Despite broader guidelines and life-saving targeted therapies, real-world evidence reveals continued gaps and inequities in BRCA testing, raising urgent questions about who has access to precision cancer treatments and why.
Study: Trends in BRCA testing patterns in breast cancer in the United States: Challenges and opportunities for improvement. Image credit: Olena Yakobchuk/Shutterstock.com
recent Frontiers of oncology This study summarizes the actual patterns of BRCA testing among breast cancer patients in the United States, identifies misconceptions and barriers to widespread testing, and highlights areas for further research and intervention.
Genetic risk factors and testing approaches in breast cancer
BRCA1 and BRCA2 are genes that play an important role in repairing damaged DNA within cells. Mutations in these genes disrupt repair processes and increase the risk of cells developing cancer. Mutations in BRCA1 and BRCA2 can be inherited from parents (germline, gBRCAm). Individuals with inherited BRCA1 or BRCA2 mutations have a significantly higher lifetime risk of developing breast cancer compared to the general population. Understanding the role of these genetic variations is essential for assessing breast cancer risk and guiding clinical decisions.
gBRCAm is associated with early breast cancer onset, aggressive tumor characteristics, and triple-negative breast cancer (TNBC), which has a worse outcome than other subtypes. BRCA1 mutations often cause TNBC, whereas BRCA2 mutations are more commonly associated with hormone receptor positive (HR+)/human epidermal growth factor receptor 2 (HER2) negative disease. Despite the association with earlier diagnosis, the majority of gBRCAm breast cancer patients in the United States are older than 50 years and have HR+/HER2-negative disease, highlighting the need for better identification in this group.
Genetic testing for high-risk breast cancer genes, including gBRCAm, is recommended for patients diagnosed at age 50 or younger or at any age with additional risk factors such as family history, tumor characteristics, or ancestry. Guidelines have expanded in recent years, with ASCO-SSO recommending testing for all patients diagnosed under age 65 and older patients with risk factors.. NCCN’s guidance is more nuanced, recommending testing or consideration based on age and clinical characteristics to improve detection and management.
Although broader testing standards and lower costs are increasing access, many people remain untested, and the actual uptake of genetic testing continues to lag despite its benefits for prevention and personalized care.
Review the rationale and literature synthesis
To better understand barriers to genetic testing for breast cancer, researchers conducted a targeted literature review to synthesize evidence regarding current testing patterns and challenges to widespread implementation in the United States. Relevant articles were identified from Embase, MEDLINE, MEDLINE In Progress, and PsycINFO via OvidSP® using both free text and MeSH terms.
This review includes real-world studies based in the United States that focused on breast cancer patients eligible for BRCA testing and health care professionals who participated in BRCA testing decisions. Studies that focused on people who were eligible for BRCA testing but had not been diagnosed with breast cancer were excluded.
Eligible studies reported on testing patterns, including the proportion of patients who received or refused BRCA testing, timing of testing, and misconceptions and barriers to BRCA testing for treatment decisions. To ensure the inclusion of recent and robust evidence, studies published before 2014 or with fewer than 450 patients were excluded.
Studies were screened in two stages: title and abstract, followed by a full-text review applying PICOS criteria (population, intervention, comparison, results, and study design).
Real-world trends and determinants of uptake of BRCA testing in breast cancer
Of the 2,003 records screened, 35 publications representing 32 unique studies met eligibility. 28 focuses on real-world BRCA test patterns. Seven unique studies (reported in nine publications) investigated beliefs and attitudes; Eleven unique studies (reported in 13 publications) identified barriers to testing among patients, healthcare providers, and payers.
BRCA testing rates for breast cancer ranged from 14% to 87% and increased over time. Study duration, patient criteria, and reporting methods varied. Based on a survey comparison between 2018 and 2023, it appears that routine ordering of BRCA tests by providers is increasing.
BRCA testing rates vary by breast cancer subtype. In advanced or metastatic cases, higher testing rates were seen in TNBC patients compared to HR+/HER2-negative breast cancer patients. In contrast, for early-stage breast cancer, testing rates for TNBC could be lower than for HR+/HER2-negative cases. Over time, screening rates for early HR+/HER2-negative breast cancer have increased significantly.
BRCA testing was most common among high-risk patients, especially as eligibility criteria expanded. Testing rates were higher for those with early-stage disease, younger people, private insurance, and academic or large clinics. In contrast, this value was lower for black patients, patients in smaller practices, or providers with fewer patients or years of practice.
Surgeons most commonly ordered BRCA testing, but medical oncologists and genetic counselors were also involved. As surgeons gained experience, their confidence in genetic counseling increased. At academic centers, genetic counselors ordered testing more frequently. Although some evidence suggests that access to genetic counseling does not necessarily change order frequency, other findings indicate that genetic counseling may improve referrals and uptake, highlighting a combined effect.
Among patients with early-stage breast cancer treated surgically, 14% to 78% underwent preoperative BRCA testing. Previous testing was more common among younger, more educated stage II or TNBC patients and those involved in surgical decisions. Most tests were performed within 3 months of diagnosis, and testing rates increased over time.
Negative attitudes and mistrust about the benefits of BRCA testing decreased testing, while positive attitudes increased testing. Cost was often a barrier, and black patients reported more negative attitudes than white patients. Patients sought testing for the benefit of treatment and their families, but faced barriers such as cost, mental health, insurance concerns, impact on family members, and lack of knowledge. Some patients reported that clinicians withheld testing based on perceived risk, subtype, insurance status, or ethnicity, even though guidelines do not limit testing by race or ethnicity.
Healthcare workers faced logistical and cost barriers, and payer controls such as prior authorization reduced motivation to test. Providers who were open to innovation or had access to counseling ordered more tests, while providers who accepted more uninsured patients ordered fewer tests.
Key drivers for increased BRCA testing include updated guidelines, lower costs, collaboration with genetic counselors, and increased patient awareness. Persistent barriers include reimbursement issues, limited knowledge sharing, lack of counseling resources, patient concerns, and slow response times. Payers cited overutilization in low-risk patients, incomplete documentation, unclear guidelines, limited utility of treatment options, and lack of expertise as barriers.
Limitations and future opportunities
Although BRCA testing rates in breast cancer are increasing, significant disparities and barriers remain. This review highlights gaps in the evidence, including outdated data. Most included studies had data collection periods before 2020, limited research on multigene panels and cascade testing, and poor payer perspectives, all exacerbated by diverse study designs. To ensure current practice is reflected, future research should address these limitations and consider the impact of evolving guidelines and new treatments, including the role of PARP inhibitors such as olaparib in shaping test acceptance.
Increasing the uptake of BRCA testing will require targeted education of health care providers, payers, and patients, particularly in communities and among Black patients. Innovative care models such as telemedicine, expanded access to genetic counseling, and clearer information about cost and coverage may enhance BRCA testing. Addressing these challenges is critical to fair and timely BRCA testing, which ultimately improves patient outcomes.
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This study was funded by Merck Sharp & Dohme LLC, a company involved in the development of BRCA-targeted therapies, and AstraZeneca, and employees of the funders participated in study design, data interpretation, and manuscript preparation.
