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Despite requests, many women with breast cancer do not receive genetic tests

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February 7, 2017

Many women with newly diagnosed breast cancer are not receiving the genetic testing that could detect mutations associated with ovarian and other cancers, according to a large survey published in JAMA.

Although about two-thirds of the women surveyed said they wanted genetic testing. However, only about one-third reported being tested, and only 53% of women with a high risk for a genetic mutation received testing.

Allison Kurian

“I was surprised to see that only half of women at high risk for carrying a genetic mutation report that they received genetic testing, and my first thought was that we really need to do better,” Allison Kurian, MD, associate professor of medicine and health research and policy at Stanford, told HemOnc Today. “All of these women are indicated for genetic counseling and testing according to evidence-based clinical practice guidelines, so half is not enough.

“Women are very interested in genetic testing, but many fail to receive it,” Kurian added. “This is particularly worrisome because it means that doctors are missing the opportunity to prevent cancers in mutation carriers and their family members.”

For more than 20 years, genetic testing has identified the presence of mutations in the BRCA1 and BRCA2 genes, which are strongly linked to the development of breast and ovarian cancers, as well as the presence of other cancer-related mutations.

“There have been a number of changes in genetic testing recently. In particular, the cost has decreased, and it is possible to test for many more genes using next-generation sequencing panels,” Kurian said. “We thought it was important to understand how genetic testing is being used in this new environment.”

In their study, Kurian and colleagues surveyed 2,529 women (mean age, 62 years; 56.8% white; 17.8% black; 71.2% some college education) with stage 0 to stage II breast cancer 2 months after surgery. Women provided information on whether they wanted genetic testing and, if so, whether they had received it.

Of the respondents, 66% (95% CI, 64.2-68.2) reported wanting testing, but only 29% (95% CI, 27.1-30.9) reported being tested. Additionally, 31% (95% CI, 29.2-33.1) of patients had a high pretest mutation risk.

Among average-risk patients, 59.3% reported wanting testing, 35.9% reported talking with a doctor or other health professional about testing, and 17.8% received testing. Among high-risk patients, 80.9% wanted testing, 70.9% discussed testing with their doctor or health professional, 39.6% had a session with a genetic counseling expert, and 52.9% received testing.

“Knowing that a patient has a mutation, not just that she is at high risk for having a mutation because of her personal or family cancer history, enables us to give precise estimates of her future cancer risks and those of her family,” Kurian said. “This is especially important for cancer risks that might not be expected without the results of genetic testing.

“For example, if we learn that a breast cancer patient has a BRCA1 mutation, we have learned that she has a very high risk for ovarian cancer, a disease that often kills patients and can be prevented by surgery (removal of ovaries and fallopian tubes) if a patient is known to be at high risk due to a mutation,” Kurian added. “Additionally, the patient’s relatives can be tested to determine whether they carry this same gene mutation. If they do, then they also have high breast and ovarian cancer risks and can have intensive screening or prevention interventions that can save lives. If they do not, then they are not at high risk and do not need these extra interventions. Knowing about a genetic mutation can change care and save the lives of many people, namely the patient and many of her relatives.”

The most common reasons high-risk patients reported for not testing was, “my doctor didn’t recommend it” (56.1%), “too expensive” (13.7%), “I did not want it” (10.7%), and “my family didn’t want me to get it” (0.2%). Characteristics associated with no testing included older age and Asian ethnicity.

“In this case, we heard only the patients’ side of the story,” Kurian said. “We were not able to ask their physicians whether they actually recommended genetic testing or, if they did not, why not. But it is striking that of high-risk women who were not tested, the most commonly reported reason was, ‘my doctor didn’t recommend it.’ Thus, it seems possible that physicians are not sufficiently focused on assessing patients’ risk for genetic mutation carriage and on ensuring that high-risk patients are offered genetic counseling and testing.”

Reshma Jagsi

Reshma Jagsi, MD, DPhil, professor and deputy chair of radiation oncology at Michigan and a co-author of the study, agrees these results are concerning.

“We don't have a crystal ball, but genetic testing can be a powerful tool for certain women,” Jagsi said in a press release. “It is worrisome to see so many of those women at highest risk for mutations failing even to have a visit focused on genetic counseling.”

Women can have greater access to genetic counselors by improving care delivery models, Kurian said. She also stressed the need for physicians to better recognize genetic risks in patients and to better communicate the benefits of genetic testing.

“It is likely that some doctors don't realize the benefit that genetic testing provides,” Kurian said. “They may also lack the ability to explain the testing process and results clearly with patients. Priorities for the future should include strategies to expand the genetic counselor workforce and interventions to improve physicians’ skills in communication and cancer risk assessment.”– by Chuck Gormley

For more information:

Allison W. Kurian, MD, MSc, can be reached at Medicine and Health Research and Policy, Stanford University School of Medicine, Health Research and Policy Redwood Building, Room T254A, Stanford, CA 94305; email: akurian@stanford.edu.

Disclosure: National Institutes of Health helped fund the study. Kurian reports research funding from Myriad Genetics, Invitae and Ambry Genetics. Other researchers report no relevant financial disclosures.