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Can chatbots help with genetic testing for cancer risk?

In a study by the University of Utah’s Huntsman Cancer Institute and New York University’s Langone Perlmutter Cancer Center, researchers found that a specialized chatbot can effectively help patients decide whether to pursue genetic testing, offering an alternative to traditional genetic counseling.

Kimberly Kaphingst, ScD, research director of the Genetic Counseling Shared Resource and co-director of the Cancer Control and Population Sciences Program at Huntsman Cancer Institute, and a professor of communication at the U, says the results of the BRIDGE (Broadening Outreach, Impact, and Delivery of Genetic Services) trial could help expand patient access to genetic care.

According to the American Cancer Society, up to 10% of all cancers may be caused by inherited genetic changes.

“There are a significant number of people who have a hereditary cancer syndrome. The vast majority don’t know it,” Kaphingst says. “As we’re getting better at identifying people who need genetic testing, as a team we were very interested in finding sustainable and scalable ways to actually provide those kinds of genetic services.”

The current standard of care model for genetic testing involves a two-appointment process. Patients first meet with a genetic counselor for a pre-test appointment, during which they discuss their family history as well as the risks, benefits, and limitations of testing. If patients decide to proceed with testing, they schedule a second appointment to discuss results with the counselor.

The BRIDGE trial used an algorithm to find patients at increased risk for hereditary cancer syndromes based on their self-reported family health history.

The researchers then split more than 3,000 participants from Utah and New York into two groups: one that followed the standard two-appointment model and the other that interacted with a chatbot designed and programmed to provide genetic education instead of having a pre-test appointment with a genetic counselor.

Participants in the chatbot group received a message through MyChart, an online patient health portal, recommending genetic services and providing a link to launch a chatbot. They then received information about genetic testing and were able to ask questions to help them decide whether they should proceed with testing.

The researchers found that the two groups were equally likely to complete genetic testing, demonstrating that a chatbot is a viable alternative to the traditional model.

“Our goal wasn’t to see if the chatbot was better or worse. The question was whether this is another model we can use to offer genetic services to patients and get similar results. For many people, the chatbot model provided enough information,” Kaphingst says. “The chatbot can take some of the burden off genetic counselors and help provide genetic testing to more patients who are eligible.”

Genetic counselor and researcher Rachelle Chambers, MS, CGC, director of the High-Risk Cancer Genetics Program at NYU Langone Perlmutter Cancer Center, says the promising results from this equivalency trial are crucial as awareness and demand for genetic testing is on the rise.

“Twenty years ago, we were looking at a handful of cancer-related genes, like BRCA1 and BRCA2, which can increase the risk of breast and ovarian cancer. Now, we might be looking at 100 different genes linked to cancer,” Chambers says. “From my perspective as a genetic counselor, there aren’t enough genetic specialists to meet the growing demand for patients who could benefit from this type of testing.”

Patients who know they have a higher genetic chance of developing cancer can be proactive in prevention, through increased screening, taking medications, using risk-reducing surgery, and changing personal behaviors.

The results of the BRIDGE trial have been published in JAMA Network Open.

The trial was co-led by Saundra Buys, MD, a Huntsman Cancer Institute investigator and professor in the U’s Department of Medicine, and Meenakshi Sigireddi, MD, an associate professor of medicine at NYU Grossman School of Medicine. Other Huntsman Cancer Institute collaborators include Wendy Kohlmann, MS, now with the U.S. Department of Veterans Affairs, Sarah Colonna, MD, Whitney F. Espinel, CGC, MS, Amanda Gammon, MS, CGC, Josh Schiffman, MD, professor of pediatrics at the U, Kensaku Kawamoto, MD, PhD, MHS, FACMI, FAMIA, professor of clinical informatics at the U, Guilherme Del Fiol, MD, PhD, FACMI, professor of biomedical informatics at the U, and David Wetter, PhD, MS, professor of population health sciences at the U. Michael Flynn, MD, adjunct assistant professor at the U, and Rachel Hess, MD, MS, professor of population health sciences at the U, also contributed to the study.

This study was supported by the National Institutes of Health/National Cancer Institute through U01CA232826, which was part of the Inherited Cancer Syndrome Collaborative, P30 CA02014; and the Huntsman Cancer Foundation.

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