Genetic Testing for Hereditary Cancer: Key Disparities Across Patient Groups

Two new studies published in Frontiers in Oncology reveal significant gaps in genetic testing for hereditary cancer syndromes among different patient populations in the United States.

Study 1: BRCA Testing Rates in Breast Cancer Patients

A comprehensive review of real-world data on BRCA testing among U.S. breast cancer patients found testing rates ranging from 14% to 87% across various studies, with rates increasing over time.

Testing Variations by Patient and Disease Characteristics

• By subtype: In advanced or metastatic cases, testing was more common for triple-negative breast cancer (TNBC) compared to hormone receptor-positive/HER2-negative cases. However, for early-stage disease, TNBC testing rates were sometimes lower.
• By demographics: Patients with earlier-stage disease, younger age, private insurance, and treatment at academic or larger practices were more likely to undergo testing.
• Racial disparities: Lower testing rates were observed among Black patients, those treated at smaller practices, and those with less experienced providers.
• Who orders testing: Surgeons most frequently ordered genetic testing. Genetic counselors were more commonly involved at academic centers.
• Timing matters: Among early-stage patients, pre-surgery testing rates ranged from 14% to 78%. Earlier testing was associated with younger age, higher education, stage II disease, and TNBC subtype.

Three Categories of Barriers to Testing

Patient-level: Cost, mental health concerns, fear of insurance discrimination, lack of knowledge, and negative attitudes toward testing. Black patients reported more negative attitudes than White patients.

Provider-level: Logistical challenges, cost, prior authorization requirements, and limited expertise. Some clinicians discouraged testing based on perceived risk, cancer subtype, insurance status, or patient ethnicity.

Payer-level: Concerns about overutilization, incomplete documentation, unclear guideline interpretation, and limited perceived utility for treatment selection.

Factors That Increased Testing Uptake

Updated clinical guidelines, reduced testing costs, collaboration with genetic counselors, and increased patient awareness were associated with higher testing rates. Persistent barriers included reimbursement issues, limited counseling resources, and slow turnaround times.

Study Limitations

The authors noted that most studies used data collected before 2020. Limited research was available on multigene panel testing, cascade testing of relatives, and payer perspectives. Study designs varied across the included research.

Future Directions

"Targeted education, telehealth services, increased access to genetic counseling, and clear cost information" were recommended as potential strategies to improve equitable testing.

Study 2: Gender Disparities in Genetic Testing for Hereditary Cancer

A retrospective analysis of laboratory cancer testing data from 224,041 adults, collected between June 2020 and August 2023, identified significant gender-based differences in testing patterns.

Key Findings at a Glance

Referral Patterns

• Men were seven times more likely to be tested through cascade testing after a pathogenic variant was identified in a relative.
• Men were more likely to have a personal history of cancer (27% vs. 13%) but less likely to report a family history of cancer.
• Men were typically referred through primary care or general specialty clinics, while women were more often referred through women's health services.

Genetic Findings

Men were more likely to carry actionable variants, particularly in BRCA1/2 genes, which were identified three times more frequently in men than in women.

Among men with a personal cancer history, prostate, colorectal, and pancreatic cancers were the most commonly reported.

Proposed Reasons for Disparity

The authors suggested several contributing factors:

• Men may be referred for testing primarily after a cancer diagnosis, often to guide treatment decisions.
• Lower engagement with preventive healthcare and reduced health-seeking behavior among men.
• A lack of male-specific screening guidelines.
• Existing BRCA-related prediction models are largely designed for women and may not accurately identify at-risk men.
• Men with pathogenic BRCA1/2 variants are less likely to undergo genetic counseling.

Recommendations

The authors called for improved research methods to better document family cancer history among men, development of male-focused hereditary cancer risk prediction tools, and integration of hereditary cancer screening into routine healthcare for men—particularly in primary care settings.

Study Limitations

The authors acknowledged potential recall bias from patient- or provider-reported family cancer history, an older average age for men potentially leading to selection bias, and reliance on data from a single commercial laboratory, which may limit generalizability. Several authors are affiliated with the laboratory that provided the data.