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HomeHealthChatbots: Pioneering the Future of Genetic Testing for Cancer Risk

Chatbots: Pioneering the Future of Genetic Testing for Cancer Risk

Demand for cancer genetic testing is increasing, but there aren’t enough genetic counselors available to support patients through the process. Researchers are suggesting that chatbots could provide an effective solution.
A study conducted by the Huntsman Cancer Institute at the University of Utah (the U) and NYU Langone Perlmutter Cancer Center revealed that a specialized chatbot can efficiently aid patients in determining whether they should undergo genetic testing. This offers a valuable alternative to conventional genetic counseling.

Kimberly Kaphingst, ScD, who is the research director of the Genetic Counseling Shared Resource and co-director of the Cancer Control and Population Sciences Program at Huntsman Cancer Institute, and also a professor of communication at the U, believes that findings from the BRIDGE (Broadening the Reach, Impact, and Delivery of Genetic Services) trial could broaden access to genetic care for more patients.

The American Cancer Society notes that inherited genetic changes might cause up to 10% of all cancer cases.

“A significant number of individuals have inherited cancer syndromes, but most remain unaware,” states Kaphingst. “As we improve our ability to identify those who need genetic testing, our team is eager to develop sustainable and comprehensive methods to provide these genetic services.”

The usual procedure for genetic testing consists of two appointments. During the first meeting, patients consult with a genetic counselor to review their family history and discuss the risks, benefits, and limitations of the test. If the patient chooses to go ahead with the testing, they schedule a second appointment to go over the results with the counselor.

In the BRIDGE trial, researchers employed an algorithm to identify patients at elevated risk for inherited cancer syndromes based on their self-reported family health information.

The study involved over 3,000 participants from Utah and New York, divided into two groups: one followed the standard two-appointment model, while the other interacted with a chatbot created to deliver genetics education instead of having an in-person pre-test counseling session.

Participants in the chatbot group received a notification via MyChart, an online patient health portal, recommending genetic services along with a link to initiate a chatbot conversation. They then accessed information on genetic testing and could ask questions to help them decide whether to proceed with testing.

The findings indicated that both groups had similar outcomes in completing genetic testing, suggesting that a chatbot can be a valid alternative to the traditional model.

“Our aim wasn’t to determine if the chatbot was superior or inferior; we were exploring whether this could be an additional model for providing genetic services with comparable outcomes. For many individuals, the chatbot offered sufficient information,” explains Kaphingst. “The chatbot can alleviate some of the pressures on genetic counselors and make genetic testing accessible to a greater number of eligible patients.”

Rachelle Chambers, MS, CGC, a researcher, and genetic counselor at NYU Langone Perlmutter Cancer Center, emphasizes the importance of the positive results from this equivalency trial, especially as public awareness and demand for genetic testing continue to grow.

“Two decades ago, we focused on a few cancer-related genes, such as BRCA1 and BRCA2, which are associated with heightened risks for breast and ovarian cancer. Nowadays, we might evaluate over 100 different genes linked to various cancers,” remarks Chambers. “From my viewpoint as a genetic counselor, there aren’t enough specialists available to meet the growing demand from patients who could benefit from this testing.”

Knowing they are genetically predisposed to cancer enables patients to take proactive steps in prevention, including increased screening, medication, surgeries to mitigate risk, and lifestyle adjustments.

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

The trial was co-directed by Saundra Buys, MD, an investigator at Huntsman Cancer Institute and a professor in the medicine department at the U, along with Meenakshi Sigireddi, MD, an assistant professor of medicine at NYU Grossman School of Medicine. Additional contributors from the Huntsman Cancer Institute 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, a pediatrics professor at the U; Kensaku Kawamoto, MD, PhD, MHS, FACMI, FAMIA, a clinical informatics professor at the U; Guilherme Del Fiol, MD, PhD, FACMI, a biomedical informatics professor at the U; and David Wetter, PhD, MS, a professor of population health sciences at the U. Michael Flynn, MD, an adjunct assistant professor at the U, and Rachel Hess, MD, MS, a professor of population health sciences at the U, also contributed to this research.

This study was funded 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.