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William J. Gradishar, MD, FACP, FASCO


Does Receipt of Genetic Counseling Make Uptake of Genetic Testing in Breast Cancer More Likely?

By: Kayci Reyer
Posted: Tuesday, September 27, 2022

According to research presented in JAMA Open Network, patients who receive genetic counseling from their primary care physician are not necessarily more likely to undergo genetic screening for hereditary breast and ovarian cancer markers. The U.S. Preventive Services Task Force recommends that primary care providers perform genetic screening in their asymptomatic female patients to determine whether the women carry a high-risk BRCA1/2 variant.

“Identifying women with BRCA1/2 variations can inform risk management and prevention strategies, including intensive breast cancer screening with mammography and breast MRI, risk-reducing surgeries (prophylactic mastectomy, bilateral salpingo-oophorectomy), and chemoprevention,” noted Katherine D. Crew, MD, MS, of the Columbia University Irving Medical Center, New York, and colleagues. “Such preventive strategies can reduce a BRCA1/2 carrier’s cancer risk by up to 90% once she is identified.”

Between December 2018 and February 2020, the study enrolled 67 clinicians as well as 187 women between the ages of 21 and 75 who had not previously been diagnosed with or screened for markers of breast or ovarian cancer. Patients were assigned to either the intervention group (n = 101) or the control group (n = 86). Overall, 164 women completed the trial. Patients in the intervention group received the RealRisks decision aid questionnaire, whereas clinicians received the Breast Cancer Risk Navigation Tool.

At follow-ups of 6 and 24 months, no statistically significant difference was observed in the rate of genetic counseling between the intervention (19.8% and 30.7%, respectively) and control groups (11.6% and 20.9%, respectively). However, more than one-third of enrolled women belonging to an ethnic minority group received genetic counseling.

“These findings suggest that the main advantage for these high-risk women is the ability to opt for screening and preventive services to decrease their cancer risk,” concluded the authors.

Disclosure: For full disclosures of the study authors, visit

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