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Knowing Genetic Risk for Breast Cancer May Not Lead to Long-Term Distress


Women who receive a score about their genetic risk for breast cancer may not be as anxious or stressed about their results, although women with higher genetic scores may display some of these emotions.

Receiving a genetic score about a patient’s risk for breast cancer may not be as stressful or worrisome to patients as once believed.

The polygenic risk score used in this current study took into consideration 62 genetic variants (including the two usual indicators found in BRCA1 and BRCA2) with the goal to look at the combined impact of multiple low risk variants across the DNA and their impact on an increased risk for breast cancer. Of note, traditional genetic risk assessments are based on single risk genes, which find a single mutation in a high or moderate risk gene.

“The thing with polygenic risk is that it's much more personalized, it's really about you,” Dr. Tatiane Yanes, genetic counsellor and post-doctoral research fellow at The University of Queensland Diamantina Institute in Brisbane, Australia, explained in an interview with CURE®.

Yanes added that results from the trial could be directly translated to the United States, as the Australian and American populations tend to have similarities.

Making genetic risk tests more widely available could help to decipher who needs to undergo screening earlier versus those who may not need to start screening until after the recommended age, according to Yanes.

“At the moment, breast screening — it depends on which country you're at — but in Australia, breast screening generally starts at age 50, and you'd be eligible to have mammograms every two years through our public health system. But we know that not everybody will be at the same level of risk at age 50. Some people may have a higher genetic background risk, which puts them in a higher risk of having breast cancer,” Yanes explained. In the United States, screening for breast cancer begins at age 45 and is recommended annually.

Researchers from the study, which focused on 208 patients with a family or personal history of breast cancer, gave patients the option of receiving a polygenic risk score. Among those enrolled, 79% received their genetic risk score.

According to Yanes, polygenic risk score tests were originally thought to increase distress in patients with a history of breast cancer, but the study found otherwise. “Those who didn't receive their result actually expressed higher levels of regret. (They) were significantly higher than those who actually received their result,” she explained.

Yanes noted that main reasons preventing patients from getting the test included concerns on how they would cope emotionally as well as difficulties attending the appointments for the test. She said, “It really highlighted to us that we need to actually improve our access and support to people who are making decisions about having genetic testing, whether it be through decision aids that actually kind of help people to think through about the issues and gives them more information up front.”

Other areas of improvement for genetic testing include having more telehealth options as well as giving access to more genetic services that may have been out of reach for them in the past.

Next steps, according to Yanes, is continuing the study into a national trial, where she is recruiting approximately 5,000 patients from across Australia.

“We're looking to see them up to five years how they respond to that information by looking beyond how they feel about it but looking as well at what does it actually impact in terms of the decisions of how they manage the level of breast cancer risk,” she said.

Of note, the effects of polygenic risk score are being researched worldwide but are not yet available outside of clinical trial in the United States.

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