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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.
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
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.
38 / FUTURE MEDICINE / May 2019