Takeaways:
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The National Cancer Institute grant will fund 2DETECT, which aims to expand the identification of people who may benefit from cancer genetic testing, especially populations that have previously had less access to testing, such as rural communities.
Electronic health records will be screened for potential candidates based on family history of cancer, while a chatbot will collect additional family history information and help patients access genetic services.
- By using more clinical information, they expect to better classify poorly understood gene variants and reduce unnecessary anxiety for patients.
Impact: Expanding access to genetic knowledge and genetic testing is a key tool in cancer prevention, as knowing that someone carries a high-risk cancer susceptibility gene can allow for lifestyle changes, medical monitoring, or risk-reducing surgery.
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 the Cancer Control and Population Sciences Program, scientific advisor of the Inherited Cancer Shared Resource at 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.”
Neli Ulrich, PhD, MS
“We are building on a very successful prior trial that showed equivalence between a chatbot and the standard of care in delivering genetic testing,” says Kaphingst. “We are expanding that effort and particularly working with communities who haven’t historically had access to genetic services, like those who live in rural areas. It’s our goal to reach out to everybody to improve access to this important information through a scalable solution.”
The final project aims to make a classification system used in genetic testing more detailed and efficient. Genetic testing identifies changes in an individual’s DNA called sequence variants. Analysis of these variants can reveal three key results: benign, pathogenic, or unclassified. Benign suggests genetics will have little impact on a patient’s cancer risk. Pathogenic informs the patient they are at an increased risk and could undertake preventative measures.
“Unclassified means that we look at a sequence variant and say, maybe this is pathogenic, maybe it’s not. We just don’t know,” says Tavtigian. “Telling a patient that we noticed a variation in their DNA but can’t be sure if it’s pathogenic adds anxiety for the patients and their families and doesn’t do any medical good. With our project, we want to incorporate more clinical data that could improve how we evaluate these genetic variations.”
The research program will unfold over the next five years. Wake Forest University and the University of California, Santa Cruz are contributing institutions.
“We are committed to ensuring that scientific advances reach the people who stand to benefit from them. This award builds on years of pioneering research in cancer genetics at Huntsman Cancer Institute—where more cancer-causing genes have been discovered than at any other place worldwide—and brings this knowledge directly to the populations who need it,” says Neli Ulrich, PhD, MS, chief scientific officer and executive director of the Comprehensive Cancer Center at Huntsman Cancer Institute and professor of population health sciences at the U. “Our teams strive to develop innovative ways to help families who may carry a genetic risk, expand access to these services, including in rural communities, and move the needle through innovation and team science. We are grateful to the National Cancer Institute for supporting this important work for the people we serve in Utah, Idaho, Montana, Nevada, and Wyoming.”
The critical research happening every day at Huntsman Cancer Institute is supported by the National Institutes of Health/National Cancer Institute, including cancer center support grant P30 CA042014, as well as Huntsman Cancer Foundation.
Media Contact
Heather Simonsen
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Huntsman Cancer Institute
801 646-4120
public.affairs@hci.utah.edu
About Huntsman Cancer Institute at the University of Utah
Huntsman Cancer Institute at the University of Utah is the National Cancer Institute-designated Comprehensive Cancer Center for Utah, Idaho, Montana, Nevada, and Wyoming. With a legacy of innovative cancer research, groundbreaking discoveries, and world-class patient care, we are transforming the way cancer is understood, prevented, diagnosed, treated, and survived. Huntsman Cancer Institute focuses on delivering the most advanced cancer healing and prevention through scientific breakthroughs and cutting-edge technology to create pioneering cancer treatments beyond the standard of care today. We have more than 400 open clinical trials and more than 300 research teams studying cancer. More genes for inherited cancers have been discovered at Huntsman Cancer Institute than at any other cancer center. Our scientists are world-renowned for understanding how cancer begins and using that knowledge to develop innovative approaches to treat each patient’s unique disease. Huntsman Cancer Institute was founded by Jon M. and Karen Huntsman.