For a long time, most people thought of diabetes as just two categories: type 1 diabetes and type 2 diabetes, with a small number of cases falling into the “other” bucket.
However, research over the past few decades has shown that the disease is complex and multifaceted. Among the hundreds of millions of people with diabetes worldwide, there are countless genetic variants, biomarkers, symptoms, and potential complications that can manifest at different life stages.
“Precision medicine” involves customizing interventions to each individual patient’s unique genetic and molecular makeup, rather than relying on symptoms or broad categories.
This approach has been associated with cancer treatment for many years, but is becoming increasingly important for diabetes prevention and care.
Accurate diagnosis and disease characterization affect not only treatment choices, but also life planning, other health considerations, and even family well-being. That means providing every person with diabetes with insight into the correct diagnosis, best care, and outcomes.
“We want to take the guesswork out of diabetes care,” said Louis Phillipson, M.D., James C. Tiley Professor of Diabetes Research and Medical Care and director of the Kobler Diabetes Center at the University of Chicago School of Medicine. . “Precision diabetes medicine involves understanding a patient’s biology as early as possible, ideally in the context of their personal history and community, before prescribing treatment.”
“The right medicine, the right person, at the right time”
University of Chicago Medicine faculty, including Shiri Greeley, MD, Rochelle Naylor, MD, and Phillipson (steering committee), recently contributed to the Second International Consensus Report on Precision Medicine in Diabetes. A consortium of more than 200 diabetes experts outlined current and future efforts to translate precision medicine research into clinical practice.
The authors praised clear advances, including advances in the diagnosis of certain forms of monogenic diabetes through genomic insights that lead to personalized treatment choices.
The report also identified genetic risk classification as a viable strategy to prevent type 1 diabetes. In gestational diabetes, scientists have identified certain maternal characteristics that help predict treatment success and enable customized treatment plans.
Despite these promising areas, the report calls for improved research methods and standardized precision medicine testing to fill existing knowledge gaps.
The report also acknowledged concerns that precision medicine as a whole is not just for wealthy countries and individuals.
“These ideas need to be applicable to any country and any type of health system,” Phillipson said. “Some treatments are expensive, but by using simple clinical measures to customize treatments, we can do more with what we have.”
He said patients and policy makers alike can participate in making precision medicine approaches available through advocacy and research funding.
“Precision medicine provides a framework to help us ask the right questions to learn what we still need to know,” says Phillipson. “The next generation of physicians and scientists is poised to think about heterogeneity in diabetes.”
Precision medicine for diabetes: present and future
Several genetic and molecular insights are already enabling doctors and researchers to incorporate precision medicine into patients’ diabetes treatment plans.
“One of the most amazing interventions we do is actually no intervention at all,” Phillipson said.
Glucokinase maturity-onset diabetes of the young (GCK-MODY, also known as MODY2) is a rare subset of the disease that typically presents before the age of 25 years. Mutations in a key enzyme reduce the amount of insulin produced by the pancreas.
Patients with the GCK-MODY mutation have slightly elevated blood sugar levels throughout their lives. However, it remains stable and healthy even without treatment.
“Physicians sometimes want to deal with numbers in a patient’s medical record,” Phillipson says. “Identifying this type of diabetes has major implications for doctors and patients. Blood sugar levels do not necessarily have to be ‘normal’ to avoid complications of diabetes without intrusive treatment. ”
Similarly, another type of MODY is HNF1A Genes respond well to lower, cheaper doses of older, established drugs. Eligible patients can often rely on this drug as their only treatment instead of insulin or other medications.
“If genetic testing reveals that people with diabetes have a uniquely treatable mutation, that would be a huge victory,” Phillipson said.
In some cases, proactive testing of people with a family history of diabetes may allow for preventive and precise treatment of patients at risk for type 1 diabetes. The drug teplizumab, developed at the University of Chicago more than 30 years ago, can delay the onset of type 1 diabetes in people who have certain antibodies in their blood. However, it must be administered early, before the disease progresses to actual diabetes.
Early detection makes a big difference when considering the best precision medicine approach. For generations, researchers at the University of Chicago have been working to characterize the genetics of diabetes in the hopes of providing insight into precise treatment approaches.
For example, Chicago is one of the leading centers in a large NIH-funded study called RADIANT designed to understand atypical diabetes. The study has already yielded some interesting genetic findings, Phillipson said.
In addition to precisely targeting existing drugs, research is discovering entirely new treatments. University of Chicago Medical researcher Raghu Mirmila, MD, recently co-authored a study that provides preliminary evidence in support of a new type 1 diabetes treatment that can be taken as a pill. This drug protects pancreatic cells rather than simply replacing missing insulin.
Researchers at the University of Chicago, including Greeley, partnered with colleagues at Indiana University to evaluate the drug in a study called TADPOL.
Diabetes treatment at the University of Chicago School of Medicine
Patients also benefit from Kobler Diabetes Center’s comprehensive care best practices. Since our center was established in 2006, we have been providing treatment using personalized medicine.
“Being diabetic stinks. Everyone can benefit from the attention of the mental health sector. For many people, it can be life-changing,” said Phillipson. .
Our team of health and wellness experts, led by Executive Directors Peggy Hasenauer, MS, RN, and Tina Drosos, PhD, Associate Professor of Psychiatry, partner with diabetes care teams without blocking opportunities to help patients.
Diabetes educators, pharmacists, and social workers are integrated into the endocrine clinic as key resources to ensure a comprehensive understanding of insurance and medication options. These factors can play an important role in a medically-based precision treatment plan.
“From our educators and researchers to our nurses and directors, everyone has worked together to make Kobler Diabetes Center the unique place it is today,” Phillipson said.
