Personalized medicine for diabetes | We are patients

Thanks to personalized and precision medicine, as well as enormous advances in new technologies and science, we are witnessing paradigm shift in diabetes. This became known during XXXV National Congress of the Spanish Diabetes Society (SED) will take place in Granada from 10 to 13 April.

Care for people with diabetes is moving from a diagnostic model that has changed little in recent decades to precision medicine approach where genomics is fundamental»as he emphasizes Dr. Jesus BlancoCoordinator of the SED Genetics Working Group and co-responsible for the pre-congress course on the genetic and epigenetic basis of personalized and precision diabetes.

T2DM has become a disease with enormous impact on our healthcare system. Although a weight or fat reduction approach is considered the most practical tool to address this problem, “We have more and more data to suggest that We are close to incorporating more personalized approaches into our daily which dietary, physical activity and pharmacological recommendations correspond to aspects of genetic predisposition.”– Dr. Blanco assures, although he admits that, for example, “We have not yet implemented precision nutrition intervention widely in our clinics, but the evidence is starting to be compelling.”.

Regarding knowledge about the genetic aspects of diabetes, gene HNF1A was erected in promising therapeutic target. “The role of this gene, both in the occurrence of monogenic diabetes (which is characterized by a specific genetic defect that causes the disease) and in T2DM, continues to provide us with the most interesting data,” points out the coordinator of the Genetics Group. The SED, which believes this a very striking example of the clinical overlap between different forms of diabetesand this helps us strengthen the idea finally overcome the categorization of diabetes into boxes diagnoses waterproof; without a doubt this is It’s near the end.”.

Education is the key to solving this revolution

Faced with this situation, diabetes experts recognize the growing need for training in these areas, which is the main purpose of this pre-congress course, where it has been proven how precision nutrition may help in the treatment of type 2 diabetes mellitus (T2DM), the genetic basis underlying the manifestation of this disease in young people without obesity has been analyzed, fine line between monogenic diabetes and T2DMThe genetic aspects of other forms of diabetes (such as gestational diabetes and T1DM) were highlighted, as well as practical clinical aspects of diagnosing and treating people with monogenic diabetes. The course concluded with a practical discussion involving three pairs of professionals (an endocrinologist and a genetics expert) who provided advice on defining the basic quality standards for a good genetic report.

Patients benefit first about the contribution of more personalized medicine with more accurate diagnosis and treatment that is better suited to each patient, is more effective and minimizes side effects.”points to Doctor Sara Garcia Serrano, co-director of the pre-congress course and secretary of the genetics group. So he goes on to say: Specialists are required to undergo continuous training in this field, with courses such as this one, which are necessary and almost mandatory for updating and refining our knowledge.”.

Regarding possible clinical benefit polygenic risk scoresare now being accepted as a further step in application of genomics in the treatment of diabetes. These assessments provide a practical and generalized way of applying data from genomic research to clinical practice. As Dr. Jesus Blanco predicts, “It is possible that within a short time we will be able to use these scales to diagnose the most common forms of diabetes, such as T1DM and T2DM.”.

Towards T2DM and gestational diabetesattention was drawn to the fact that separate pathophysiological elements and in fact, “we might consider “Gestational diabetes as a form of pre-T2DM”according to Dr. Blanco.

The problem of monogenic diabetes

Regarding monogenic diabetesgreat forgotten»According to Dr. Garcia Serrano, the main problem is underdiagnosisespecially because they are often confused with T1DM or T2DM.. “Thousands of people with monogenic diabetes in Spain have been mistakenly classified as T1DM or T2DM, so we are missing a great opportunity for precision treatments and family genetic counseling.”emphasizes Dr. Blanco.

This type of diabetes is estimated to account for 2 to 5% of all diabetes cases., but only a percentage of them will be correctly diagnosed. In recent years, with increasing genetic research, New genetic variants associated with this disease have been discovered; However, as Dr. Garcia Serrano warns, “When interpreting them, it is important and necessary to have specialized clinical resources and health care professionals capable of interpreting these new data and cases.”.

From a clinical point of view, Accurate diagnosis of monogenic diabetes This is important because in some cases involves the correct prescription of treatment, with subsequent improvement and control of the disease, which prevents the patient from developing macro- and microvascular complications. The result is not only in favor of the patient, but also clearly reflects savings in health systems.

In addition, it is expected in the near future have genetic editing tools practically applicable to these forms of diabetes. In this context, it has recently been proposed launch of the national registry ( to try to find out the real prevalence of monogenic diabetes in our environment.

Primary care and prediabetes

Another pre-congress course focused on the role Primary care as the main and central axis of care for patients with T2DM. “A vision was presented of all the paths our patients take, from prevention to correct diagnosis, as well as an early approach to complications and the use of technologies used in diabetes mellitus”emphasizes Dr. Belen Benito BadorreyCoordinator of the Working Group on Primary Health Care and Diabetes SED, which emphasizes how from the first level of care “You can intervene in aspects of the current 5Ps of medicine approach (personalized, predictive, preventative, collaborative and population), and we add proximity.”.

This area of ​​healthcare is in a privileged position for prevent early TD at all levels. “Maybe act on an individual level (with early detection, transition to a healthy lifestyle, weight control, promotion of regular physical activity) and at the population level (with the implementation of government policy and access to medical care“says Dr. Benito, who also adds the crucial role of technology in this goalwith mobile apps, wearables (smartwatches and activity bands), and the use of artificial intelligence (to analyze health data to identify people at risk of diabetes or develop personalized detection and prevention tools).

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