A targeted literature review examined how often patients with breast cancer in the United States are tested for germline mutations in breast cancer genes. Researchers looked at 35 publications that represented 32 unique studies to understand testing patterns, barriers, and patient knowledge. Most of the data collected in these studies occurred before 2020, which limits how well it reflects current practices.
The analysis found that testing rates increased significantly over time, with gains ranging from 7% to 47%. Despite this progress, the review highlighted a persistent unmet need for improved testing. This gap is particularly evident among eligible patients who have hormone receptor-positive early breast cancer. These patients may not be receiving the genetic testing they qualify for.
Because the evidence comes from a review of older studies with varying designs, readers should be cautious about applying these findings directly to today's clinics. The authors suggest that further evaluation is needed to understand recent testing trends and the barriers that still exist. Patients and providers should recognize that while testing is becoming more common, access is not yet equal for everyone.