Low Uptake of Hereditary Cancer Screening Among Breast Cancer Survivors Highlights Missed Opportunities for Preventive Care
In a cancer survivorship clinic in urban New York, only one-quarter of long-term breast cancer survivors received genetic testing, contrary to current recommendations.
Among long-term survivors of breast cancer seen in a Bronx, NY, survivorship clinic, only 26% underwent genetic testing, despite established guidelines recommending the follow-up evaluation. Among 211 women at least 5 years post–breast cancer diagnosis, just 77 (36%) were referred to genetic counseling, and only 55 ultimately received genetic testing.
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The pilot study findings were presented during the 2025 American College of Obstetricians and Gynecologists Annual Clinical & Scientific Meeting, May 16-18, 2025, in Minneapolis, MN.
Conducted at the Montefiore Einstein Comprehensive Cancer Center’s breast survivorship program, this retrospective review was designed to quantify genetic counseling and testing uptake over a 1-year period (January to December 2023) and to identify barriers within an urban patient population, according to presenting author Aushna Saleem, who reviewed the findings during an ePoster session on Friday, May 16.
Of the 77 patients referred for genetic counseling, 67 completed counseling, and 55 proceeded with testing. Twelve declined testing after counseling; 3 cited financial barriers as their reason. Referral timing varied, with 34 of the 77 patients (44%) referred at the time of diagnosis or within 1 year.
Breast cancer is the most commonly diagnosed cancer among women globally, the study authors wrote. Of women who have survived cancer, 40% have survived breast cancer. Saleem and coauthors emphasize that genetic testing can influence care not only for the woman with breast cancer, but also for family members. Changes in clinical guidelines have increased new diagnoses of breast cancer, increasing the pool of women eligible for initial genetic testing, they pointed out, but uptake among survivors remains low. Their findings provide “evidence for gynecologic and primary care teams routinely referring these patients for genetic counseling as part of continued care.”
The findings underscore a gap in the integration of genetic testing into survivorship care, even in an academic setting like the current one, with dedicated clinics. The study also adds to the growing body of evidence calling for increased provider awareness and infrastructure to support the genetic testing needs of cancer survivors, especially in underserved urban communities.
