Despite broader guidelines and life-saving targeted therapies, real-world evidence reveals persistent gaps and inequities in BRCA testing, raising urgent questions about who gets access to precision cancer care and why.
Study: BRCA testing patterns in breast cancer over time in the United States: challenges and opportunities for improvement. Image credit: Olena Yakobchuk/Shutterstock.com
A recent Frontiers in Oncology study summarizes real-world patterns of BRCA testing among breast cancer patients in the U.S., identifies misconceptions and barriers to testing uptake, and highlights areas requiring further research and intervention.
Genetic risk factors and testing approaches in breast cancer
BRCA1 and BRCA2 are genes that play a crucial role in repairing damaged DNA within cells. When mutations occur in these genes, the repair process is disrupted, increasing the risk that cells will develop into cancer. Mutations in BRCA1 and BRCA2 can be inherited from a parent (germline, gBRCAm). Individuals with inherited BRCA1 or BRCA2 mutations face a substantially higher lifetime risk of developing breast cancer compared to the general population. Understanding the role of these gene mutations is essential for assessing breast cancer risk and guiding clinical decisions.
gBRCAm are linked to earlier breast cancer onset, aggressive tumor characteristics, and triple-negative breast cancer (TNBC), which has poorer outcomes than other subtypes. BRCA1 mutations often lead to TNBC, while BRCA2 mutations are more commonly associated with hormone receptor-positive (HR+)/human epidermal growth factor receptor 2 (HER2)-negative disease. Despite the association with early diagnosis, many US patients with gBRCAm breast cancer are over 50 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, has been recommended for patients diagnosed at age 50 or younger, or at any age with additional risk factors such as family history, tumor features, or ancestry. Guidelines have expanded in recent years, with ASCO-SSO recommending testing for all patients diagnosed at age 65 or younger, and for older patients with risk factors. NCCN guidance is more nuanced and recommends testing or consideration based on age and clinical characteristics to improve detection and management.
While broader testing criteria and lower costs have increased access, many eligible individuals remain untested, and real-world uptake of genetic testing continues to lag despite its benefits for prevention and personalized care.
Review rationale and literature synthesis
To better understand barriers to genetic testing for breast cancer, researchers conducted a targeted literature review to synthesize evidence on current testing patterns and challenges to broader implementation in the US. Relevant articles were identified from Embase, MEDLINE, MEDLINE In Progress, and PsycINFO via OvidSP®, using both free-text and MeSH terms.
The current review included US-based real-world studies involving patients with breast cancer eligible for BRCA testing and healthcare professionals participating in BRCA testing decisions. Studies focusing on individuals eligible for BRCA testing but not diagnosed with breast cancer were excluded.
Eligible studies reported on testing patterns, including the proportion of patients who received or declined BRCA testing, the timing of testing, and misconceptions or 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: titles and abstracts, followed by full-text review, applying PICOS criteria (population, intervention, comparison, outcomes, study design).
Real-world trends and determinants of BRCA testing uptake in breast cancer
Of 2,003 records screened, 35 publications, representing 32 unique studies, met eligibility; 28 focused on real-world BRCA testing patterns, 7 unique studies (reported in 9 publications) examined beliefs and attitudes, and 11 unique studies (reported in 13 publications) identified barriers to testing among patients, HCPs, and payers.
BRCA testing rates for breast cancer ranged from 14 % to 87 % and increased over time. Study periods, patient criteria, and reporting methods varied. Routine ordering of BRCA testing by providers appeared to increase based on survey comparisons between 2018 and 2023.
BRCA testing rates differed by breast cancer subtype. Higher testing rates were seen in patients with TNBC compared to those with HR+/HER2-negative breast cancer in advanced or metastatic cases. In contrast, for early breast cancer, testing rates for TNBC were sometimes lower than for HR+/HER2-negative cases. Over time, testing rates for HR+/HER2-negative early breast cancer increased significantly.
BRCA testing was most common among high-risk patients, especially as eligibility criteria broadened. Testing rates were higher for earlier-stage disease, younger age, private insurance, and in academic or larger practices. In contrast, it was lower among Black patients, those in smaller practices, or with providers who see fewer patients or have fewer years in practice.
Surgeons most often ordered BRCA testing, with medical oncologists and genetic counselors also involved. Surgeon confidence in genetic counseling grew with experience. In academic centers, genetic counselors more frequently ordered tests. Some evidence suggested that access to genetic counseling did not always change ordering frequency, although other findings indicate it can improve referrals and uptake, highlighting mixed effects.
Among surgically treated early breast cancer patients, 14–78 % received BRCA testing pre-surgery. Earlier testing was more common among younger, more educated, stage II or TNBC patients, and those involved in surgical decisions. Most testing occurred within 3 months of diagnosis, with rates rising over time.
Negative attitudes and disbelief in the benefits of BRCA testing reduced testing, while positive attitudes increased it. Cost was a frequent barrier, and Black patients reported more negative attitudes than White patients. Patients sought testing for treatment and family benefit, but faced barriers including cost, mental health, insurance fears, family impact, and lack of knowledge. Some patients reported that clinicians discouraged testing based on perceived risk, subtype, insurance status, or ethnicity, despite guidelines that do not restrict testing by race or ethnicity.
HCPs faced logistical and cost barriers, and payer controls such as prior authorization reduced motivation to test. Providers open to innovation or with access to counseling ordered more tests, while those serving more uninsured patients ordered fewer.
Key drivers for increased BRCA testing included updated guidelines, lower costs, collaboration with genetic counselors, and greater patient awareness. Persistent barriers included reimbursement challenges, limited knowledge sharing, a lack of counseling resources, patient concerns, and slow turnaround. Payers cited overutilization in low-risk patients, incomplete documentation, unclear guidelines, limited utility for treatment selection, and insufficient expertise as barriers.
Limitations and future opportunities
BRCA testing rates in breast cancer have risen, yet significant disparities and barriers persist. This review highlights evidence gaps, including outdated data: most included studies have data collection periods before 2020, limited research on multigene panel and cascade testing, and scarce payer perspectives, all compounded by varied study designs. To ensure current practices are reflected, future studies should address these limitations and examine the impact of evolving guidelines and new therapies, including the role of PARP inhibitors such as olaparib in shaping testing uptake.
Improving BRCA testing uptake will require targeted education for providers, payers, and patients, especially in community settings and among Black patients. Innovative care models, such as telehealth, greater access to genetic counseling, and clearer information on costs and coverage, could enhance BRCA testing. Addressing these challenges is crucial for equitable and timely BRCA testing, ultimately improving patient outcomes.
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The study was funded by Merck Sharp & Dohme LLC and AstraZeneca, companies involved in developing BRCA-targeted therapies, with funder employees participating in study design, data interpretation, and manuscript preparation.
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