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Genetics testing and the accurate diagnosis of diabetes

Precision medicine is an emerging approach that considers gene variation among several factors in the diagnosis, treatment and prevention of diseases such as diabetes

Image Credit: Supplied
Dr Sara Suliman
GN Focus

Diabetes is one of the major healthcare challenges in the UAE with close to one in five adults currently affected. It places a substantial burden on society not only due to the material costs of treatment of diabetes and its associated complications (most notably cardiovascular disease), but also due to the premature death, reduced productivity and quality of life, chronic disability, in addition to other intangible costs. 

Precision medicine (or personalized medicine) is an emerging approach to disease diagnosis, treatment and prevention that considers variations in genes, proteins, metabolites, environment, lifestyle and other factors. This approach helps to properly classify diseases such as diabetes, offering individualized treatment and moving away from the ‘one size fits all’ model. Diabetes is a prime example of a condition where many patients and their physicians are aware of two sub-types (type 1 and type 2), whereas in practice there are over 15 sub-types - each of which has a different etiology (cause) and could and should be treated differently.

The majority (95-98 per cent) of those living with diabetes worldwide have either type 1 or type 2 diabetes. However, in an estimated 2-5 per cent of diabetic patients i.e. approximately 20,000 – 50,000 individuals in the UAE, a genetic abnormality (often due to a single gene defect) causes irregularities in insulin secretion or action that can lead to diabetes. This condition is called monogenic diabetes and is diagnosed based on certain criteria, specifically, genetic testing. Importantly, many of these conditions are familial and affect 50 per cent of a diabetic’s offspring.

Monogenic diabetes is often misdiagnosed as either type 1 or 2 diabetes, and as such patients are often treated inappropriately. Genetic testing can have immense benefits, as the correct diagnosis allows some patients to transfer from insulin injections to oral medication with marked improvements in glycemic control and, in turn, quality of life. It may also identify families with diabetes and high cardiovascular risk, and other families with mutations that demonstrate a very low risk of diabetes related complications similar to non-diabetic populations.

Imperial College London Diabetes Centre (ICLDC) has the first clinic dedicated to the genetics of diabetes and endocrine disorders in the GCC region, which is currently caring for 165 individuals with diverse types of monogenic diabetes and genetic endocrine disorders. The facility sees on average three to four new cases every week and offers personalised service focusing on accurate diagnosis using genetic testing, and tailors investigations and treatment accordingly. In 2016, six patients stopped insulin therapy after their diabetes was diagnosed as monogenic and not type 1 as originally believed.

- The author is Consultant Endocrinologist and Diabetologist at Imperial College London Diabetes Centre (ICLDC) 

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