March is National Colorectal Cancer Awareness Month
According to the American Society of Clinical Oncology, Lynch syndrome—also known as hereditary non-polyposis colorectal cancer—is one of the most common hereditary cancer syndromes.
Those with Lynch syndrome have a significantly greater risk than others in the general population of developing colorectal cancer. They are also at increased risk of a variety of cancers, including endometrial, stomach, breast, ovarian and pancreatic. These cancers tend to occur at a younger-than-average age.
Dr. Deborah Cragun, assistant professor of global health and director of the Genetic Counseling Program at the USF College of Public Health, is expanding on her doctoral work—she earned her PhD at USF in 2013—that examined disparities in the screening of colorectal tumors for Lynch syndrome.
She is a co-investigator—the only one at USF—working on a National Cancer Institute (NCI) grant to develop and test a toolkit to increase the number of institutions that are routinely screening for Lynch syndrome and to improve implementation processes to maximally benefit patients.
“Screening colorectal tumors for Lynch syndrome is all over the place right now,” she said. “There is no systematic approach, and a lot depends on the individual institution. We know from research that patients are falling through the cracks. They are not getting diagnosed and their family members are not getting identified. In order to prevent cancers, we need to find these patients and get them colonoscopies earlier and more often.”
Because it involves coordinated care, universal screening of colorectal tumors for Lynch syndrome can be problematic, acknowledged Cragun.
“It’s challenging because it requires a lot of expertise and a lot of people talking to each other and working together. You have to get pathology at the institution on board,” she said. “You also have to have all the oncologists, GI oncologists, surgeons and genetic counselors on board. And then you have to agree on how you will follow up with patients and what sort of tracking system will be in place.”
Through her dissertation work, Cragun had already discovered that screening the tumors and following up with patients who test positive for Lynch syndrome is hit or miss at best.
“My research found that at some hospitals, less than 10 percent of the patients who screened positive for Lynch syndrome were getting follow-up testing. And at another hospital, the number was 85 percent,” she said. “With this grant, we are going to extend the research and look at the characteristics of high- and low-performing institutions. We really are going to be doing a lot of work interviewing people at places where there is no screening.”
According to the National Institutes of Health, “Implementation of Lynch syndrome screening in healthcare systems remains suboptimal, despite the fact that systematic screening of all colorectal tumors for Lynch syndrome was first recommended by the Evaluation Genetic Application in Practice and Prevention (EGAPP) working group in 2009 and has been designated high priority by the National Academies of Science, Engineering, and Medicine working group and by the Blue Ribbon Panel.”
The Blue Ribbon Panel is a group of scientific experts convened to help shape and guide Vice President Joe Biden’s Cancer Moonshot initiative.
Cragun will also be exploring what she calls “the patient piece,” specifically examining how patients might want to receive the news they’ve tested positive for Lynch syndrome.
“One reason we think some institutions are less effective at screening is because each provider—who already has competing demands—is charged with following up with his or her patient,” she said. “There is no centralized person who is calling patients to make sure they get their follow-up testing. So we will ask patients, ‘How would you feel about getting the call from your doctor? How about from a genetic counselor?’ How would you feel about the tumor getting sequenced? Would you want to give your consent for that? What would that consent look like?’”
Cragun has already helped develop a step-by-step screening implementation tool. Next, she and her colleagues are attempting to evaluate and improve upon it so it can be implemented across multiple health care systems.
“We’re trying to figure out what the best practices are and how to overcome some of the barriers we’ve identified,” she said. If we aren’t getting patients and their families in for follow-up testing and counseling so they know what to do about Lynch syndrome, then screening does no good.”
Story by Donna Campisano, USF College of Public Health