Genetic testing, risk assessment tied to more breast MRI uptake

Women who carry high-risk genetic variants for breast cancer are significantly more likely to undergo breast MRI screenings compared to those with lower risk, according to a recent study. Researchers found that women identified with inherited pathological variants through genetic testing and risk assessment were nearly 10 times more likely to engage in breast MRI screenings than those with lower estimated risk.

Led by Dr. Leah Naghi from the City of Hope National Medical Center in Duarte, California, the study highlights the critical role of genetic counseling and testing in shaping patient decisions about supplemental MRI screenings. “These findings underscore the importance of a multidisciplinary approach in managing care for high-risk patients,” Naghi remarked. The research, conducted between 2014 and 2016, involved 638 women with an average age of 50.7 years.

Participants underwent counseling and multiplex gene panel testing (MGPT), a method that screens for multiple cancer susceptibility genes simultaneously. Women were then surveyed at intervals of three, six, 12, and 24 months, with a final survey conducted three to four years after counseling. Researchers categorized participants based on their genetic testing results and calculated lifetime breast cancer risk using the Tyrer-Cuzick model.

Among the participants, 43 women had BRCA or other high-risk pathological variants, 16 had moderate-risk variants, 146 had a lifetime breast cancer risk of 20% or greater, and 433 had a lower lifetime risk (<20%). The study also included 52 Asian, 21 Black, 271 Hispanic, and 255 white women. Findings revealed that women with high and moderate-risk variants were far more likely to undergo breast MRI screenings than those with low risk, with odds ratios of 9.81 for high-risk variants and 4.12 for moderate-risk variants. Additionally, women were nearly 16 times more likely to consistently engage in early MRI screenings compared to those with lower lifetime risk. Naghi emphasized that these results should reassure radiologists about the effectiveness of genetic testing and counseling in encouraging patient adherence to guideline-recommended screenings. “We hope this encourages radiologists to serve as advocates, guiding women toward genetic counseling and testing to optimize their care,” she said. Looking ahead, Naghi and her team are expanding their research through the INSPIRE study at the City of Hope Cancer Center, which focuses on therapeutic decision-making in a larger cohort. The study offers universal germline testing to both cancer-affected and unaffected patients, with over 30,000 individuals already recruited.