Considering Genetic Testing? A Decision Support Tool for Young Women with Breast Cancer

September 2017 Vol 8, No 9

A decision support tool for young breast cancer patients considering genetic testing for BRCA1/2 proved to be acceptable and feasible in a pilot study in the United Kingdom.

Younger breast cancer patients are more likely to have inherited genetic mutations, and altered BRCA genes cause 5% to 10% of breast cancers. Women with breast cancer and a BRCA mutation are more likely to develop another new breast cancer, and as a result, genetic testing around the time of diagnosis, or treatment-directed genetic testing, is becoming increasingly common, according to Chloe Grimmett, BSc, PhD, Postdoctoral Research Fellow and Senior Research Fellow for Macmillan Survivorship Research Group at the University of Southampton, UK.

Knowledge of BRCA status is used to support surgical decision-making and inform chemotherapy regimens. With the growing emphasis on shared decision-making, women require comprehensive and tailored information to meet their needs, but this information is often unavailable outside of specialist genetics services. However, decision support tools may enhance understanding, reduce uncertainty, and support joint decision-making by outlining risks and benefits, she said.

“Many people think genetic testing around the time of diagnosis can only be a positive thing since it provides the medical team with more information that can potentially inform their treatment,” said Dr Grimmett at the APOS Annual Conference. “But for a younger woman, it has far-reaching implications for her family and possibly for her future children.”

Study Design

Dr Grimmett and colleagues developed and piloted a web-based support tool for young breast cancer patients considering genetic testing for BRCA1/2. Participants in the study were younger than 50 years and more than 18 months postdiagnosis of early-stage breast cancer, recruited from 2 hospitals. The tool represents the first such resource developed for this patient group.

“Central to the development of this tool was patient input,” she noted. “It was important that we knew, in real depth, the information they wanted in this tool.” Semistructured interviews explored the women’s informational needs, focus groups examined their preferences for information presentation, and think-aloud interviews evaluated the usability and acceptability of the resulting prototype. The finalized tool focused on 4 key areas: content/knowledge requirements, design requirements, language requirements, and access.

Acknowledge Personal Values

Feedback gleaned from 29 interviews revealed that patients desired a tool that acknowledged their personal attitudes and values, provided knowledge of reasons to have or not have genetic testing, addressed the practicalities around the testing process, and communicated the implications of testing for themselves and their families.

“In terms of design requirements, there was a real variation in the depth of information that women wanted in this kind of tool, and that didn’t just vary between individuals, but also within individuals,” said Dr Grimmett. These varied information preferences fluctuated according to context and were often influenced by treatment schedules.

Patients desired clear, “jargon-free” information, avoidance of the terms “faulty gene” or “mutation” in favor of “altered gene,” and warnings before accessing sensitive information. “As a result of that type of feedback, we designed a warning to pop up if a woman was about to access potentially sensitive information—for example, the risk of future cancers if a BRCA mutation was present—so she could make an informed decision about whether or not she felt comfortable accessing that information at that point in time,” she said. In terms of accessing the tool, patients stressed the importance of clinical endorsement of the information they were reading, as well as assurance that the information they were accessing was secure and confidential. They also wanted to be able to access the tool on multiple devices.

According to Dr Grimmett, a support tool that allows women to evaluate the pros and cons of their options and the value they place on these factors has the potential to reduce decisional and psychological complications. The finalized support tool was well received and will be tested in a future randomized controlled trial.

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Last modified: November 15, 2022

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