Convenient spit test helps women assess cancer risk from the comfort of their own homes

Genetic testing for cancer risk can significantly improve the prevention or treatment of hereditary cancers, but studies have shown that people who might have a genetic risk often don’t get tested. A collaborative Stand Up To Cancer ‘Dream Team’ of researchers co-funded by Ovarian Cancer Research Alliance and the National Ovarian Cancer Coalition have tested a possible solution through a clinical trial aimed at making genetic testing more accessible.

The trial, called MAGENTA (Making GENetic Testing Accessible), engaged nearly 4,000 women from all 50 US states. It is the first large, randomized study to assess different combinations of remote pre- and post-test genetic counseling for cancer risk. The results, which were presented recently at the American Society of Clinical Oncology’s annual meeting, showed that genetic testing can be provided remotely and that genetic counseling before and after testing can be skipped without causing increased distress to patients undergoing genetic testing from their home.

“The MAGENTA trial results are especially relevant now given the fact that the coronavirus pandemic is necessitating the timely and effective delivery of virtual healthcare,” said Elizabeth Swisher, MD, co-leader of the Dream Team and director of the Division of Gynecologic Oncology at UW School of Medicine. “There are many benefits to this new design, so I do see genetic testing for medical purposes headed in this direction, regardless of the pandemic.”

The trial began in 2016 and ended in 2020. All of the women who participated in the trial had a family history of breast or ovarian cancer or had a family member with a known genetic mutation. Each participant underwent genetic testing for 19 genes associated with inherited cancer risk. Testing was done using a saliva kit provided by Color Genomics, which was mailed to each trial participant’s home and then returned by standard mail.

“Ovarian Cancer Research Alliance is so pleased to have played a pivotal role in this important and timely project,” said Audra Moran, President and CEO of Ovarian Cancer Research Alliance. “Better understanding your risk of ovarian cancer is one of the most important things a woman can do to empower herself against the disease. We hope the results of this study will lead to easier access to potentially life-saving genetic testing for more people.”

Trial participants were split into four groups. In every group, women watched an educational video on genetic testing for cancer risk before completing their test. In the standard group women had mandatory genetic counseling by phone before and after testing. In the other three groups women skipped the pre-test counseling, the post-test counseling or both. In all four groups, anyone with a positive test result had genetic counseling delivered by a telephone appointment.

The study recently completed analysis of the first three-month follow-up survey to determine if the remote counseling methods caused negative feelings such as distress or anxiety for trial participants. Analysis of 12 and 24-month checkup surveys will follow.

Results from the three-month follow-up survey showed that the electronic genetic education methods were effective and skipping personalized counseling did not increase patients’ distress. If applied broadly, this can allow medical practitioners to more efficiently provide genetic testing.

Furthermore, skipping pre-test counseling resulted in more follow-through in completing the testing than traditional genetic counseling. Lastly, the approach increased access by eliminating common barriers associated with scheduling and attending several in-person counseling and testing appointments at a medical center or clinic.

“These trial results are not only tangible but empowering for women with inherited risk for ovarian cancer,” said Melissa Aucoin, CEO of the National Ovarian Cancer Coalition. “With the vast majority of women diagnosed in late stages, improving preventative measures can have a significant impact on the future of ovarian cancer. We applaud the Dream Team for delivering progress.”

“The majority of individuals meeting the U.S. Preventative Services Task Force guidelines for genetic testing have not received genetic testing or counseling,” said Karen Lu, MD, principal investigator of the study and professor and chair of Gynecologic Oncology and Reproductive Medicine at The University of Texas MD Anderson Cancer Center. “The results of this study demonstrate that using online and remote methods for preventative testing and genetic counseling can be an option to help break down barriers and expand the availability of preventative cancer care.”

One family’s story

Before Roni Scheller passed away from ovarian cancer at age 59, she encouraged the women in her family to participate in genetic testing. Her two sisters, Pamela and Kyle, as well as her cousin Dalin, all enrolled in the MAGENTA clinical trial.

Dalin and Kyle tested negative. Pamela tested positive for a genetic mutation that significantly increases her risk of breast and colorectal cancer. After discussing the risks and benefits of treatment options with her physician, she decided to have her breasts and ovaries removed as a preventative measure. She is also very diligent about getting regular screening tests for colorectal cancer.

“The whole process felt very empowering to me,” said Pamela. “Knowing what my risks were and being able to direct my concerns into action removed the constant ‘maybes’ and ‘what ifs’ that I was feeling before the test.”

The MAGENTA trial provided all the tools to make the process convenient and smooth, Pamela explained. She doesn’t have any regrets and feels like knowing her genetic information gives her peace of mind.

“I feel lucky to live in these times when modern medicine can provide answers. And of course Dalin, Kyle and I will be forever grateful to my sister Roni for encouraging us to participate in the MAGENTA trial,” said Pamela.

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