medRxivGenetic & Genomic MedicinePreprint
Socioeconomic and Clinical Determinants Driving Access to BRCA Genetic Testing in Cancer : A Case-Control Study Using Observational Electronic Health Records Across Multiple Sites
Qiang Yang, Chengrong Wang, Charite Nicolette RickeriD, Sandra G. SutheriD, Qianqian SongiD, Muhammad Salim KhaniD, Yi GuoiD, Thomas J. GeorgeiD, Mattia ProsperiiD, Rui YiniD
Abstract
ImportanceBRCA genetic testing is critical for cancer risk assessment, treatment and personalization, yet substantial underutilization persists. Socioeconomic and clinical factors may strongly influence testing uptake; therefore, identifying the potential drivers to BRCA testing and treatment is essential for addressing gaps in access, increasing retention into care, and improving cancer outcomes. ObjectiveTo quantify the putatively causal effects of SDoH on BRCA genetic testing among individuals with breast, ovarian, pancreatic, and prostate cancers and to develop a predictive model to identify patients at risk for underuse of testing. Design, Setting, and ParticipantsThis observational case-control study used data from a large multistate clinical research data network covering southern US (2012-2023). The network contained records of more than 26 million individuals and was linked with ZIP code-level SDoH variables derived from national socioeconomic datasets. Adults diagnosed with breast, ovarian, pancreatic, or prostate cancer were eligible for cases (received BRCA testing) or controls (did not receive BRCA testing, matched by cancer diagnosis). ExposureSDoH categories, including economic conditions, education, healthcare access, neighborhood conditions, and social connectedness. Main Outcomes and MeasuresThe primary outcome was receipt of BRCA genetic testing after cancer diagnosis. ResultsAmong 3,279 people diagnosed with cancer, 748 received BRCA testing and 2,531 served as controls. Study populations mean [SD] age was 66.8 [15.7] years; 1,758 were women [53.6%], 2,238 [69.6%] were White and 616 [18.8%] were Black or African American. Breast (1,420 [42.8%]) and prostate (1,342 [40.9%]) cancers were the most common diagnoses, followed by pancreatic (242 [7.4%]), ovarian (238 [7.2%]), and multiple cancers (55 [1.7%]). Upon adjusting for potential confounding, higher educational attainment (odds ratio [OR], 1.19), public-sector employment (OR, 1.42), neighborhood safety (OR, 1.28), and social participation (OR, 1.72) showed an increased likelihood of undergoing BRCA testing, whereas economic instability, including housing cost burden and reliance on public insurance, had an effect of reduced testing. A random forest classifier demonstrated good discriminative performance (AUROC, 0.776) to predict cancer patients who were likely to take BRCA testing, where nativity, language, and residential stability ranked among the most influential social determinants according to SHapley Additive exPlanations (SHAP) analysis. Conclusions and RelevanceIn this observational case-control study, SDoHs were strongly associated with receipt of BRCA genetic testing among people with cancer. These findings suggest that disparities in genetic testing may reflect structural and social barriers rather than differences in clinical eligibility alone. Efforts to improve equitable access to genetic testing may benefit from integrating social-context information into clinical workflows and targeting outreach or navigation strategies toward socially disadvantaged populations. Key PointsO_ST_ABSQuestionC_ST_ABSDo socioeconomic and clinical circumstances contribute to care access gaps to BRCA genetic testing among people with breast, ovarian, prostate, and pancreatic cancers? FindingsIn a case-control study of 3,279 adults with cancer from a large multi-state US clinical research data network, multiple social determinants of health, including economic conditions, education, healthcare access, neighborhood conditions, and social connectedness, were identified as key determinants of BRCA genetic testing uptake, with variation across age and sex groups. MeaningImproving equal access to BRCA genetic testing may require interventions that address financial barriers and strengthen social, and community supports that influence engagement with genetic services.
- organism: human
- assay: electronic health records
- research focus: benchmarking
- approach: statistical model
- Citations
- 0
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial
Bethany Torr, Christopher Iain Jones, … Clare Turnbull·British Journal of CancerPeer-reviewed·Sep 30, 2024
- Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients
Angela George, Daniel Riddell, … Mainstreaming Cancer Genetics (MCG) Programme·bioRxiv·Mar 16, 2016
- A cost analysis of a cancer genetic service model in the UK
Ingrid Slade, Helen Hanson, … MCG Programme·Journal of Community GeneticsPeer-reviewed·Feb 27, 2016
- Genetic testing in cancer: a systematic review of patient reported measures
Kelsie Raspin, Daisy Nowakowski, … Jessica K. Roydhouse·medRxiv·Jul 7, 2025
- Routine germline genetic testing in 3552 unselected NHS breast cancer patients: Evidence informing testing criteria and implementation of a 'BRCA-DIRECT' mainstreaming pathway
Bethany Torr, Lea Mansour, … Clare Turnbull·npj Breast CancerPeer-reviewed·Jul 9, 2026
- The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients
Jarbas Maciel de Oliveira, Nuria Bengala Zurro, … João Bosco Oliveira·European Journal of Human GeneticsPeer-reviewed·May 9, 2022