countries like USA. It is longer in
developing countries.
3. Treatment and cost – There are
only around 500+ FDA drugs
available. The cost is often prohibitive
due to high development costs and
fewer patients.
4. Education and genetic
counseling (GC) are critical
necessities to help patients and
physicians deal with rare diseases.
GC is needed at various levels such
as prior to genetic testing, posttesting, prenatal diagnosis and
family planning particularly in
consanguineous marriages.
5. Support Groups – There are few
Indian organizations devoted to
rare diseases and support the rare
disease patients for LSD,
Muscular Dystrophy, IEMs, Rett
Syndrome, etc.
6. Health Care Policy – There is
no comprehensive healthcare
policy for Rare Disease in India
for any category/class.
7. Research and Development –
There is no specific focus towards
Research and Development in
this area. There is a need to
encourage and fund academic
research, Pharmacutical and
biotechnology industry to take
such R&D work and development
of drugs for rare diseases.
FUTURE PERSPECTIVES
Although the challenges for rare
diseases appear to be of
Himalayan proportions, the
advent of precision medicine,
otherwise referred to as
personalized medicine, offers
hope in the diagnosis and
treatment of rare diseases.
Precision medicine is being
applied in relatively common
disorders such as cancer, immune
diseases and infectious diseases.
India has a high
potential to costeffectively develop
and manufacture
small molecule
drugs, biologics and
vaccines for rare
diseases due to its
inherent capabilities
in drug and vaccine
development.
India has a high potential to
cost-effectively develop and
manufacture small molecule
drugs, biologics and vaccines
for rare diseases due to its
inherent capabilities in drug and
vaccine development.
The rapid growth and innovations
in molecular diagnostics and
bioinformatics globally are also
likely to have a beneficial impact
on precision diagnostics for rare
diseases. The advent of NGS in
the clinic has led to the
application of multi-gene, exome
and whole genome-based
diagnostic tests. India’s strength
in information technology and
bioinformatics will be highly
beneficial in the development and
democratization of precision
diagnostics for rare diseases.
DEVELOPMENTS IN INDIA
In recent years, some significant
developments have taken place
that will change the future of
health care in India. First, the
launch of the Rasthtriya Bal
Swasthya Karyakram (National
Health Program for Children),
on 6th February 2013. It covers
270 million children starting
from birth to 18 years of age, in a
phased manner and moving
towards the goal of Universal
Health Coverage. This program
screens for 30 health conditions
among children including
defects at birth, deficiencies and
diseases, development of
disabilities and also helps
manage these conditions.
Recent news about the Universal
Healthcare Policy by the central
Government is a hope for this
neglected community.
In India, an organization that can
unite all rare disease stake
holders under a single umbrella,
and speak in a single voice for
them does not exist. The lack of
such an umbrella organization
has reduced the effectiveness of
the disease specific organizations
as much of their resources are
directed towards common causes
such as raising general