Catharine Wang

BackgroundNational guidelines recommend genetic testing for individuals at risk for hereditary cancer syndromes, but access to cancer genetic services (CGS) remains limited by persistent barriers. While implementation efforts have focused on oncology settings, primary care represents a critical entry point for expanding access, particularly among populations historically underserved in genomics. However, gaps exist in the development and evaluation of evidence-based CGS delivery models for primary care. Scalable approaches that address disparities while efficiently leveraging existing resources, including limited access to genetic counselors, are needed.ObjectiveTo describe the design and methodology of the TestMiGenes study evaluating two CGS delivery models in primary care to facilitate identification of eligible patients and connect them to genetic services in a Federally Qualified Health Center (FQHC).MethodsThe study employed a hybrid implementation-effectiveness design across four primary care clinics affiliated with a Chicago FQHC and academic medical center. All clinics adopted systematic electronic hereditary cancer risk assessment (HCRA) to identify patients eligible for genetic testing. Two clinics implemented an enhanced standard of care referral model with patient navigation (SOC+); two implemented a mainstreaming genetic testing (MGT) model, where primary care providers offered testing directly. The EPIS framework guided the design and evaluation. Mixed methods analysis assessed implementation outcomes (e.g., feasibility, adaptations) and effectiveness outcomes (e.g., testing uptake, time-to-test).ConclusionTestMiGenes offers a pragmatic, contextually informed approach for implementing CGS in primary care settings. Findings will inform strategies for implementing delivery models that scale access to genomic medicine among high-risk patients in primary care.

Introduction: Genetic testing (GT) for hereditary cancer risk enables early detection and prevention, yet many individuals who could benefit do not pursue testing. Limited genetic familiarity and lower genetic self-efficacy may act as barriers. This study examined relationships among patient-reported genetic familiarity, genetic self-efficacy, sociodemographic characteristics, and interest in GT. Methods: Data were drawn from the Early Detection of Genetic Risk (EDGE) baseline survey (n = 2,319), distributed to a random sample of patients aged ≥25 years from participating primary care clinics in Washington, MT, and WY. Patients were contacted via email and mailed letter in January 2021, prior to implementation of the EDGE intervention. Bivariate logistic regression assessed associations between sociodemographic factors and genetic familiarity and self-efficacy. Multivariable logistic regression examined independent associations between sociodemographic factors, genetic familiarity, genetic self-efficacy, and interest in GT. Results: In multivariable analyses, higher genetic familiarity was strongly associated with interest in GT (adjusted odds ratio [aOR] = 2.67; 95% CI: 1.47–4.86). Higher income (aOR = 2.43; 95% CI: 1.43–4.13) and female sex compared with male (aOR = 1.80; 95% CI: 1.16–2.40) were also positively associated with interest in GT. Participants aged over 65 years were significantly less likely to express interest in GT (aOR = 0.28; 95% CI: 0.13–0.60). Conclusion: The strong association between genetic familiarity and interest in GT suggests that increasing basic genetic knowledge may be an effective starting point for educational interventions aimed at improving testing uptake. Understanding drivers of interest in GT can inform targeted strategies to enhance hereditary cancer prevention and early detection efforts.

PURPOSE: Many patients with prostate cancer are eligible for germline genetic testing, but it is underutilized in clinical practice. We aimed to explore perceptions of and decision making about undergoing genetic testing among patients with prostate cancer. METHODS: This qualitative interview study enrolled patients diagnosed with prostate cancer who had been treated at a safety-net hospital and had received a referral for genetic testing in the previous 12 months. Participants completed an interview in their native language via telephone. Data on genetic testing use were captured in interviews and via the medical record. A thematic analysis explored factors related to decision making in concert with genetic testing use. RESULTS: Thirty-three English-speaking (n = 25), Spanish-speaking (n = 6), and Haitian Creole–speaking (n = 2) patients completed interviews. In interviews, 19 reported completing genetic testing, 10 reported no testing, and four were unsure. Medical records indicated 24 had undergone genetic testing—including six participants whose self-reported testing status was no or unsure. Four main themes identified factors that influenced participant-reported genetic testing decisions: gendered perceptions of value to family, personal utility of genetic results, preferences for information, and relative priority of testing. Many participants did not view testing as a priority and delayed or declined testing because of cancer treatment burden. CONCLUSION: These results suggest opportunities to improve communication about testing purpose, value, and utility in those affected by cancer. Conversations about the utility of both the individual benefit of obtaining genetic testing for those affected by prostate cancer and implications for familial cascade testing are warranted.

Germline genetic testing has been increasingly conducted for treatment implications in patients with prostate cancer due to the expansion of testing eligibility. Understanding patients' comprehension of genetic results is crucial for establishing effective result disclosure practices. This importance has grown due to the increasing prevalence of negative genetic results being conveyed via electronic communication and by providers without a genetics specialization. This study explores patients with prostate cancer's perceptions of genetic results communication. We analyzed 24 qualitative, semi‐structured interviews with patients with prostate cancer at an urban safety‐net hospital who had genetic results documented in their medical records. Interview questions focused on patient experiences with genetic referrals, genetic counseling, and genetic result disclosure. Audio recordings were professionally transcribed and analyzed by the study team utilizing an inductive thematic approach to generate themes from recurring codes. Of those who participated, 18 were interviewed in English, 5 in Spanish, and 1 in Haitian Creole. No participants reported having a pathogenic variant identified with genetic testing. Study participants identified a number of gaps in results communication which led to misconceptions regarding hereditary cancer risk. Three themes were generated: (1) Patients desired clear communication about the next steps after genetic testing, (2) Patients commonly experienced cognitive dissonance with negative genetic results given personal and family history of cancer, and (3) Patients felt reassurance from negative genetic results. This research suggests that maintaining conversations between patients and healthcare providers alongside the delivery of negative results assists in patient comprehension. Additionally, it is essential to evaluate the accessibility and appropriateness of notes and results sent to patients. Ultimately, understanding communication barriers in genetic results return is imperative in order to provide high‐quality genetic care.

Genetic research presents numerous ethical, legal, and social implications (ELSI), particularly when the research involves collaborations between investigators in high and low-income countries. Some ELSI issues are universal, and others are specific to context and culture. This study investigates perceptions of genetic research in Nicaragua, Central America, where local and U.S. based researchers have collaborated for over a decade. A total of 43 residents from northwestern Nicaragua, a region with high mortality rates attributed to chronic kidney disease of non-traditional causes (CKDnt), were interviewed, including research participants in ongoing studies (n = 36), health professionals (n = 3), labor leaders (n = 2), and family members of research participants (n = 2). Questions focused on informed consent, data-sharing, and post-study expectations. Audio recordings of interviews conducted in Spanish were transcribed and translated into English. English transcripts were coded and analyzed using NVivo 12 software. The lack of familiarity with terms in the consent form presented a barrier to participant comprehension of key elements of the genetic research study, raising concerns about the validity of informed consent. Research participants often viewed their participation as access to health care. Health professionals emphasized the importance of long-term partnerships between foreign-based researchers and local health institutions. Leaders and family members recommended that they be informed of research studies and allowed the opportunity to consent, as they felt the benefits and risks of research also apply to them. Our findings identified genetic research practices to be improved upon in order to be more responsive to the contextual realities of collaborators living in low-resource settings.

Background: Public health calls to ensure equity in genomics and precision medicine necessitate a closer examination of how these efforts might differentially affect access to genetic services across demographic subgroups. This study set out to examine racial/ethnic disparities along the cancer genetic service delivery continuum. Methods: Retrospective data are drawn from 15 clinical sites across 6 U.S. States. Individuals who screened at-risk for hereditary cancer were: (i) referred/scheduled to see a genetic counselor (referral workflow), or (ii) offered genetic testing at the point-of-care (POC testing workflow). Logistic regression analyses evaluated the associations between race/ethnicity and several outcomes including appointment scheduling, genetic counseling, and genetic testing, controlling for demographics, clinical factors, and county-level covariates. Results: A total of 14,527 patients were identified at-risk. Genetic testing uptake was significantly higher at POC sites than referral sites (34% POC vs. 11% referral, P < 0.001). Race/ethnicity was significantly associated with testing uptake among all sites, with non-Hispanic Blacks having lower odds of testing compared with non-Hispanic Whites [aOR = 0.84; 95% confidence interval (CI), 0.71–1.00; P = 0.049]. Moreover, this disparity was observed at referral sites, but not POC sites. Among patients scheduled, non-Hispanic Blacks had lower odds of counseling (aOR = 0.28; 95% CI, 0.17–0.47; P < 0.001). Conclusions: Findings suggest that factors influencing genetic counseling show rates may be driving disparities in genetic testing. Impact: Strategies to reduce barriers to seeing a genetic counselor, including modifications to clinical workflow, may help mitigate racial/ethnic disparities in genetic testing.

Cancer is a significant burden, particularly to individuals of low socioeconomic status (SES). Genetic testing can provide information about an individual’s risk of developing cancer and guide future screening and preventative services. However, there are significant financial barriers, particularly for individuals of low SES. This study used the Early Detection of Genetic Risk (EDGE) Study’s patient baseline survey (n = 2329) to evaluate the relationship between socioeconomic status and interest in pursuing hereditary cancer genetic testing. Analysis was completed for two interest outcomes—overall interest in genetic testing and interest in genetic testing if the test were free or low cost. Many demographic and SES variables were predictors for interest in genetic testing, including education, income, and MacArthur Subjective Social Scale (SSS). After controlling for the healthcare system, age, and gender, having a higher education level and a higher household income were associated with greater general interest. Lower SSS was associated with greater interest in genetic testing if the test was free or low cost. If genetic testing is the future of preventative medicine, more work needs to be performed to make this option accessible to low-SES groups and to ensure that those services are used by the most underserved populations.