in hereditary gene cancer resources, these underrepresented populations still vary amongst and within broad demographaic categories. While common themes of lack of access and mistrust toward research institutions amongst some groups may underlie Hispanic/Latino, Black, and Indigenous populations' experiences, policy options and recommendations must be understood in the context of distinctive histories and unique circumstances to be properly culturally appropriate. Several policy options for different communiteis emerged from our research. Hispanic/Latino Populations The Hispanic/Latino population is incredibly diverse, encompassing various sub-ethnicities within their countries of origin. However, they are often grouped into a broader category, disregarding the significant differences in cancer prevalence and hereditary cancer predisposition syndromes that depend on specific Hispanic/Latino sub-ethnicities and geographies. This lack of representation not only hinders our understanding of cancer prevalence and hereditary cancer predisposition among different Hispanic/Latino sub-ethnicities but also perpetuates disparities in access to genetic services and research. To bridge this gap, community engagement, partnerships with Hispanic/Latino communities, bilingual genetic counselors, and patient advocates are crucial for enhancing awareness, knowledge, and access to hereditary cancer services. Education is essential, but only a first step. Establishing partnerships with communities, employing patient advocates and community health workers, and hiring bilingual genetic counselors are crucial for sustainable change and reducing disparities in access to hereditary cancer services. Black and African American Populations African genomes exhibit a greater abundance of genetic variation compared to other continents.** However, individuals with predominantly African ancestry represent only a small fraction, approximately 2.5%, of participants in genome-wide association studies (GWAS) conducted worldwide.** Consequently, there are millions of genetic variants that remain uncharacterized, which significantly increases the chances of Black patients receiving a genetic testing result of a VUS. Similar to Hispanic/Latino populations, there is no one Black community or monolithic Black experience. In fact, studies have found diversity in cancer risk factors and genetics between U.S.-born, Caribbean-born, and African-born cancer patients. Consequently, scientists face the challenge of devising novel approaches to represent African genomes, all the while acknowledging the social context and diverse lived experiences of individuals who have been broadly categorized as "Black." To a certain extent, historical distrust stemming from past medical abuses, such as the Tuskegee Syphilis study, has influenced the lack of trust in medical services among Black populations. However, research shows that this distrust does not impact their willingness to seek medical care. Rather, studies have shown that Black individuals at risk for hereditary breast and ovarian cancer express a greater intention for genetic testing but are less likely to be referred.** Disparities in accessing genomic healthcare and underrepresentation of genetically diverse populations are linked. Genetic counseling is crucial for supporting Black patients in interpreting uncertain results, but racial disparities exist in access to these services. Limited insurance coverage hinders testing and delays breast and ovarian cancer diagnosis. Comprehensive efforts are needed to eliminate disparities and ensure equitable access to genetic services for all. To improve racial diversity in genetic research participation, community-based participatory research and inclusive community engagement strategies are essential. Establish partnerships with Historically Black Colleges and Universities (HBCUs) which have proven to serve as effective starting points for promoting racial health equity and diversity among Black communities. Effective programs emphasize community-based participatory research and engage a diverse range of Black communities to improve racial diversity in genomic research participation. Indigenous Populations Indigenous Peoples in the United States face significant health disparities stemming from historical and ongoing colonialism and racism. These disparities are further exacerbated by substantial funding shortfalls in healthcare for Indigenous communities, with a stark contrast in federal funding allocation compared to the general population. Indigenous Peoples receive only about $4,078 in federal funding per person, compared to $9,726 for the rest of the population. This unequal distribution translates to negative consequences, including delay or absence in access to medical services due to lack of culturally appropriate care. Furthermore, past research conducted about Indigenous Peoples without their active involvement has caused harm and perpetuated mistrust. To address this, Indigenous communities advocate for Indigenous Data Sovereignty, which grants them control over their own data collection and usage. Funding that supports Indigenous Data Sovereignty enables Tribal nations and Indigenous organizations to establish their own data commons, fostering partnerships with existing resources and initiatives. It would be naive to ignore the catch-22 that exists when tackling the issue of hereditary cancer in Indigenous populations: awareness of health disparities requires data, but data are limited due to lower engagement in research and clinical care. The remedies are to improve access to care and funding for research by, for, and with Indigenous peoples. Moreover, in order to effectively and ethically address hereditary cancer in Indigenous populations, an underlying belief and understanding must be established. Seeking tribal engagement is not enough, rather “[M]eaningfully engaging Indigenous communities in precision medicine must also entail restructuring research ecosystems from an anti-colonial standpoint.”** Addressing health disparities among Indigenous Peoples requires acknowledging historical and ongoing injustices, rectifying funding shortfalls, and ensuring active involvement and control over research processes. To address these issues, Indigenous communities advocate for Indigenous Data Sovereignty, granting them control over their own data collection and usage. This approach involves establishing their own data commons and fostering partnerships with existing resources and initiatives. Equitable access to healthcare funding and services is crucial for Indigenous communities to benefit from advancements in hereditary cancer genetic testing. CONCLUSION Addressing disparities in hereditary cancer genetic risk assessment requires a comprehensive understanding of the challenges faced by underrepresented populations. By adopting inclusive approaches, such as community engagement, partnerships, and prioritizing Indigenous Data Sovereignty, we can overcome barriers and build equitable hereditary cancer data resources. These efforts will enable more accurate risk assessments and personalized interventions, ultimately reducing disparities in cancer burden and improving healthcare outcomes for all populations.