Disparity between desire for, availability of BRCA gene testing
medwireNews: The majority of women newly diagnosed with early-stage breast cancer would like to be tested for BRCA1 and BRCA2 mutations, but only a small proportion undergo genetic testing.
Allison Kurian (Stanford University School of Medicine, California, USA) and team surveyed 2529 women aged 20–79 years within 2 months of them having surgery for stage 0–II disease. The majority (66%) reported wanting testing, but less than a third (29%) reported being tested.
This gap was evident even among women with high-risk disease, with 80.9% wanting to undergo testing and 52.9% having the test. This represents “a missed opportunity to prevent ovarian and other cancer deaths among mutation carriers and their families,” say the researchers.
Furthermore, the primary reason given by high-risk patients for not testing was lack of physician recommendation (56.1%), followed by expense (13.7%) and lack of personal desire (10.7%).
“The findings emphasize the importance of cancer physicians in the genetic testing process,” Kurian et al write in JAMA. “Priorities include improving physicians’ communication skills and assessments of patients’ risk and desire for testing, and optimizing triage to genetic counselors.”
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