“We still don’t have a clear understanding of the actual disease burden in India”

“We still don’t have a clear understanding of the actual disease burden in India”

Vijay Chandru, Co-Founder and Director, Strand Life Sciences, and INAE Distinguished Technologist at Indian Institute of Science, is an academic turned entrepreneur. He got his PhD in mathematics of decision sciences at MIT in 1982. He taught and conducted research in computational mathematics of optimization, geometry, logic and biology at Purdue University (1982-1993) and the Indian Institute of Science (1992-2005). The vision that drove him to entrepreneurship was to create successful, world-class, technology innovation companies out of India. In 1998, he joined hands with kindred spirits to create the Simputer (a handheld computer). He also co-founded PicoPeta Simputers, which commercialized the Simputer to create the Amida Simputer. Strand Life Sciences started out as an exciting life science informatics company based in Bangalore, India. Strand, which has captured around 30% of the global market for analytics software in research biology for the various “omics” – genomics, proteomics, metabolomics, etc., is a global, personalized medicine company that uses clinical genomics for oncology and inherited disorders. He also helped create non-profit agencies that work for neglected disease communities. In an exclusive interview with Editor CH Unnikrishnan, Chandru, who is pursuing the vision of affordable precision medicine, says that India needs to do a lot more to have clarity on its actual disease burden, especially rare and undiagnosed diseases. Edited excerpts:

 

India is one of the large geographies where the burden of rare and undiagnosed diseases, mainly linked to genetic disorders, is high with a prevalence of around 70 million. But the country still doesn’t have accurate data or a registry to formulate appropriate policies or a budget to take care of the patients. Why?

We still don’t have a clear understanding of the actual disease burden in the country, especially in case of the rare and undiagnosed diseases linked to genetic causes. I think the challenge here is that there has been no systematic surveying. As per information from government agencies, at least all the diseases that have been given the disability status will show up in census data by the 2020-21 survey, which will start giving us some clue. With this, at least major disabilities like hemophilia, thalassemia, sickle cell anaemia, muscular dystrophy, multiple sclerosis and perhaps a few more will be captured and those numbers will be known with better accuracy. Secondly, there is also a hope that because there are a lot of patient communities, awareness activities, camps, etc. happening now, that will help slowly build the data, as these platforms will be able to provide useful information and numbers.

ICMR has announced that it will build a registry of rare diseases in India. We will have to wait and see how successful that effort will be. Though the apex medical research body was claimingly successful in building India’s cancer registry, the numbers still do not seem very accurate. While the cancer registry shows about 1.3 million new cases per year, there seems to be something wrong with this number. For instance, China, which has almost the same level of disease burden as India, had recently declared its data of new cancer patients as 4.1 million per year. So, apparently, the data claimed by the Indian registry has probably underestimated the prevalence. ICMR is using some kind of sampling technique and then extrapolating it. But for some reason, this number seems conservative, I feel.

On rare diseases, it’s true that some pharma companies have somewhat better-estimated data since they have information that is collected from doctors or directly from the market. But when you ask these companies about lysosomal storage disorders, they estimate it as a few hundreds. Similarly, many haematologists estimate thalassemia cases at 1 to 1.5 lakh patients. So, where is this number of 70 million patients of rare diseases that are projected at every forum coming from, I often wonder. China has published that their population with rare diseases as 20 million. I agree that India has more consanguineous marriage within the same community, among other factors, that cause genetic disorders. But still, such a huge difference! So, we don’t know what the numbers are. But I feel there is plenty of work to be done to have a clarity on the actual disease burden. These numbers are important to formulate our priorities, where funds should be given and what sort of facilities have to be created, among others.

 

There are government bodies like IGIB and ICMR, private companies and charity organisations working to address patient needs. At what stage are these works at present, any idea?

As far as rare diseases are concerned, some areas have seen better progress. For example, patient tracking and diagnosis in haematological disorders are comparatively better organised and there is a lot of work currently going on. While activities for muscular disorders is slowly picking up, other segments like primary immuno-deficiency and others are still poorly covered and there is very little help for patients at present. Overall, I think we have a fundamental issue of really starting to think about evidence-based planning for the care of rare diseases, moving away from the eminence-based planning.

I remember, the health Secretary of Karnataka once asked us (the industry), while the state was proposing a draft on its health policy, if we can provide data about the actual burden and he made it a point that the allocation of the budget is not possible unless the government knows the burden.

But I think it is just a matter of time; It will happen and the good thing is that the country is looking at healthcare much more seriously now and it is also an era when medical records are largely being digitized. Even for rare diseases, the country is looking much more carefully at the data and digital records from various sources.

 

What about the therapy side?

The therapy side is always a challenge. There are many therapies that are used for the maintenance of patients. Those therapies, I think, patient communities and hospitals are tracking and providing. But even then, we don’t have a comprehensive list of medicines. Rather, none has put together a good collection of information about medicines that the patients would need for rare diseases. By this, what I am referring to is the kind of a comprehensive list that India prepared on essential medicines, that the country’s physicians would require along with all other related information about availability, pricing of generics and patented products and so on, when the country was about to sign the Dunkel Draft. Such a list needs to be prepared for rare diseases as well, detailing the use, cost, availability and accessibility. Such an effort will help in ensuring the availability and accessibility of treatment for Indian patients in case of rare diseases. Otherwise, a large section of the population will still be left untreated as most of the targeted treatments currently available in the market is beyond the reach of the mass.

 

The genetic study of the Indian population, which is essential to address rare diseases, is still minuscule. What needs to be done to expand it?

There are some broad-based genetic studies that are being planned as part of projects like Genome India and so on. But there are also more focused cohort studies such as the neurological disorder study that is done by NIMHANS etc., going on in parallel. So, it has slowly started to build up, but the volume of work is yet to pick up. However, the good thing is that the country has the capacity now. Large sequencers have been set up at least in five to six locations in the country. So, the ability to run the sequences to do the bioinformatics has been built and we are in a position to do it. But if you ask me if we have done it, I would say it is not very visible. Though a few companies, including Strand Life Sciences and MedGenome, have probably generated a fair amount of data, I don’t think academic groups have done as much. However, since capacities have been built, they seem to be getting adequately funded shortly. Going forward, we will see better, and more data being generated as things are moving in the right direction. Rare diseases are definitely on the agenda and it is time to think positive.

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