A research team from Huntsman Cancer Institute at the University of Utah (the U) has received an $8.3 million grant from the National Cancer Institute for a multidisciplinary project aiming to expand access to genetic testing, a powerful but vastly underused tool in cancer prevention and care. 

“Around 1% of the population, millions of people, carry a high-risk cancer susceptibility gene,” says Sean Tavtigian, PhD, director of the Center for Cancer Genetics at Huntsman Cancer Institute, professor of oncological sciences at the U, and contact principal investigator of the project. “If individuals know they carry a gene while they’re still healthy, there are often lifestyle, medical, and surgical approaches that can prevent or intercept their cancers.”

Tavtigian received the prestigious Research Program Project (P01) grant alongside Guilherme Del Fiol, MD, PhD, FACMI, investigator at Huntsman Cancer Institute, co-director of the Digital Health Initiative, and professor and vice chair for research in the Department of Biomedical Informatics at the U, and Kimberly Kaphingst, ScD, director of cancer communication research, co-leader of theCancer Control and Population Sciences Program, scientific advisor of the Inherited Cancer Shared Resourceat Huntsman Cancer Institute, and distinguished professor of communication at the U.

P01 grants are awarded for a team leading multiple projects arranged around a single investigative focus. Tavtigian, Kaphingst, and Del Fiol’s research, titled 2DETECT, has three component parts.

Part one aims to improve how health care systems use AI-based algorithms and electronic health records to identify patients eligible for genetic testing based on their family history of cancer. The project will develop and enhance algorithms to run against electronic health record data to find eligible individuals at scale rather than on a case-by-case basis. The researchers believe advances in responsibly used AI will allow them to expand availability of appropriate genetic testing across all demographic groups.  

“Not everyone who has a family history of cancer would benefit from or is eligible for genetic testing. The criteria are very complicated, and primary care physicians need easy-to-access information to support their decision-making,” says Del Fiol, who is also a principal investigator for the project. “We want to take the complexity away from the busy primary care environment and have that done automatically so we can find the patients who may benefit and reach out to them through a chatbot offering education and access to at-home genetic testing.”

The second component will evaluate how the chatbot interacts with patients to both collect missing family history and follow through on completion of genetic services. Patients are often prompted for family cancer history during primary care appointments, but they may not know the details needed to determine testing eligibility. An AI-powered chatbot based on GARDE-Chat, a health care chatbot development platform developed by Del Fiol and Kensaku Kawamoto, MD, PhD, MHS, researcher at Huntsman Cancer Institute and chief health AI transformation officer and professor of biomedical informatics at the U, will prompt patients to fill out more information after they have had a chance to speak with relatives. The chatbot will initially be available in English and Spanish and is designed to support deployment in multiple additional languages, enabling the research team to expand access to patient populations.

The study will compare two groups—one that is contacted by the chatbot and a patient navigator and another that will interact with the chatbot alone.

“Our teams strive to develop innovative ways to help families who may carry a genetic risk and expand access to these services, including in rural communities.” 

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