The Genetics of Colorectal Cancer: Q and A with Cancer Prevention Leader Daniel Sussman
The Sylvester Comprehensive Cancer Center gastroenterologist guides patients and families who may have genetic cancer risks.
Colorectal cancer is the third most common cancer in the United States. But many colorectal cancers have a lesser-known cause: genetics.
As leader of the gastroenterology high-risk prevention clinic at Sylvester Comprehensive Cancer Center, part of UHealth — University of Miami Health System, Daniel Sussman, M.D., helps patients who may have genetic risks for colorectal cancer.
Dr. Sussman, professor and interim chief of the Division of Digestive Health and Liver Diseases at the University of Miami Miller School of Medicine, discusses his work in the following interview, which has been edited for length and clarity.
How does Sylvester’s gastroenterology high-risk prevention clinic help patients?
We help identify people who are at increased risk for cancer, and once somebody is deemed to be at increased risk, we facilitate genetic testing to see if there is a heritable cause for that cancer. Whether or not a heritable cause is found, we help put together a personalized cancer prevention plan for patients. We also try to provide implications for family members, to try to bring them to clinical attention, as well, before cancer occurs.
March is Colorectal Cancer Awareness Month. What should people know about the role of genetics in colorectal cancer risk?
As the field of genetics has evolved, we’re finding more and more that there is a role for genetics in colorectal cancer. Part of that role is identifying genetic problems in the tumors themselves and the implications that they might have for treatment. But most of what I do involves looking for what is called germline or heritable causes of colorectal cancer.
It turns out that somewhere between 5% and 10% of colorectal cancers are actually related to a heritable cause. Another approximately 20% of them are a familial cause, meaning that colorectal cancers are common in a family for some reason without a yet-identified genetic disorder.
Frequently, if a genetic cause is found, it has several implications, both for a patient and their family. Getting diagnosed with that genetic cause changes the timing of when colorectal cancer screening gets initiated, and the frequency with which the screening or surveillance exams occur. These genetic tests may also identify other cancer types for which a family is at risk.
What motivated you to study cancer prevention?
For some strange reason, I’ve always been intrigued by cancer. When I was in my internal medicine training, I thought I was going down the track of being an oncologist. But when I got into the details, I realized that I was more interested in trying to prevent cancer from happening, rather than treating it once it’s happened.
The field of gastroenterology fits the bill. A lot of what we do on a day-to-day basis, and many of the procedures we perform, are actually for the intent of preventing cancer or risk-stratifying people for the purpose of preventing cancer or finding cancer at an early stage.
What role do you think AI tools will play in the future of cancer prevention?
AI has great potential in the medical field. We’re still at this early stage where it’s not yet being used to its full potential. AI does a great job at making observations with complex data sets that humans aren’t yet capable of.
One of the features that AI has a future role for is scouring medical charts to identify people who are at increased risk for cancer, who may not yet be aware or are out-of-date with their planned screening or surveillance tests for colorectal cancer.
In our study, we were able to train an AI tool to recognize important features and characteristics from colonoscopy reports and the associated pathology reports when polyps were removed. The AI software could make accurate recommendations for subsequent surveillance colonoscopies that were in line with the recommendations of our national societies.
We collaborated with colleagues at Penn and some tech professionals to train the tool. We validated it in a separate cohort of patients, and we were able to show that the AI tool could predict surveillance intervals pretty accurately, particularly in situations where the colonoscopist and pathologist had given clear, detailed reports of what they had found during their examinations.
What do you enjoy in your free time?
I enjoy being with my family, especially my twin daughters, who are turning 9 next month. I like taking them to their activities. Right now they’re both into playing basketball, so I enjoy going to their games.
Tags: AI, artificial intelligence, cancer genetics, cancer research, colorectal cancer, Division of Digestive Health and Liver Diseases, Dr. Daniel Sussman, gastroenterology, genetics, Sylvester Comprehensive Cancer Center, technology