Elizabeth Spencer, MD: Precision Medicine in Pediatric IBD

With 21st century-advances to screening, diagnostics and targeted therapies, precision medicine is a an ambitious yet tangible goal across a number of chronic diseases.

In an interview with HCPLive during the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) 2023 Annual Meeting in San Diego this week, Elizabeth Spencer, MD, assistant professor of pediatrics in the division of pediatric gastroenterology at Icahn School of Medicine at Mount Sinai, discussed the many recent advances in pediatric irritable bowel disease (IBD) precision medicine.

“We're really sort of on the cutting edge right now,” Spencer said. “Over the last couple of years, we've started to really focus on picking the right therapy for the right patient because there are so many more therapies now for inflammatory bowel disease."

Spencer highlighted her involvement in research of allele group human leukocyte antigen (HLA)-DQA1*05, a genetic variant found to confer risk for developing antibodies against tumor necrosis factor (TNF) inhibitors like infliximab and adalimumab.

“I was able to show that actually, when you use the most common thing that pediatricians use—which is where they proactively adjust the dose to the patient, so they really fit their little and big patients with the right dose—you don't actually need to look at that variance so much, because it doesn't seem to confer risk when you get the dose right,” Spencer explained.

Spencer additionally highlighted the recent “explosion in other biomarkers” that may help inform biologic treatment strategies via assay results.

“I think our patients and all of us are going to be really excited that we don't have to sort of blindly choose medicines any longer in the future,” she said.

While the portfolio of IBD treatment is now expansive across multiple drug classes for both adult and pediatric patients, younger patients are processed through a more deliberate treat-to-target strategy. Spencer explained that improved livelihood and improved labs are still the main priorities of IBD care, but other factors are also closely monitored.

“We want them to grow again—they really need to be growing like their peers,” Spencer said. “And fourth, it's really rising in popularity, but we look for intestinal ultrasound healing. It can really tell us if a patient is responding at the level of the tissue, because we can see if all the layers of the wall healed.”

Spencer also discussed the modern care team that which reflects precision medicine strategies in pediatric digestive disease, emphasizing the importance of multidisciplinary, processing, and holistic roles alongside clinicians.

As for next steps to advance precision medicine further, Spencer stressed the need to continue refining treat-to-target methodology for the sake of patients and their parents alike.

“And then beyond that, we just have limitations that are not physician-created,” Spencer said. “Even if we can pair the right patient with the right medicine, if their insurance says we can't use that medicine, that's a problem. So, I think that we need to do advocacy at the same time as we do the science to make sure that once the science is caught up, we're not limited by societal factors.”