The Role of Genetics in the Management of Patients with Gastrointestinal Cancer

At the 2023 Great Debates & Updates in Gastrointestinal Malignancies in Chicago, regional co-chair Sonia Kupfer, MD, University of Chicago, IL, discussed the significant part that genetics play when treating patients with gastrointestinal cancers.

Transcript:

My name is Sonya Kupfer. I'm an associate professor in the section of gastroenterology at the University of Chicago, and I direct the GI Cancer Risk and Prevention Clinic. I am the regional co-chair for 2023 Great Debates and Updates in Gastrointestinal Malignancies in Chicago. I'll be giving a talk about the significance of cancer genetics at this meeting, and I think the precision oncology and precision medicine and cancer is here. It's now. It's no longer the future. The next step is how we can integrate cancer genetics, both germline and somatic, into practice, and how we can also make that equitable, not just for something that's available to few, but really make it available to as many people as possible. Part of that is understanding what we're doing with precision medicine, and specifically germline and somatic sequencing, and how best to interpret those results and then how best to apply them. We've heard at this meeting already a number of applications for somatic testing.

Something that I do every day in practice is to evaluate individuals who are at high-risk for GI cancers based on their germline genetics. That also can have implications for treatment. I've seen that firsthand how that can really change once we know what therapies someone would be eligible for and really have seen some fantastic responses in some of my patients.

The future in this space is really, again, to make it accessible and understandable to the broad community and not have this be only available to a few individuals and a few patients. We've heard at this meeting, and we know that there definitely are disparities, and one of the things that I am passionate about is figuring out how we can bridge those disparities. Some of that has to do with providers remembering or having recall systems to order testing.

For example, at our institution, we found that our pancreatic cancer patients were not getting NCCN based recommendations to have germline genetic testing. We noted that there were differences by race among our patients in terms of getting that testing. The future is how can we overcome those disparities? We've had some great examples at this meeting of potential ways in which we can do that, which leverage telehealth, for example, but that's going to be what we need to do moving forward.

The other thing to look forward to in the future is sometimes people criticize precision medicine, that there's a bit of hype there because it only applies to a small percentage of patients. Of course, for those individuals it can be life-altering and lifesaving. But our task is to try and get that bigger piece of the pie where maybe we don't know what therapies, targeted therapies those individuals would be eligible for.

The future is in identifying more targets, understanding how we can better target certain mutations, the spectrum of mutations. Personally, I think also continued work on identifying those at highest risk. And that may be through somatic testing. We can understand something about the germline as well. Once we've identified those individuals, of course they have a whole family that is going to be at risk. How can we get that what we call cascade testing in motion? Those are the things that I see moving forward, both on the treatment side, but also on the identification of high-risk individuals.

Source:

Kupfer S. “Significance of Cancer Genetics.” Presented at: Great Debates and Updates in Gastrointestinal Malignancies; March 30-April 1; Chicago, IL