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.
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.
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.
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.