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‘We offer tests in a sub-set area of genetics, called as metabolomics’

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Abhimanyu Kumar, Founder and CEO and Susheel Singh, Co-Founder, Director and CTO, Preventine speak about genetic diagnostics in India, the market for preventive tests and their strategy to reach out directly to the end users, in an interview with Raelene Kambli

Is the concept of genetic testing well received in India?

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Abhimanyu Kumar

Abhimanyu Kumar: India is a complex country with a lot of disparity, not only within its economic aspects but also with respect to knowledge, awareness and mindset. The health needs can be broadly classified in two parts – ‘responsive testing’ (after a disease occurs), and preventive testing (before the onset of a disease or its conditions). While a significant portion of the Indian population opts for getting tested only when the disease and associated conditions surpasses all other priorities; yet there is a small but growing percentage of population which has woken up to the concept of prevention. This is the population which is at the intersection of education, awareness and most importantly, affordability. An indirect indication of the concept of ‘prevention’ picking up is the growing number of gymnasiums, nutrition clinics and increasing number of health insurance customers. And simultaneously, as the education and income levels rise, a higher percentage of population moves in this bracket of prevention. Within this bracket lies the concept of genetic tests because these tests have mostly to do with ‘prevention’.

In 2008, when we went operational, we were one of the first movers in a sub-area of genetics called as metabolomics. It was almost impossible to connect with the medical fraternity, let alone with common people about the concept of preventive tests, even if it was for newborn or young children. However, within a span of few years, we have been seeing a change in the mindset. Today, especially the new generation of parents are much more willing to pick preventive tests for their children.

In addition, a certain percentage of adult population which is aware of hereditary diseases, mostly the common ones like diabetes, obesity, cardiac diseases etc. are now willing to pick up preventive tests which can give early signals of health problems associated with such diseases.

Since the economy is doing good, education, awareness and income levels are rising, it is just logical that more of such preventive genetic tests shall be picked up by a significant percentage of people in India. The only variable that remains for a sustained growth is – how useful are the tests actually?

What is your opinion about the genetic testing market in India? What are the opportunities in this field?

Abhimanyu Kumar: India is considered today to be a growing consumer market for even the most premium products and there are plenty of early adopters of the latest gizmos, SUVs and high-end housing. Observing this and our simultaneous experience with consumers, we believe the genetic tests are likely to be adopted quite a bit in India. However, one risk area is whether the genetic tests can match up to the expectations of consumers.

Consumers in India are known to have high expectations, more so when it is about premium products. Now, it is a fact that most genetic tests give a ‘probabilistic finding’, which in my personal opinion does not meet the expectations of the consumers in India. A test-result which sounds like, ‘you have a 41 per cent risk to a certain disease against a population risk of 38 per cent’, does not connect well with a consumer who expects something really concrete about his future health. In addition, the genetic tests findings need to be simplified enough to be understood by a consumer with minimal efforts. Giving complex matrix or data does not go too well with the buyer, whichever way you package it. The reports also need to go beyond obvious recommendations like ‘lifestyle change’. This is something too basic and the consumers may feel that the expense into buying a genetic test went underused.

The opportunities therefore will be only for those tests which meet specific criteria like: Deterministic results, easily interpretable reports by the way of risk-graphs and conclusive statements; and associated information about management of the identified condition(s). It goes without saying that the management should be routed through a qualified health practitioner. For other tests, I think they have to wait for some time.

How different is the Indian market from the global one?

Abhimanyu Kumar: Indian market is more diagnostics oriented, whereas genetic tests are mostly preventive tests and hence have yet not made it to the mindset of the larger Indian population.

Secondly, we are used to starting a line of treatment even based on a hypothesis. In the sense that, if there is a physiological indication or there are tests which give only superficial findings, we consider it enough to support a hypothesis behind the medical condition and start a treatment. Whereas, in most advanced countries, forget treatment of illness, people tend to get examined first even before taking steps towards ‘wellness’. It is a practice to first drill down to reach the specific cause behind health conditions which may have general symptoms. Only then a line of treatment is picked.

There are many deterministic genetic tests which help drill down to the root cause behind general health conditions. But they are not tried in the Indian market because just a ‘sense’ or ‘hypothesis’ is enough to initiate a treatment, so why to go for something which is expensive and also not too easily available with local laboratories. We mostly look at the immediate problem and not the long term consequences of an underlying medical condition. So, working with pathological findings to find immediate relief suffices somehow.

For example, in a disease like diabetes which affects over 6.5 million people, the standard approach is to manage sugar levels and at best have some physiological parameters read or tracked. Whereas, genetics and more specifically, metabolomics has made it possible to pick very early signs before diabetes affects the neuropathy or liver functioning, and thereby helping personalise a treatment plan which works for the diabetic. However, the uptake is yet less because life just goes on even with preliminary measures and other reason being lack of awareness about such class of tests.

Which class of genetic diagnostic testing do you cater to? What are the areas that these tests cover?

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Susheel Singh

Susheel Singh: We offer tests in a sub-set area of genetics, called as metabolomics. We are yet to get confident about the value proposition offered by the conventional genetic tests and hence have chosen to concentrate on metabolomics since it gives excellent findings, very early indications of effect of disease on functioning of vital organs and helps give a clear, unambiguous recommendation on the line of treatment to the consumer.

The chief area which we cover are chronic diseases like diabetes, obesity, cardiovascular disease, autism and inborn errors of metabolism. Our tests help manage the conditions at early stage and avert fateful outcomes on health.

You say that one day preventive genetic tests are going to be available in the superstores. So are these direct-to-consumer genetic tests?

Abhimanyu Kumar: Few years back there were not too many health-centric stores. Today, we have huge chains of stores which sell only health products, but also weight management diets and special foods. In certain countries there are kits available for even HIV testing on a do-it-yourself basis. In fact, there are companies in the US, which have introduced even pathology tests under a ‘do-it-yourself’ model, in which the consumers collect the blood sample themselves through lancet or capillary action, and send it to the laboratory. The kits for these tests are to reach the hands of the consumer and he would do the rest. Logically, the superstores are a distribution point and it is quite likely that someone who has a high cholesterol or a family history of cardiac problems will pick a test for ‘trans fats’ directly from the health store, collect his sample by a small painless prick on the finger, send the sample to the laboratory, get the results and if high trans fats are detected in his blood, will go to see his family doctor.

With the direct-to-consumer tests, the direct part is primarily about the mode of sample collection, which can be done at home without any technical assistance. For our category of tests, the sample requirement is a dried blood spot and urine sample. Both are self-doable.

However, most of the tests coming to us are routed through clinicians. The good thing is that this category of tests are being appreciated by the clinicians, because without the approval of those who are going to treat the illness, it is unfeasible to offer the tests to consumers.

What will be the benefits and drawbacks of these kind of predictive tests? And are these tests in any way predictive? If yes, what are the risks involved in predictive testing?

Susheel Singh: ‘Preventive’ is a better word rather than ‘predictive’. They pick definitive signs of disease progression and help initiate a preventive regime of treatment. The benefit with this category of tests is that quality of life can be managed to a great extent, the high emotional, physical and commercial loss because of diseases can be reduced.

On the other hand the ‘predictive’ genetic tests for several hereditary diseases including cancers, may not give concrete findings, thereby causing unnecessary worry to consumers. Just having some ‘chance’ of contracting a disease in future will leave one with unnecessary paranoia.

What are the regulations related to direct-to-consumer genetic tests? What is the code of conduct you follow in India?

Susheel Singh: Unfortunately there are, as of now, not too many regulatory requirements for direct-to-consumer genetic tests. And why genetic tests, in fact there are not many requirements even for general medical tests in India. Any lab can go operational with just a shop and establishment license, and this is fatal. More so if it comes to genetic tests whose results shall be apparent only over a long period of time, the unaccredited laboratories can easily get away with even sub-optimal results.

We follow strictest quality norms, maintain the international ISO15189 for medical laboratories and have a 100per cent EQAS compliance with at least five international laboratories.

Can these kind of genetic tests be misused by patients? How can you curb the misuse of such tests, especially if they are predictive?

Susheel Singh: Theoretically, if a person knows about an impending disease or condition may get himself insured at a lesser premium and there can be a reverse scenario of being charged a heavy premium for disease he is not even suffering from. There have been continual debates on this and similar issues, because of which genetics and insurance are yet to come together. There are other scenarios wherein genetic tests can be misused by employers or even prospective parents who intend to adopt a child.

One and the only way to not let such practice flourish is by some strict guidelines by the government. I hope that our government realises the momentum of upcoming genetic tests and comes up with very clear guidelines on genetic tests.

What will be the way forward in this segment of genetic diagnostics?

Abhimanyu Kumar: The only way forward for ‘predictive genetic’ tests is to firstly get the results validated. There are billions of base pairs you get while decoding a DNA. Basing a conclusion on limited analysis is not too reliable lest the results are validated over a period of time.

There is a market for ‘preventive’ tests based on concrete or deterministic findings, provided the multiple players in the industry are able to market the value locked in such tests properly without overpromising and maintaining utmost quality and ethics. The most potent area of work is going to be ‘personalised medicines’ based on preventive or early-identifier tests.

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