Genetic Testing for Diabetes

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Gene identification in genetic testing
Importance of genetic testing
Companies developing new diabetes technologies
Further reading

Type II diabetes mellitus (DM) is one of the most common non-communicable diseases. Unlike type I diabetes, in which the production of the hormone insulin is reduced, in type II diabetes, insulin is produced in normal amounts. However, tissue sensitivity to the hormone is reduced.

Image Credit: New Africa/ShutterstockImage Credit: New Africa/Shutterstock

This leads to a violation of the flow of glucose into the cells and the development of an increase in its content in the blood serum compared to the norm (hyperglycemia). The main reason for developing type II diabetes is a combination of genetic factors and an unhealthy lifestyle.

Gene identification in genetic testing

Several gene mutations have been identified as associated with an increased risk of developing type II diabetes. In laboratory practice, these are called "genetic markers."

Their study makes it possible to detect a predisposition to this disease before its development and take preventive measures against DM. As part of this analysis, the most important genetic markers of the disease are determined:

  • CDKAL1 gene: The CDKAL1 gene is an inhibitor of the CDK5 kinase enzyme in pancreatic cells, which plays an essential role in the release of insulin into the bloodstream. There are several regions in the CDKAL1 gene that can influence the development of type II DM. For example, some mutations in the CDKAL1 gene are associated with reduced insulin production, which increases blood glucose levels.
  • CDKN2A and CDKN2B genes: CDKN2A/2B genes (cyclin-dependent kinase inhibitor 2A/2B, cyclin-dependent kinase inhibitor 2A/2B) encode several proteins. These proteins regulate the division of pancreatic cells. Mutations in the CDKN2A/2B genes are associated with type 2 diabetes mellitus, as well as with some cardiovascular diseases and some forms of cancer.
  • HHEX gene: The HHEX gene is found in pancreatic cells and affects the production of the hormone somatostatin. Decreased levels of this hormone can cause impaired insulin production. The presence of certain mutations in the HHEX gene is associated with a violation of tissue sensitivity to insulin and a decrease in its production, regardless of the level of glucose.
  • IGF2BP2 gene: The IGF2 gene is located on the short arm of the 11th chromosome and encodes insulin-like growth factor 2. It affects the viability of pancreatic cells, and gene mutations may be associated with decreased insulin production.
  • SLC30A8 gene: The gene encodes a transport protein that is responsible for the movement of zinc ions into the cell. Zinc plays an important role in regulating the production and secretion of insulin by pancreatic cells. Mutations of this gene cause disturbance in these processes and therefore increase the risk of developing type II diabetes, especially in combination with obesity in humans.

Molecular genetic studies of these genes are recommended for persons at risk for developing type 2 diabetes, as well as for people whose close relatives have been diagnosed with this disease.

Importance of genetic testing

Genetic testing was developed based on data from scientific studies of polymorphisms of dozens of genes that increase the risk of developing diabetes. The results of the study make it possible to learn about the high risk of developing type II diabetes and to take timely measures to prevent the disease.

Analysis of the genetic predisposition to diabetes mellitus makes it possible to identify the presence of pathological forms of genes. This allows you to choose the appropriate treatment and methods for preventing the development of type 2 diabetes.

Related: Diabetes Risk Factors

Companies developing new diabetes technologies


DexCom is a U.S.-based diabetes management company that is a huge player in manufacturing glucose sensing technologies. Back when it was first created in 1999, the company primarily created implantable sensors that would monitor the level of glucose in the blood, which was very effective as the body would quickly adapt to the sensor.

The company has released Its latest sensor system, the Dexcom G6 which does not need any blood samples to gather levels of glucose. The FDA approved this system in March 2018. Like other glucose monitoring technologies, this system allows diabetics to track their blood sugar levels using a sensor placed under the skin. Dexcom has also collaborated with Apple to embed a CGM sensor into Apple Watches.


Medtronic is the largest medical technology company in the world, with over 200 offices globally. The company was founded in 1949 as a medical repair shop; however, over time, they started developing cardiac pacemakers, implantable mechanical devices, energy-powered surgical instruments, and drug and biologics. Accommodating almost 40 different medical conditions.

For over 25 years, Medtronic has been leading the front in diabetes testing and treatment. It has recently released its hybrid closed-loop system, which is a monumental step in building an artificial pancreas. The MiniMed 670G system is the first hybrid closed-loop system that constantly monitors blood sugar levels and delivers insulin automatically. However, patients will have to continue to input the type of insulin and the dosage based on food intake.


Abbott Laboratories is a U.S. company founded in 1888. It offers blood and glucose monitoring systems, including sensors, test strips, and software for all people with diabetes.

Abbott recently developed a FreeStyle Libre wireless monitor, part of a new spectrum of glucose monitoring devices that use “flash” technology. Patients wear this sensor on the upper arm – to measure the glucose levels of the person.

Image Credit: Svetolk/ShutterstockImage Credit: Svetolk/Shutterstock


Further Reading

Last Updated: Dec 22, 2022

Dmitry Dorofeev

Written by

Dmitry Dorofeev

After completing his bachelor’s degree in market research and psychology in 2019 in New Zealand and Germany, Dmitry moved to London to pursue a career within the healthcare sector to oversee research projects in science and medicine, with a focus on how innovative technologies help drive and shape this industry.


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