Barriers and Facilitators to Genetic Education, Risk Assessment, and Testing: Considerations on Advancing Equitable Genetics Care

Genetic education, risk assessment, and testing can save lives by facilitating the identification of pathogenic germline variants (PGVs) in cancer-susceptibility genes. PGVs are identified in approximately 13% of cancer diagnoses across all tumor types in the United States.¹ Although PGVs in genes associated with cancer predisposition occur in individuals of all racial/ethnic backgrounds, 67% of cancer-related genome-wide association studies focus on European populations.²

To advance equitable genetics care, we must understand the barriers and facilitators (Figure 1) to accessing genetics evaluation among historically marginalized racial/ethnic populations. This commentary focuses primarily on Black and Latino/a/x populations, however, similar issues regarding access to cancer genetics care and prevention exist in Asian and American Indian/Alaskan Native communities, for which data also are limited. We describe individual-, provider-, and system-level barriers to equitable genetics care and identify potential strategies to address barriers.

Figure 1.

Barriers and facilitators to genetic education, risk assessment, and testing on the individual, provider, and system levels.

Individual-Level Barriers

Knowledge and awareness about genetic testing tends to be low in the general population, particularly among Black, Latino/a/x, Asian, and Native American communities.^3,4 Many barriers to genetics care are shared among historically marginalized racial/ethnic communities (Figure 1).^3-5 Barriers can be amplified for those receiving care at federally qualified health care centers (FQHCs). A study comparing cancer genetics referrals in a tertiary care center and a FQHC serving predominantly Black and Latino/a/x patients showed that even when family history is asked, FQHC patients have higher rates of incomplete family history information, which can impact referral, risk assessment, and genetic testing criteria.⁶ Among Latino/a/x communities, additional barriers include concerns regarding immigration status, utilization of results for deportation, and limited English proficiency impeding patient-provider communication.⁷ Black, Latino/a/x, and Native American communities also report medical mistrust and concerns with confidentiality and use of testing results.^3-5,7

Provider-Level Barriers

There is an increasing incidence of early onset colorectal cancer (CRC), with up to 20% of patients who have PGVs in a cancer-susceptibility gene.^8,9 Although CRC and early onset CRC incidence is highest among Black populations, referral rates for genetics evaluation are lower among Black (16.9%) and Latino/a/x (10.9%) CRC patients compared with White (21.2%) patients.¹⁰ Among individuals with early onset CRC, genetic counseling referral rates also are lower among Black patients (50.0%) compared with White (54.1%) or Latino/a/x (65.9%) patients.¹¹ Black and Latino/a/x patients who desire testing report a lack of provider discussion regarding genetics, a finding most pronounced in Spanish-speaking Latino/a/x patients.¹² Large laboratory cohorts have shown that less than 20% of patients undergoing genetic testing are Black, Latino/a/x, Asian, or Native American.^13,14 In one study, White patients were more likely referred for genetic testing because of a family history of cancer compared with Black, Latino/a/x, and Asian patients, who were more likely referred based on a personal cancer history, and Black and Latino/a/x patients had more advanced disease when genetic testing was completed.¹⁵ Overall, these findings suggest that referral patterns may limit the ability of marginalized racial/ethnic populations to benefit from cancer prevention and detection strategies.

Primary care providers are uniquely positioned to refer patients to genetic services. However, primary care providers report barriers including lack of genetic knowledge, limited access to specialty providers, and insufficient time for discussion.¹⁶ Additional barriers may include implicit bias, a lack of systems to ensure referral of at-risk patients, and poor patient-provider communication. Latino/a/x individuals note that speaking Spanish and being unfamiliar with medical terminology may influence provider referral patterns, owing to an assumption of poor health literacy.¹⁷

System-Level Barriers

Although indications for testing have broadened and cost has been reduced significantly with next-generation sequencing and expansion of commercial genetic testing laboratories, the perception of many providers and patients that germline sequencing is cost-prohibitive and not covered by insurance may hinder referral.^3,4,11,16 In addition, although the patient portion of the cost of testing can be less than $300.00, this cost and/or payer reimbursement variability still may be a barrier.

Although the genetic counseling workforce is increasing, availability varies by location, with most counselors employed in urban areas and only one counselor per 71,842 individuals nationwide, resulting in limited access to genetics care.¹⁸ Genetic counseling is a covered benefit under Medicare; however, genetic counselors are not recognized as independent providers by the Centers for Medicare and Medicaid Services. Thus, genetic counselors are unable to be directly reimbursed for their services. This leaves cancer genetics care largely limited to cancer centers, which can absorb the costs required to integrate genetic counselors into comprehensive clinical care. Given that individuals from historically marginalized populations are more likely to be uninsured or underinsured, access to such centers may be limited.¹⁹

Potential Facilitators

At the patient level, Black, Latino/a/x, Asian, and Native American individuals have reported that health benefits, including early detection and risk-reduction strategies, are motivators to pursue genetic testing.^3-5,7 Additional facilitators include decreased uncertainty/anxiety, knowledge acquisition, familial benefits regarding cancer prevention strategies, and societal impact.^3,5

At the provider level, continuing medical education regarding the importance of genetic assessment can help clinicians identify eligible patients and feel more comfortable discussing counseling and testing. Several professional societies have established guidelines or educational initiatives regarding genetic education and testing. The development of culturally/linguistically sensitive patient-friendly materials using simple language/graphics also can serve as facilitators.⁷ The use of risk-assessment tools that facilitate decision support and automated referrals based on personal/family history offer promise, but may be hampered by incomplete family history information. To address the growing demand for genetic counselors, in the past decade additional accredited US-based training programs have increased from 31 to 55. In addition, the Warren Alpert Foundation awarded Penn Medicine a 9.5 million dollar grant to increase genetic counselor workforce diversity. Because health care providers from under-represented racial/ethnic backgrounds are more likely to work in under-resourced communities, these efforts have the potential to provide increased support for genetics care for diverse populations. Racially/ethnically concordant care also may impact how patients receive, process, and accept genetics information. At the system level, easier access to genetics services within the community setting and extended appointment availability can improve the use of genetic testing.³ Dissemination of genetics care via preferred community forums can build trust and promote health information sharing. Although geographic access barriers limit the scalability of traditional in-person genetic services, remote methodologies offer promise and can be leveraged to increase access. However, utilization may be impacted by barriers such as internet access and digital literacy.

Policy is crucial to the provision of equitable genetics care, including expanded Medicare coverage and reimbursement for genetic counseling and testing services. The H.R.2144 Access to Genetic Counselor Services Act of 2021 is proposed bipartisan legislation for Centers for Medicare and Medicaid Services to recognize genetic counselors as health care providers and obtain reimbursement for services. Passing of this legislation is imperative because genetic counseling is associated with improved understanding of genetic test results and cancer risks. In addition, although most Medicaid programs cover genetic testing, eligibility and coverage is variable and inconsistent.

Implementation and Future Directions

Disparities in the use of genetic testing could be addressed with the implementation of sustainable and scalable approaches. Although not exhaustive, the following research studies in progress can improve the identification and management of patients and families with genetic susceptibility to cancer.

The Racial/ethnic Equity in GENetic Education, Risk Assessment, and TEsting (REGENERATE) study assesses individual-level barriers and facilitators to genetics care to develop a culturally/linguistically competent pancreatic cancer online genetic education and testing system. The Increasing Access to Genetic Testing in Underserved Patients Using a Multilingual Conversational Agent Study will develop and test an animated computer character to deliver personalized pretest genetic education in English and Spanish.

On the provider and system level, the MIchigan Genetic Hereditary cancer Testing (MIGHT) Study engages community oncology practices, public health agencies, and payers by implementing a web-based family health history survey to identify patients meeting clinical criteria for genetic risk assessment and randomize them to interventions to increase knowledge and testing.

On the community level, one aim of the Community Collaboration to Advance Racial/ethnic Equity in CRC Screening (CARES) study is developing a risk-assessment tool to facilitate systematic identification of patients at average, moderate, and high risk for CRC in FQHCs.

Additional initiatives working toward advancing cancer genetics health care equity include integration of systematic risk assessment into the electronic health care system, remote online genetic education systems/applications and testing, system partnerships between genetics providers and nongenetics providers, and imbedding genetic counselors within networks that include FQHCs.

Expanding Racial/Ethnic Representation in Genomic Databases

The American Society of Human Genetics emphasizes genetic ancestry instead of race. Race is not a biological attribute, but a social and political construct, with literature inconsistently desegregating ancestry, which is based on a person’s biological descendants and genetic relationships.²⁰ Unfortunately, less than 1% of genome-wide association studies for gastrointestinal disease/cancer focus on Black, Latino/a/x, or Native American populations, and ancestry information across these studies is limited.² Individuals from historically marginalized racial/ethnic groups often are from heterogenous subpopulations and ancestral origins but are grouped within the same racial/ethnic category in many research studies.

This lack of diversity in genomic databases limits the understanding of the effect of genetic variants on disease and how this information can be used for cancer risk assessment and prevention.^2,21 This limitation is exemplified in numerous risk-prediction calculators, which were designed using genomic data from predominantly European populations. Polygenic risk scores use genomic information to stratify risk for disease.²⁰ When polygenic risk scores incorporate ancestry information, the predictive value improves, particularly across diverse populations.²² To advance precision medicine efforts, the National Institutes of Health launched the All of Us Research Program, and as part of the Cancer Moonshot Initiative the National Institutes of Health/National Cancer Institute established the Participant Engagement and Cancer Genomic Sequencing Network.^23,24 These initiatives focus on addressing gaps in genomic and genetic data by funding academic, health care, and community organizations working to engage historically marginalized groups.^23,24

Scientific advances in cancer genetics have outpaced our ability to implement these advances equitably into patient care. Multidisciplinary efforts engaging patients, clinicians, public health agencies, payers, and implementation scientists are critical for bridging these gaps. The goal of precision medicine is to deliver the right care to the right patient. However, until recently, race/ethnicity, rather than ancestry, has been used as a surrogate marker for unmeasured factors that influence an individual’s cancer risks.²¹ Quantifying the impacts of specific genetic and environmental factors on disease pathogenesis provides a pathway for effective and equitable cancer treatment and prevention.