Cutting-edge ‘precision medicine’ shows great potential to improve diabetes care

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Cutting-edge “precision medicine” has great potential to advance the diagnosis, treatment and eventual prevention of various types of diabetes, an international alliance of scientists reports in a comprehensive assessment of the state of the field around the world.

A groundbreaking new international report looks at the potential of “precision medicine” to improve diabetes care. Image credit: UVA Health

The new international “consensus report” was compiled by more than 200 experts from 28 countries, reviewing the published scientific literature. It highlights areas where precision medicine has already transformed diabetes diagnosis, prevention, treatment and monitoring. But it also serves as a roadmap for the future, identifying areas where research is critically needed and recommending actions that can be taken immediately to improve patient care.

“The work of this international consortium has spanned more than three years, through an entirely volunteer effort, to determine where precision diabetes medicine works and, more importantly, what the gaps in knowledge and barriers to implementation are,” said Stephen S. Rich, Ph.D., of the University of Virginia School of Medicine. Co-chair of the Precision Medicine in Diabetes Initiative (PMDI) who prepared the report. “Diabetes is a heterogeneous disease, and the classical definition of type 2 diabetes, for example, is overly simplistic and leads to problems of diagnosis (is it really type 2 diabetes?), treatment (which drug is best to achieve normal blood sugar), or behavioral changes, e.g. Is increased exercise and/or improved diet enough?), and prognosis (is there an increased risk of heart disease, kidney disease or other complications of diabetes that require more intensive follow-up and monitoring?) Critically, we need to develop an understanding of the diversity of diabetes that can be applied globally. Can, and not just for well-off countries and groups.”

Diabetes is about precision medicine

Personalized medicine is tailored to the individual rather than providing the same treatment for everyone, as has traditionally been the case. This method is mostly known in cancer research, where individual treatment is prescribed for each individual. In contrast, precision medicine is based on identifying groups of people with similar disease characteristics and similar responses to treatment and risk of complications. Precision diabetes medicine incorporates information about a person’s genes, lifestyle and other factors to ensure each person receives the care that will work best for him or her. The result of precision medicine is increasing the ability of personalized medicine to have the right effects and improved outcomes, tailored to each individual.

To determine where precision medicine in diabetes stands and its potential, the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD) convened the Precision Medicine in Diabetes Initiative in 2018. The initiative’s new consensus report – its second – shows important progress in implementing the approach. For example, precision medicine plays an essential role in the diagnosis and treatment of many types of monogenic diabetes (a type of diabetes caused by a single gene mutation, which represents 2%-3% of all types of diabetes), thanks to major advances in genetic testing. .

“In the case of monogenic diabetes, precision medicine holds great promise because a person can use genomics to make a very precise diagnosis, which guides treatment choices,” said Paul Franks, PhD, report chair and scientific director of medical sciences and translational at the Novo Nordisk Foundation. of medicine.

Although all forms of diabetes have a genetic basis, it is only in monogenic forms of diabetes that a known single mutation can provide a definitive diagnosis and optimal treatment plan; Other forms of diabetes have many genetic variations and non-genetic factors that contribute to risk.

Near-term applications for precision medicine

Precision medicine also shows potential in managing gestational diabetes, a diabetes that can occur in mothers during pregnancy and increases the risk of type 2 diabetes in both mother and child, the report noted. Certain maternal characteristics have been identified as predictive factors for treatment success or failure, including age, body-mass index (BMI) and family history of diabetes.

In terms of preventing type 1 diabetes, the report identifies genetic risk classification as the most promising area for immediate clinical implementation. Recent work by UVA researchers led by Rich has identified 90% of the genetic risk for type 1 diabetes. With this information, doctors can look at children’s genetic risk to see if they are more likely to develop type 1 diabetes. In those at highest risk, doctors can screen for the presence of islet autoantibodies, which indicate that the immune system is attacking the body’s insulin-producing beta cells; This may allow the induction of important immune interventions.

For type 2 diabetes, the consensus report presents evidence that routine clinical features can predict and help predict how well different drugs work in treating the condition. The report also suggests how this common form of diabetes (about 90% of all diabetes) can be sub-classified into more specific subtypes.

While the consensus report highlights areas where precision medicine can improve clinical practice, it also draws attention to research gaps and the need for improved research methods.

A series of knowledge gaps were identified by experts that cut across all types of diabetes. It became clear that published results were mainly among people of European Caucasian ancestry, from well-off countries, and often did not provide strong statistical support for their findings. Consequently, further work is needed in diverse populations to include the use of multiple data sources, development of scalable and inexpensive assays for biomarkers, understanding of both clinical and social/behavioral factors, and consideration of diabetes across the lifespan.”

Rich, Center for Public Health Genomics and the Department of Public Health Sciences, UVA

Results are published

Franks presented the main findings of the consensus report at the EASD annual meeting in Hamburg, Germany this month. The report is published Nature’s medicine To coincide with the EASD Symposium. Concurrently, summary systematic evidence reviews are being published in consensus reports Communication MedicineAnd a parallel series of papers on precision medicine will be published Lancet Diabetes and Endocrinology.

The project was supported by the American Diabetes Association, the European Association for the Study of Diabetes and the Novo Nordisk Foundation.

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