Deciding what to do after testing positive for a mutation in the BRCA1 or BRCA2 (BRCA1/2) breast and ovarian cancer susceptibility genes is one of toughest decisions a woman can face. The sheer complexity of the choices and possible outcomes is not only difficult for women to sort through, but “as the science progresses, it has even become hard for some physicians to know what to recommend,” explains Allison W. Kurian, MD, MSc, a 2008-2011 Robert Wood Johnson Foundation (RWJF) Physician Faculty Scholar.
Motivated by her experiences with patients in the Stanford Program for Clinical Cancer Genetics, Kurian, an oncologist at Stanford University School of Medicine, decided to create a decision-making tool to guide women through the maze of confusing options.
Evaluating Tough Choices
“I began by conducting research that compared the outcomes for women who made different decisions about what to do after discovering that they had the mutation,” Kurian says. “We looked at prophylactic mastectomy, ovary and fallopian tube removal, or annual screening of the breast with mammography and magnetic resonance imaging.”
Kurian and her colleagues’ article, “Online Tool to Guide Decisions for BRAC1/2 Mutation Carriers,” was published in the Journal of Clinical Oncology in January 2012. The work resulted from a long-term collaboration between Kurian, her research mentor and colleague Sylvia K. Plevritis, PhD, associate professor of radiology at Stanford, and their research teams. They found that the prophylactic removal of the breast and ovaries was most effective in preventing cancer. But removing the ovaries generally had a greater estimated impact on survival than removing the breasts, “because we can screen for breast cancer, but we do not have an effective test for ovarian cancer,” Kurian says.
Making It Personal
Rather than simply presenting all women who carry mutations in BRCA1/2 with this list of choices, Kurian, Plevritis and colleagues designed a decision-making tool that would allow women, and their physicians, to consider factors unique to their situation. “I see patients who are referred to me because of their own history or family history, so I’ve come to see personalized risk factor management as the future of medicine, especially with the use of genetic tools,” Kurian explains.
Advances in science underscore the need for Kurian’s approach. It is currently estimated that more than 500,000 people in the United States carry BRCA1 or BRCA2 gene mutations. “We attribute roughly 5 percent of breast cancers to BRCA1/2 mutations, but we also know that other genes play a role, and we are beginning to test for mutations using more extensive multi-gene panels,” Kurian says.
By placing an emphasis on practical, risk-adapted recommendations for managing life with gene mutations, the tool created by Kurian and her colleagues is extremely helpful to patients. “Most often, these test results are given without a suggestion for how to use the information. We emphasize utilizing the genetic screening results for prevention.”
The BRCA decision tool focuses on: making it possible for physician, patient and family members to make decisions together, after each person reviews the facts; and guiding patients in living with all outcomes, including cancer incidence and treatment experiences. “We look at ways for women to manage the experience of living with cancer,” Kurian adds.
Taking the Next Step
Kurian is delighted that the BRCA Online Decision Tool is receiving lots of traffic, but she’s still seeking ways to do more for women with an increased genetic risk for breast or ovarian cancer. “My latest research looks at the clinical use of emerging tests that identify other genes that may influence breast and ovarian cancer risk, in addition to what we already know about BRCA1/2 mutations,” Kurian says. “We are looking at ways to translate these genetic test results into actionable patterns of care and determine what outcomes may result from those decisions. I’m concentrating on helping patients understand that they have choices, and how managing those choices can benefit their health.”