UW Medicine study shows at-home genetic tests effective for breast, ovarian cancer

In a study led by researchers at UW Medicine, at-home genetic test kits for breast and ovarian cancer have proved to be just as effective as the clinical protocol that involves a blood draw, office visits, and individualized genetic counseling.

The results of MAGENTA (Making Genetic Testing Available), a three-year study, were published this month by the American Society of Clinical Oncology. Women who did not receive pre- and post-test counseling showed no signs of increased stress about their test results.

“MAGENTA is a study where we wanted to make genetic testing for cancer risk more accessible, so our idea was to bring genetic testing to women in their home,” said Dr. Elizabeth Swisher, director of the division of gynecologic oncology at UW Medicine and a lead author of the study.

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The hope was to make testing more convenient for patients, avoiding the typical practice of patients making an appointment, getting their blood drawn, and then coming back for a second appointment to get the results. At-home tests are even more critical in the days of COVID-19, limiting the number of times a patient has to come into the office.

“To me, every woman that dies of hereditary ovarian cancer is a life unnecessarily lost,” Swisher said. “I’ve lost too many of those patients myself, so making this testing more accessible … is an opportunity to save lives.”

Swisher acknowledged that the next step is to try to make genetic testing more accessible for all patients, including under served populations and populations that are not primarily English speaking, don’t have high health care literacy, or don’t have familiarity with genetics.

A limitation for MAGENTA was that most patients were white, highly educated individuals. Swisher says genetic risk is not limited to Caucasian patients, and there is a need to provide these tests and information across the board.

“What was a little bit surprising was that personalized telephone counseling where a subject could talk to a person who was an expert in genetics before they got the test, and then again after they got the test to receive the results was not necessary,” Swisher said. “And patients had no increased anxiety or stress if they skipped that counseling process and just received online genetic education.”

Ovarian cancer, Swisher said, is a very deadly disease and there is no early detection.

“So our best chance for decreasing mortality of ovarian cancer is prevention, and in order to prevent ovarian cancer, we remove the ovary surgically,” Swisher said. “We don’t want to do that for women who just have a normal risk of cancer. We want to target that for women who have an increased risk of cancer.”

The genetic testing allows doctors to document women who have a high-risk of ovarian cancer, which can be prevented if their risk is identified.

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“We’re not going to prevent all ovarian cancers through this strategy,” Swisher said. “But it will help identify women at high risk before a cancer is diagnosed. There are a lot of lives we can save if we identify those women and then reduce their risk.”