in Genetic Testing
-Sandeep Saxena, founder
and CEO, Acton Biologicals
In the next five years, we will be talking in terms of our genes, like
we talk in terms of our mobile phones today. In 2015, conversations
like “I have 5MP camera and palm operating system on my
mobile” will change as “I have a gene to be an
athlete and a gene for baldness”. This is going to be a big
opportunity for people in healthcare, pharmaceutical, research,
diagnostics and it also poses great challenge to people regulatory
affairs, insurance and the mass population. Owing to the crashing
genome analysis prices, by 2015, it might be possible to do the whole
genome analysis of an individual for less than Rs 1,000.
1865 - Mendelian genetics
1953 - Watson and Crick’s DNA structure
1977 - Frederick Sanger’s DNA sequencing
1983 – Polymerase chain reaction
1990 – Human genome project initiated
1996 – Dolly, the sheep was born
1998 – Microarray chip
2003 – First human genome sequence revealed
2008 - $1,000 genome
Right now, the market focuses on animal genetics, plant genetics,
pathogen genetics and basic research, but in the long term human
genetics will gain prominence. Even though the human genome project was
completed in 2003, we still do not know the exact number of genes we
have. Some say it is 19,000 while others still consider it as 30,000.
We all differ from each other because of the variation in
single-nucleotide polymorphisms (SNPs), copies number variations, gene
expression, and epigenetics.
For the past two decades, huge investments are made in research and we
have lots of useful data today. We can screen your DNA and tell, with
good amount of accuracy, where your ancestors came from, the best
career for you, the kind of food you should be eating, and the types of
diseases you might suffer from and how can these be prevented or
postponed. We have not yet reached a stage where we can modify the
defective genes or have designer baby to have all the good genes? Sure,
we are still far far away from that day, but the snow ball has started
rolling. There are large genetics testing infrastructures available in
all major cities in India.
Global research centers are studying the unknown aspects of the human
genome and doing population genetics. Large IT infrastructure is being
used for bioinformatics. And clearly the focus is on human genetics.
Thousands of individuals are being sequenced for thousands of genes in
multiple countries. A lot is already known and hence, doctors are
requesting for more and more genetic tests for their patients. Healthy
individuals are reading about this subject and are sitting on the
fence. The day a company offers a reasonable sequencing service, they
are going to get themselves tested and flaunt their genes.
So far, the major users of this information are equipment
manufacturers, research centers, pharmaceutical companies, diagnostics
centers, very small number of service provides and a small number of
end users. The global industry of human genetics services is estimated
to be worth $20 billion and the Indian industry will be Rs 50 crore.
But over the years this is going to change drastically. There will be
more and more service providers, offering a wide variety of services,
to a large number of human beings. Each person will come with a
different budget, different information need, and different
application. Rich families will like to know everything about them,
companies will like to know about their new employees, parents will
like to know about their new born kids, insurance companies will like
to know about their clients, and doctors will like to know about his
Organizations to watch
out for in 2009
The companies like 23andMe, DeCode Genetics and Navigenics have been
the leaders offering genetic services at $1,000. These companies have
built huge infrastructure with cutting edge equipment, huge population
databases, bioinformatics suits and marketing muscle to offer their
services to the global populations. Their offerings are overwhelming
from the technology side, but they might fail to excite a rich person
in India. Logistics and commerce are the other hurdles that these
companies will need to work on especially in India.
Taking a sample, analyzing it and giving a report are the strong foot
hold for diagnostics companies. Large diagnostics laboratories like
LabCorp, Mayo Clinic and Myriad Genetics are investing heavily, but
have failed to be as aggressive as the genetics focused startups. But
these companies that missed the bus are fast catching up, and encashing
on their logistics network, experience and relationships with masses.
Applied Biosystems, Illumina, Affymatrix, Sequenom and a couple of
other companies are the most aggressive players pushing technology to
the edge. They have been dropping the price and speeding up reports.
Just to give you an example, the first human to get sequenced, was done
at a price of $3 billion. The second person was sequenced at a price of
$500 million in two years, and the third at a price of $100 million in
less one year, the next target is to sequence a person in one month for
$10,000. Broadly these equipment companies offer competing products,
buy their application differ greatly. Illumina uses a bead-based
platform, while Applied Biosystems and Affymatrix use the microarray
platform. Sequenom uses mass spectrophotometry (MS) based technology.
Though the exact number of machines installed by each of these
companies in India is not known, India has the best of these machines
from all these companies.