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Precision Medicine in Diabetes Diagnosis and Prevention

Precision diabetes medicine is a concept and practice that seeks to evaluate an individual’s behavioral, situational, and symptomatological differences to enhance the diagnosis, prevention, and treatment of diabetes. It uses precision diagnostics and precision therapeutics to treat patients with similar characteristics. It also uses advanced technology to observe disease progression. One way it differs from the standard practice used in place today is its usage of elaborate aggregated data to accurately diagnose an individual. Such data can originate from clinical or medical records, behavioral monitors, ingestible or wearable sensors, and genomic data. Due to the variability in diabetes subgroup types and the growing burden of disease in diabetes, precision medicine is necessary for the diagnosis and prevention of diabetes in individuals.


There are many subgroups of diabetes, but two types of diabetes that are most common are Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D). T1D is an autoimmune disease that results in the destruction of beta cells produced in the pancreas. It represents about 10% of all diabetes cases and is grouped into three distinct stages. Generally, T1D is not diagnosed until the patient reaches the third stage. Genetic and environmental factors both play a significant role in an individual’s susceptibility in the acquiring T1D. Since T1D is mostly genetic based, it is more prevalent in youths and children. In contrast, individuals that are likely to be diagnosed with T2D are usually older adults. Unlike individuals with T1D, individuals with T2D can produce beta cells, but their bodies have trouble responding to insulin. This leads to an increase of glucose level in the bloodstream. There is a growing global burden of T2D, as 6.28% of the global population suffer from T2D [1]. Each year, diabetes alone is responsible for over one million deaths, making it the seventh leading cause of death [2]. Thus, precision diabetes medicine must be implemented to stabilize and decrease the rising trends.

There have been initiatives set in place to address this growing epidemic of diabetes. In 2018, the American Diabetes Association partnered with the European Association for the Study of Diabetes to launch the Precision Medicine in Diabetes Initiative (PMDI). The PMDI promotes research, offers education, and embraces new recommendations to incorporate precision medicine in the diagnosis and treatment of diabetes [3]. Further, there is an active development of an international network focused on precision diabetes medicine.

To make medicine more individually directed, there must first be precision in the diagnosis of diabetes. Patients diagnosed with diabetes typically fall into two classifications: T1D or T2D. However, diagnostic complications emerge in a given case where the patient has symptomatic or situational differences that result in the patient deviating from the expected norm of a given category [5]. Additionally, the frequent misdiagnosis of T1D and T2D corroborates the dire need for precise diagnosis since the consequences of the misdiagnosis can often be fatal [5,6]. For too long, diabetes has been seen as a black and white disease and not as a spectrum: individuals must exhibit the traits necessary to fall under the subcategorization of T1D or T2D. By implementing precision diabetes diagnosis, this approach can be improved to also incorporate other subcategorization of diabetes beyond the well-known T1D and T2D.

Precision diabetes medicine also requires optimal precision prevention that is tailored to the patient. Precision prevention for T1D generally translates to heightened monitoring of the disease to promote early detection, which helps minimize the complications and additional risks associated with the disease. Early detection can also allow the commencement of possible treatment options, which can include immunotherapy or dietary changes. Despite this, actions that sought to implement such prevention have proven to be unsuccessful because the individual’s unique response to such measures were not taken into consideration [8]. For instance, there is a genetic risk associated with T1D, so dietary changes may have different effects on the individual depending on their genetic makeup [4]. Without acknowledging the individual’s distinctive genetics, such preventive measures may prove to be ineffective, supporting the need for precision prevention.

Precision prevention should also be implemented for T2D. Luckily, there are many outlets for prevention in T2D through change in lifestyle. Large prevention trials show, however, that a universal approach towards lifestyle intervention is not successful for everyone, as each individual has their own circumstances; in other words, some interventions may work well for some, while the same interventions may not work well for others. This conclusion only strengthens the need for precise prevention for individuals who do not want to acquire T2D. To decrease an individual’s chances of becoming diabetic, there has been a drive to include the stage of “pre-diabetes” so that an individual is aware of their current health status and can begin aggressive prevention methods. Precise prevention, thus, tailors to the individual’s unique characteristics to allow a specific treatment that will facilitate a much more effective method to prevent the exacerbation of diabetes.

It is time to acknowledge that an effective way to reduce the global burden of diabetes is through precision diabetes medicine. There are many variabilities in diabetes and taking into account an individual’s genetic makeup, as well as environmental and situational factors, can help them acquire precise prevention, diagnosis, and treatment of the pathogen. Implementing precision prevention T1D and T2D will allow early detection of the disease. Given that not every prevention method will prove to be efficacious for each individual, a personalized approach will allow the patient to make necessary lifestyle changes that will best suit their needs. Precision diagnosis also allows for a much more tailored diagnosis that evaluates a patient’s unique characteristics, which reduces the frequency of misdiagnosis of patients.


Edited by: Rohan Gupta

Graphic Designed by: Natalie Chou


References:

  1. Khan, Moien Abdul Basith et al. “Epidemiology of Type 2 Diabetes - Global Burden of Disease and Forecasted Trends.” Journal of epidemiology and global health vol. 10,1 (2020): 107-111. doi:10.2991/jegh.k.191028.001

  2. CDC. “What Is Diabetes?” Centers for Disease Control and Prevention, 11 Mar. 2020, www.cdc.gov/diabetes/basics/diabetes.html#:~:text=Diabetes%20is%20the%20seventh%20leading.

  3. “Precision Medicine in Diabetes Initiative | American Diabetes Association.” Professional.diabetes.org,professional.diabetes.org/content-page/precision-medicine-diabetes-initiative-0.

  4. Hakola, Leena et al. “Infant Feeding in Relation to the Risk of Advanced Islet Autoimmunity and Type 1 Diabetes in Children With Increased Genetic Susceptibility: A Cohort Study.” American journal of epidemiology vol. 187,1 (2018): 34-44. doi:10.1093/aje/kwx191

  5. Thomas, Nicholas J et al. “Frequency and phenotype of type 1 diabetes in the first six decades of life: a cross-sectional, genetically stratified survival analysis from UK Biobank.” The lancet. Diabetes & endocrinology vol. 6,2 (2018): 122-129. doi:10.1016/S2213-8587(17)30362-5

  6. Thomas, Nicholas J et al. “Type 1 diabetes defined by severe insulin deficiency occurs after 30 years of age and is commonly treated as type 2 diabetes.” Diabetologia vol. 62,7 (2019): 1167-1172. doi:10.1007/s00125-019-4863-8

  7. Chung, Wendy K et al. “Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).” Diabetologia vol. 63,9 (2020): 1671-1693. doi:10.1007/s00125-020-05181-w

  8. Knip, Mikael et al. “Effect of Hydrolyzed Infant Formula vs Conventional Formula on Risk of Type 1 Diabetes: The TRIGR Randomized Clinical Trial.” JAMA vol. 319,1 (2018): 38-48. doi:10.1001/jama.2017.19826

  9. Imperatore, Giuseppina, et al. “Prevalence and Incidence of Type 1 Diabetes among Children and Adults in the United States and Comparison with Non-US Countries.” 17 June 2015.



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