Can Improving Access to Genetic Testing Help Accelerate Personalized Care?
Nearly 52,000 Americans will die from pancreatic cancer this year, according to the American Cancer Society. Pancreatic cancer trails only lung and colorectal cancers as the deadliest malignancy. A group of researchers at Moffitt Cancer Center believes that genetics could hold the key to driving the number of deaths down, but not enough people living with pancreatic cancer are undergoing germline genetic testing.
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Jennifer Permuth, PhD, a cancer epidemiologist and vice chair of research in the Department of Gastrointestinal Oncology at Moffitt, is senior author on a study the hopes to change that.
“National guidelines recommend genetic testing for all people living with the most common type of pancreatic cancer called pancreatic ductal adenocarcinoma,” Permuth said. “But less than 10% of such individuals actually undergo testing. This information can be important for treatment decisions and has implications for blood-related family members.”
Permuth points to two major barriers for testing: underreferral and a shortage of licensed genetic counselors.
The goal of the study, presented at the 2024 American Association for Cancer Research annual meeting, is to improve uptake of genetic testing among patients with pancreatic cancer through easy-to-use technology.
The Genetic Information for Treatment Decisions (GIFTD) initiative at Moffitt Cancer Center was launched in the fall of 2023 by Permuth and licensed genetic counselors Laura Barton and Revathy Suresh, in partnership with Dr. Susan Vadaparampil, associate center director of Moffitt’s Office of Community Outreach, Engagement and Equity. The goal of GIFTD is to streamline education and testing for people with pancreatic cancer. A Genetic Risk Education Coordinator (GREC) trained by genetic counselors was hired to identify eligible patients and facilitate testing during clinic appointments.
In partnership with Nest Genomics, headquartered in New York, a digital point-of-care tool was developed to collect personal and family history information, provide education about genetic testing and assess interest in the tests. Patients are sent a hyperlink ahead of their appointment inviting them to provide information and review education materials.
A report is automatically generated and shared with the Genetic Risk Education Coordinator to measure the person’s interest level in genetic testing.
“This method was endorsed by our team because it caters to the needs of our patients. We wanted an approach that is user friendly, convenient and expedites obtaining genetic test results that may influence one’s care,” Permuth said.
Over a 16-week launch period, 184 people were invited to try the Nest tool. Of 129 who opened the link, 112 (87%) logged into their Nest account. Of these patients who logged in, 81 (71%) completed the genetic testing education, with most indicating interest in pursuing genetic testing or learning more about it. Additionally, there were two patients who initially indicated that they were not interested in genetic testing in Nest but later changed their mind after meeting with the Genetic Risk Education Coordinator. Ultimately, 52 of 72 individuals who met with the coordinator have undergone genetic testing with an average turnaround time of 18 days from the time of the initial meeting to reporting of results.
Actionable findings (defined as contributing to an inherited cancer susceptibility or opportunity for targeted therapy/trial) have been reported in 10.8% of patients who have undergone genetic testing after receiving education through Nest and meeting with the Genetic Risk Education Coordinator.
“Moffitt’s collaboration with Nest Genomics through the Genetic Risk Education Coordinator has successfully facilitated prompt germline genetic testing for pancreatic cancer patients,” Permuth said. “This aids in informed treatment decisions and family screening. We believe this tool successfully captures patients who may be interested in genetic testing, and we’re hopeful that follow-up with the education coordinator can increase testing rates even further. Funding is needed to continue this important work for patients with pancreatic cancer and expand to other gastrointestinal disease sites (such as young-onset colorectal cancer) where national guidelines also exist for genetic testing.”
