BOSTON – The time is ripe for gastroenterologists to embrace personalized medicine, a leader in the genomics industry said at the 2016 AGA Tech Summit, which is sponsored by the AGA Center for GI Innovation and Technology.

Personalized medicine has made the most inroads in oncology, but there are compelling reasons for GI experts to get involved as well, said Mara Aspinall, executive chair of the computational genomics company GenePeeks, and president and CEO of Health Catalysts, a firm dedicated to the growth of new healthcare companies.

Virtually all aspects of gastroenterology today are emerging as fertile ground for genomic stratification of patients, Ms. Aspinall said. Inflammatory bowel disease is the first area where there already has been much work done on genomic polymorphism and how differences between patients’ disease progression can be explained, she said, and drug dosing is the first “low hanging fruit” in the area.

In addition, new areas of research can be viewed as opportunities for GI, Ms. Aspinall said. One example is the microbiome: “That’s a cutting-edge area where GI specialists can look to understand the current learning and translate them into the unique impact on their patients.” Another area is the increasingly important role of nutrition in managing patients with everything from metabolic disease to cancer. Nutritional analysis and advice has traditionally been delegated to dietitians more than gastroenterologists, but Ms. Aspinall said she believes personalized medicine in its broadest form will take the shape of using food as drugs, which puts it in GI’s wheelhouse.

Furthermore, there is much more work to be done on the gastrointestinal causes and consequences of immunological diseases, which have been understudied and underdeveloped, she said, looking in particular at patient populations at risk: children, whose immune systems and GI tracts are closely related; and women, who account for the vast majority of immune disorders such as allergies, multiple sclerosis, or lupus. “What role can the GI doc play in better diagnosis and treatment?” Ms. Aspinall said.

Over the past 50 years, the history of medicine has really been a story of diagnostics emergence, Ms. Aspinall said, including the growth of imaging, MRI, PET scans, molecular technologies, and sequencing. “We look at diagnostics as the bridge between theory and therapy,” she said.

“The headlines have been all about the new drugs and new procedures,” she said. “While that’s important, I would argue that it’s not as important as the change in diagnostics. A patient has nothing without an accurate and timely diagnosis.”

Ms. Aspinall said she sees a wider role for the field: “We need to define gastroenterology in a broader context in order to capture personalized medicine.” GI experts should start collecting data on patients’ outcomes, family histories, and complication rates as a start, she said, to look for patterns that could inform improved treatment regimens – particularly in light of genomic differences in those patients. “The reality is you’re probably not helping today’s patients but you will help patients 5 years from now,” she said.

“Cancer treatment today is organ-based,” said Ms. Aspinall. She predicted that in the not-too-distant future, cancer treatment will move more toward pathway-based treatments, as treatment is guided more and more by genetic polymorphisms.

The plummeting cost of genome sequencing is a key development that holds great promise for gastrointestinal cancers, said Raju Kucherlapati, Ph.D., who also spoke about personalized medicine in gastrointestinal cancers. Dr. Kucherlapati, a professor of genetics at Harvard Medical School and the Brigham and Women’s Hospital, Boston, said that sequencing tumor DNA is leading to risk stratification and targeted therapy in ever-increasing numbers of cancer types.

It turns out that many gastrointestinal cancers have mutations that are shared by other cancers, meaning that already-approved therapies may work for some patients with GI cancers, said Dr. Kucherlapati. For example, about 4% of colorectal cancers have amplifications of the ERBB2 gene, meaning that these patients could benefit from trastuzumab (Herceptin). “One of the aspects that’s remarkable is that drugs are already available for many of these targets, reducing the costs and time tremendously,” said Dr. Kucherlapati.

Where will this lead? The nomenclature of cancer is changing to the point where patients and their physicians in the future won’t say they have colon cancer or lung cancer but instead talk of EGFR cancer or c-KIT mutation cancer, Ms. Aspinall said: “If that happens in cancer, I am confident that it will be relevant to other specialties as well.”

In the panel discussion following the morning’s presentations, Dr. Michael Camilleri, AGA president and professor of medicine at Mayo Medical School, Rochester, Minn., agreed that a focus on personalized medicine makes sense in the GI space. “I love the idea that we need to focus on one or two big ideas,” and linking genotype to patient phenotype to target therapy should be one of them.

Ms. Aspinall and Dr. Kucherlapati reported no relevant financial disclosures.

Gastroenterology is fertile ground for personalized medicine