The economic burden of unmet healthcare in India is significant because of its burgeoning population and substandard infrastructure. A key strategy to address this lies in diagnostics: Early diagnosis and disease management have long been established as ways to improve a patient’s prognosis.
Despite scientific advances, timely diagnosis remains elusive for most Indians because diagnostic tools are expensive and complex to use. An ideal solution would be technology that is portable and inexpensive. Fortunately, personal diagnostics, or genomics, is an area that will progress in India over the next year.
Over the past decade, advanced diseases such as cancer and lifestyle conditions have proliferated. Most are due to risk factors arising from a person’s genetic predisposition and environmental conditions. Both parents contribute to their child’s genome, or hereditary information, thus passing on their physical and psychological traits to their offspring. As a result, a child may inherit its parents’ genetic risk factors. The child can, over time, also accumulate genetic risk factors due to its lifestyle and environmental conditions. These combined risk factors might lead to an adverse medical condition.
Therefore, knowledge of a person’s risk profile will help a clinician advise him or her about lifestyle changes that might lower the risk or slow down the progression of a disease. In some cases, this information might predict risk for a serious disease, and this could lead to follow-up tests, periodic observations for signs of disease development or even medical intervention.
Today, more than a century after Gregor Mendel discovered genes, we can read a person’s entire genome and pinpoint genes and regions within it that are thought to be associated with a medical, physical or psychological trait. The knowledge of these associations over time will enable us to change clinical outcomes and help us make good lifestyle choices to avoid or delay adverse conditions. In order to
understand the genetic makeup of a person, his or her DNA is sequenced and compared with another individual’s DNA or a reference sequence. There are several variations in our DNA called single nucleotide polymorphisms or SNPs (pronounced ‘snip’). These SNPs play a major role in the onset of any disease and drug response in humans.We can now identify and analyse these DNA variations by genotyping, using cutting-edge techniques. Once the genotypes are known, they can be compared with the published literature to determine the likelihood of a trait being expressed and the consequent risk of disease. For the past decade, Ocimum has built up expertise in genomics. Other companies in India are also likely to be offering solutions. While personal genomics has been around in developed countries for a few years, it is only now that one sees that the data accumulated has started to bring in some very interesting trends.
Anuradha Acharya is the founder and CEO of Hyderabad-based Ocimum Biosolutions, a leader in personal diagnostics in India.