For a long time, most people thought about diabetes as just two categories: type 1 diabetes and type 2 diabetes, with a handful of cases falling into an other bucket.
Yet research over the past few decades shows this disease is complex and multifaceted. Among the hundreds of millions of diabetes patients worldwide, there are a myriad of genetic mutations, biomarkers, symptoms and potential complications that can all manifest at different life stages.
Precision medicine involves customizing interventions to the unique genetic and molecular makeup of individual patients rather than relying on symptoms or broad categories.
This approach, long associated with cancer treatment, is becoming increasingly critical for diabetes prevention and care.
Precise diagnosis and disease characterization affect not only treatment choices but life planning, other health considerations, and even family members well-being. It means providing the right diagnosis, best care and insights into outcomes for all people with diabetes.
We want to eliminate guesswork from diabetes care, said Louis Philipson, MD, PhD, the James C. Tyree Professor of Diabetes Research and Care of Medicine and Director of the Kovler Diabetes Center at UChicago Medicine. Precision diabetes medicine involves understanding as much of a patients biology as possible as soon as we can ideally before prescribing treatment, in the context of their personal history and community.
UChicago Medicine faculty members including Siri Greeley, MD, PhD, Rochelle Naylor, MD, PhD, and Philipson (serving on the steering committee) recently contributed to the Second International Consensus Report On Precision Medicine In Diabetes. A consortium of more than 200 diabetes experts outlined efforts to translate current and future precision medicine research into clinical practice.
The authors celebrated clear progress, such as advancements in diagnosing specific forms of monogenic diabetes through genomic insights that lead to personalized treatment choices.
The report also identified genetic risk classification as an implementable strategy for preventing type 1 diabetes. In gestational diabetes, scientists have identified specific maternal characteristics that can help predict treatment success, allowing for tailored treatment plans.
Despite these promising areas, the report calls for improved research methods and standardized precision medicine trials to bridge existing knowledge gaps.
The report also acknowledged concerns that precision medicine as a whole should not only be for wealthy countries or individuals.
These ideas need to be translatable into any country and any kind of health system, Philipson said. Some treatments are expensive, but by using simple clinical measures to personalize treatments, we can do a lot more with what we have.
He said patients and policymakers alike can get involved in making precision medicine approaches accessible through advocacy and research funding.
Precision medicine gives us a framework that helps us ask the right questions to learn what we still need to know, said Philipson. The next generation of physicians and scientists are primed to think about heterogeneity in diabetes.
Some genetic and molecular insights are already allowing physicians and researchers to integrate precision medicine into patients diabetes care plans.
One of the most amazing interventions we have is actually no intervention at all, said Philipson.
Glucokinase maturity-onset diabetes of the young (GCK-MODY also called MODY2) is a rare subset of the disease that generally develops before age 25. A key enzyme mutation lowers the amount of insulin produced by the pancreas.
Patients with the GCK-MODY mutation have slightly elevated blood sugar levels for their entire lives. But they remain stable and healthy without treatment.
Doctors are sometimes tempted to treat the numbers on a patients chart, said Philipson. Identifying this kind of diabetes has huge implications for physicians and patients. Blood sugar doesnt necessarily have to be normal to avoid the complications of diabetes without burdensome treatment.
Similarly, another type of MODY that involves a mutation in the HNF1A gene responds well to low, inexpensive doses of an old and well-established drug. Eligible patients can often rely on this drug as their only treatment instead of insulin or other drugs.
Its a huge win when genetic tests reveal that a patient with diabetes has mutations that are uniquely treatable, said Philipson.
In some cases, proactive testing of people with family histories of diabetes can allow for preventative precision treatment for patients at risk for type 1 diabetes. The drug teplizumab, created at the University of Chicago over 30 years ago, can delay the onset of type 1 diabetes in people with specific antibodies in their blood. But it must be administered early, before the disease progresses to actual diabetes.
Early detection can make all the difference when considering the best precision medicine approach. Generations of UChicago researchers have been committed to the genetic characterization of diabetes in hopes they may provide insight for precise treatment approaches.
For example, UChicago is one of the lead centers for a large, NIH-funded study called RADIANT designed to understand atypical diabetes. The study is already yielding interesting genetic findings and more, Philipson said.
On top of precise targeting for existing drugs, research is uncovering entirely new treatments. UChicago Medicine researcher Raghu Mirmira, MD, PhD, recently co-authored a study providing preliminary evidence in favor of a new type 1 diabetes treatmentthat can be taken as a pill. The medication protects pancreas cells rather than simply replacing missing insulin.
UChicago researchers, including Greeley, have partnered with colleagues from Indiana University to evaluate the drug in a study called TADPOL.
Patients also benefit from best practices for holistic care at the Kovler Diabetes Center. Treatments have been informed by personalized medicine since the center was founded in 2006.
It stinks to have diabetes; everyone can benefit from some attention in the mental health department. For many, it can be life-changing, said Philipson.
A team of health and wellness professionals led by Executive Director Peggy Hasenauer, MS, RN, and Tina Drossos, PhD, Associate Professor of Psychiatry partner with diabetes care teams with no barriers preventing opportunities to help patients.
Diabetes educators, pharmacists and social workers are embedded within the endocrine clinic as key resources, ensuring a comprehensive understanding of insurance and medication options. These elements can play key roles in precision medicine-informed treatment plans.
Everyone, from our educators and researchers to our nurses and directors, has come together to make the Kovler Diabetes Centerthe unique place it is today, said Philipson.
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Transforming diabetes care with precision medicine - UChicago Medicine
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