Outcomes and Behaviors Among Women Receiving or Declining Their Breast Cancer Polygenic Risk Score
A recent study examined patient-reported outcomes and risk-management behaviors of women choosing to receive or decline their breast cancer polygenic risk scores (PRS). The findings were published by Tatiane Yanes, PhD, and colleagues in Genetics in Medicine.
The research aimed to look at how the communication of breast cancer risk affected women who had undergone genetic testing. Lead author Dr. Yanes said the study focused on women who had undergone genetic testing to determine their PRS—an analysis of 62 genetic variants in addition to the two usual indicators of breast cancer found in the genes BRCA1 and BRCA2.
This is the first time that we have looked at how women who receive this information react. Does it cause more stress, or does it reduce it, and can it bring about positive behaviors in women who have either already been diagnosed with or have a family history of breast cancer?— Tatiane Yanes, PhD
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“PRS is a new type of genetic testing and genetic information that we haven’t been able to offer before because we’ve only been focusing on single genes,” said Dr. Yanes, who conducted the study as part of her PhD at the University of New South Walesand is now with University of Queensland. “The vast majority of women who get screened for the BRCA genes come back negative, but that doesn’t always mean there’s no breast cancer risk. PRS looks much more broadly at variants in your DNA.”
She continued: “Past studies have shown that getting a PRS for breast cancer has the potential to improve health outcomes. This is the first time that we have looked at how women who receive this information react. Does it cause more stress, or does it reduce it, and can it bring about positive behaviors in women who have either already been diagnosed with or have a family history of breast cancer?”
Rates of Receivers
Of the 208 study participants, 165 women (80%) agreed to receive their PRS, while the remaining 43 participants declined to be informed. Among the women who agreed to be told their scores, 104 were given a high-risk score, whereas the remaining 61 were assessed as low-risk.
Not surprisingly, the study found that women with a higher PRS experienced slightly more distress and anxiety upon receiving their result than those with a low PRS. However, according to Dr. Yanes, “it wasn’t really that big a gap to actually warrant additional psychological support.”
Reports of Regrets
Surprisingly, when the researchers compared the psychological outcomes of the women who opted to receive their PRS with those who declined, more women in the latter group reported regret about their original decision not to find out.
“Those who had received the results reported basically minimal regret. In fact, more than half of them actually had a score of zero, which means no regret at all,” said Dr. Yanes. “But the average regret score for those who didn't receive that PRS result was around 38 out of 100, [as] compared to an average score of just 9 in the ‘receivers’ group.”
The researchers gathered the results in follow-up questionnaires at 2 weeks and 12 months after calculating the PRS scores, and they measured regret using a validated method known as the Decision Regret Scale.
Among the women who declined to find out their PRS, reasons included being “happy with their lives right now,” or that they were “already aware of breast cancer risk” and that the “test will not tell them when they will develop breast cancer.” Other reasons included not being able to attend the appointment in person and concern over how they would handle it emotionally.
Dr. Yanes said the results may help clinicians and genetic counselors to equip women with the tools to make an informed decision about whether they should receive their PRS result.
“We want doctors to be able to provide women with clear information outlined in decision aids that explain what the PRS is and the type of access women have to these genetic services. What we don’t want is that people decline information out of fear or [that some] aren’t able to make an informed decision because they may not fully understand the information or what the implications for them are.”
Disclosure: For full disclosures of the study authors, visit nature.com.The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.