In 1865, Gregor Mendel disco-
vered the two laws of inheri-
tance that are now named after
him. Almost 90 years later in 1953,
the work of James Watson, Francis
Crick, Maurice Wilkins and Rosa-
lind Franklin, deciphered the
structure of the molecule — DNA —
that stores our hereditary informa-
tion and gets transmitted from pa-
rents to children over generations.
Personalised medicine
At this point, in principle, the
prospect of building individual-
ised medicine based on the pre-
cise information stored in each hu-
man’s DNA (their genome) had
come into view. But the human ge-
nome has around 3 billion base
pairs and in 1953 it wasn’t possible
to imagine extracting genetic in-
formation on the molecular scale
and of this collective size.
Technological advances in se-
quencing methods have made the
possibility glimpsed 60 years ago a
reality today. Already by 2001 the
human genome project and its
private competitor, Celera Genom-
ics, showed that an entire genome
could be sequenced.
Since then the cost of doing so
has plummeted — currently it is so-
mething like $1000 per person
and becoming cheaper — and the
age of genomicsinformed medi-
cine is now within sight. Perhaps
this will also make interventional
treatments feasible, in the not too
distant future, thanks to the revo-
lutionary advances brought about
by the discovery of new geneedit-
ing techniques, such as CRISPR.
Surveying Indian variation
What implications do these deve-
lopments have for India and are
there deliberate choices that
would shape this coming future
more advantageously for the coun-
try and its people? Are there
strengths that India can bring to
this task? To gain fully from the ge-
nomics revolution, India needs to
collect information about the ge-
netics of its population and train
manpower capable of interpreting
it. The information that is needed
has to come from a large and sus-
tained collection of data — fully se-
quenced individual genomes
along with medical histories for
the individuals who volunteer for
this eort.
This kind of longitudinal study
is what would allow actual physi-
cal manifestations relevant to
health, e.g. specic illnesses, to be
related to features in the genome.
To pick an ambitious but not im-
possible number, a data bank that
collects this kind of information
on one million Indians over the
coming decade would be a feasible
eort of the right magnitude. We
note that the China Kadoorie Bio-
bank has been studying half a mil-
lion people since their recruit-
ment in 20042008. As India is
much more genetically diverse —
with something like 5,000 ethno-
linguistic and religious groups
(castes and others), all of which
probably have some degree of ge-
netic distinctiveness — it needs a
larger survey to do justice to all In-
dians.
The genetic distinctiveness of
dierent Indian groups is in part
the result of endogamy. While we
cannot know the full impact of en-
dogamy in advance of a proper
survey, some recent research has
shown that endogamy is very like-
ly to be medically signicant.
Castes are not just “of the mind”.
The genetic implication of this is
that there are likely to be many re-
cessive diseases stemming from
single genes specic to individual
groups that can be identied.
Decreasing disease burden
This knowledge could then also be
quickly applied to the task of ma-
naging diseases in these groups as
well as be used for genetic coun-
selling that could reduce their inci-
dence in future generations. As an
example elsewhere, the founder
group of Ashkenazi Jews have al-
most eliminated TaySachs disease
from their population by such
means. Looking ahead a bit more,
with large samples the technique
of “genomewide association stu-
dies” that compare genomes of
cases and controls could be used
to identify genetic risk factors re-
lated to common diseases (such as
heart disease that stem from many
genes) that aect the health of ma-
ny more individuals. We would
like to emphasise that much of this
is simply a question of applying ex-
isting methods and could all be
done fairly quickly.
This is a good point at which to
note that such a survey of Indian
genetic diversity will be an impor-
tant asset, beyond disease genet-
ics. The data collected as part of
these eorts will also help to un-
cover the basic biological function
of genes and their interactions,
which are not yet fully under-
stood. This knowledge will be use-
ful to humanity worldwide and al-
so oer India a chance to claim a
piece of the global medical and
scientic frontier.
As a large part of the enterprise
would be the application of infor-
mation technology or “bioinfor-
matics”, the prospects of esta-
blishing viable commercial
enterprises with synergies to exist-
ing IT champions are also
promising.
What then is to be done?
As things stand there is certainly
progress under way. There has
been pathbreaking work in using
genomics to shed light on Indian
history, a small number of hospi-
tals are using genetic information
to help patients, and there is at
least one private sequencing com-
pany in India. But all of this activi-
ty is on a much smaller scale than
needed and is currently not gener-
ating the manpower required to
equip the next generation of med-
ical and research activities in the
area. What is needed is a coherent
push at the national level that in-
volves government, academic in-
stitutions, the existing healthcare
industry, the IT industry and the
nascent biotechnology industry.
This coherent push should aim to
set an ambitious but realistic ob-
jective of creating an Indian genet-
ic data bank, to promote academic
programmes that train scientists,
technicians and doctors in this
area and to create a regulatory fra-
mework that promotes broad ob-
jectives for both public and private
sectors without being selfdefeat-
ing.
The fact is that both genetic da-
ta and biological samples are easi-
ly transported across borders and
if Indian regulation is shortsight-
ed, it will simply cause Indian ge-
nomics to move abroad to places
such as Singapore. In this context
it is worth mentioning that the Ge-
nomeAsia 100K Initiative based in
Singapore plans to sequence
100,000 Asian genomes, includ-
ing some from South Asia. While
this is eminently worthwhile as it
will provide a broader panAsian
set of data, it would be important
to make similar investments at a
national scale quickly to avoid the
situation that this is one of the on-
ly enterprises to which Indians
can turn to.
All in all, the time is ripe for In-
dia to begin its own genomics re-
volution. The technical under-
standing and will needed to
launch this is present in India’s
scientic leadership, in medicine
and in industry. What is needed is
a vision and leadership at the na-
tional level to leverage this and
seize the day. Nothing less than the
very health of the nation is at
stake.