Written by Dr Poonam Kuruganti |Updated : May 21, 2014 11:07 AM IST
A 2006 research study in New England Journal of Medicine had two interesting observations. One, a variation of the TCF7L2 gene is linked to prediabetes (blood sugar is high but below diabetes range) which indicates a higher likelihood of developing diabetes. Other data showed that changes in food habits and physical activity could reduce or stop disease development, even in people with disease-risk increasing genetic variants.
Every human cell contains a nucleus with chromosomes, that carry the 'building block' of life (or DNA) arranged in specific groups (or genes), which are responsible for all our biological characteristics. Often person-to-person genetic differences result from gene mutations (or changes) that may either directly cause disease (e.g. sickle cell anemia) or combine with dietary and environmental factors to increase the probability of disease occurrence (e.g. diabetes, obesity, heart disease and stroke).
Can tests that detect such genetic mutations be used to counter the rising tide of India's diabetes epidemic?
To determine if these tests could work, it is necessary to understand how diabetes is caused. Diabetes occurs when the body is unable to either produce or use insulin (a hormone that transports glucose from blood to its storage tissues), resulting in high blood glucose levels that can cause damage to the eyes, kidneys, heart and nerves. If the genetic predisposition (to diabetes) in our younger population is detected at the right time, and appropriate preventive measures are followed by them, then it could potentially reduce the number (estimated to be 100+million by 2030) of diabetics in India.
A few biotech companies such as Xcode Life Sciences offer genetic tests to detect diabetes-inducing genetic variations plus provide solutions to modify personal lifestyle choices. The vision of personalized medicine that could use an individual's genetic information to identify and prevent disease inspired Dr Saleem Mohammed to launch Xcode Life Sciences, a biotech incubated in the Vellore Institute of Technology. He studied the benefits of genomic tools and applications in life science analytics (PhD, Bioinformatics) at University of Nebraska-Lincoln (UNL). Dr Mohammed, whose mother was diagnosed with diabetes in her forties, felt that genetic testing could benefit people in India who are mostly unaware of their health status or disease risk. We talk to Dr Mohammed about diabetes-specific genetics and how Lifelong Wellness Program (Xcode's primary product and service) could be a part of the diabetes prevention goal.
Which factors increase a person's chance of developing diabetes?
On a broad level, two components that increase risk of diabetes are genetic factors and lifestyle factors. An individual who has a higher genetic risk should be more watchful of his/her lifestyle because the chances of him/her getting diabetes may be higher compared to that of a 'normal' individual.
Which are the common genetic variations linked to diabetes risk?
Some common genetic variants that have been associated with Type 2 Diabetes include TCF7L2, KCNJ11, PPARG, FTO, MC4R and CDKAL1.
How does the Lifelong Wellness Program from Xcode Life Sciences identify diabetes risk?
We offer genetic assessment for diabetes and other lifestyle disorders. The genetic evaluation is based on SNPs or snips that have been identified using genome-wide association studies (GWAS) across the globe. Our processes have been designed to give preference to studies that have focused on the Indian population.
Please describe the genetic test process and result report?
The assessment begins with saliva collection through which DNA is obtained. Customers order the test online and we send them the saliva container. Once the saliva collection is complete, they call our toll-free number and a pickup is scheduled. In 4-6 weeks, the customer will receive a report that describes their risk to diseases, their metabolic profile and a customized plan that they can use to prevent/delay the onset of chronic illnesses.
What can a person do to reduce their genetic risk for diabetes?
If a person has been identified with high genetic risk for diabetes, a nutritionist can design a customized nutrition plan. The customization is because not all people can metabolize foods the same way. For example, an individual may metabolize fats and carbohydrates faster than others. So the dietary guidelines are based on disease risk and metabolism. In addition, practical and simple fitness plans do not require access to the gym. The focus is on making small modifications to daily routines that motivate customers to start and continue with fitness recommendations.
What other support services are available?
In order to do engage with customers over the long-term, several services such as monthly newsletters, free storage of clinical history on our servers and mobile based health advice through SMS are provided.
Is it possible to quantify the success rate of such a test in terms of reducing diabetes incidence? How will a person know that their lifestyle changes are decreasing their diabetes risk?
It is possible to quantify the success rate. This would involve tracking an individual at least for 20 years, if not more, because an individual might take the assessment when he/she is 20 years old but will know whether he/she was affected (or not) by disease only after a certain age. The compliance rate, that is how well the test-taking individual complies with the prescribed recommendations, is an important factor in the success of this prevention strategy. Over the short-term, lifestyle changes of regular exercise and eating nutritious food may transform how a person feels both on a physical and mental level. Individuals with other risk factors such as family history or associated conditions (e.g. obesity) can measure changes in health performance via periodic check-ups of specific parameters such as weight, blood cholesterol and blood glucose levels.
Lastly, do you have any advice for diabetes prevention and management?
The key to diabetes prevention is to start practicing healthy living as early as possible in life. Detrimental lifestyles that include eating junk food at odd hours, erratic sleep patterns, high-stress environments, long work hours, high genetic risk, etc. are some indicators of diabetes onset. Thus, a genetic assessment should be taken as early as 10-12 years of age because the earlier good eating and healthy living habits are practiced the better it is. Early warning signals regarding a higher genetic risk can empower people to take modifying actions that are beneficial throughout their lifetime.
Read more about causes, symptoms, diagnosis and treatment of diabetes.
Accessible to middle-class and affluent populations
At this time, the cost of genetic testing restricts its reach to the upper middle-class and affluent populations. Healthy-appearing people with or without family history may consider taking a genetic assessment. The test may offer new information regarding disease-risk and/or confirm known disease-risk. Early knowledge of disease risk may serve as an incentive to follow and continue a healthy lifestyle. If genetic testing becomes accessible to low- and middle-income populations (through government programs and/or employer-offered health benefits), it has the potential to play a significant role in reducing the epidemic impact of diabetes. Since diabetes is so far a no-cure and lifetime disorder, prevention is preferable to treatment.
Learn more about the role genetics in diabetes:
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