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Breast Cancer Patients Not Getting Desired Genetic Testing, Counseling


A recent JAMA study found that women with breast cancer would generally like to receive genetic testing and counseling, but less than one-third actually receive it.

A recent JAMA study found that women with breast cancer would generally like to receive genetic testing and counseling, but less than one-third actually receive it. The authors determined that physicians must work to address this gap by proactively offering these services to their patients.

Genetic testing to identify women at elevated risk of developing hereditary breast or ovarian cancer has been a prominent topic in the news ever since Angelina Jolie penned a New York Times column in 2013 explaining her decision to undergo a preventive double mastectomy when a test revealed she was a BRCA1 gene carrier with an 87% chance of developing breast cancer. Though her announcement undoubtedly raised awareness of genetic testing, the study recently published in JAMA indicated that physicians may be falling short at meeting the increased demand for these tests.

Researchers surveyed 2529 women who had recently undergone surgery for breast cancer and asked whether they wanted genetic testing, and if they had discussed it with a health professional. They also collected the women’s family cancer history, ancestry, and clinical information to determine which women had the highest pretest risk of genetic mutation.

Two-thirds of total women surveyed said that they wanted genetic testing, but just 29% reported that they had actually been tested. Although 35.9% of the women at average risk of genetic mutation discussed testing with a healthcare professional, only 17.8% followed through and had the testing done.

Responses from the 31% of women who were at high risk of having a gene mutation were also concerning. A little over half had the testing done, even though 80.9% wanted it. When these high-risk women were tested, just 61.7% met with a genetic counselor to discuss the results. A majority (56.1%) of women said they were not getting tested because their doctor had not recommended it, but smaller fractions of women felt it was too expensive (13.7%) or they simply did not want it (10.7%). Asian women and older women at high risk were more likely to be undertested.

The study authors voiced concerns that the low testing rates signified a missed opportunity for physicians to potentially prevent breast and ovarian cancer in patients and their family members. They also noted that genetic counseling is a crucial, though underutilized, resource for women seeking guidance at this critical juncture.

“Genetic testing results can affect what sort of surgery a woman may choose to treat her existing breast cancer, as well as what treatments she should pursue to reduce the risk of forming new cancers in the future,” said co-author Reshma Jagsi, MD, DPhil, in a statement. “We don’t have a crystal ball, but genetic testing can be a powerful tool for certain women. 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.”

The researchers recommended that improved patient—provider communication could help physicians more accurately assess patients’ risk and desire for testing, at which point they could then facilitate the process of directing these patients to the appropriate genetic counseling services.

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