Getting Genome Sequenced at Rs 50K

The cost of genome sequencing has been falling dramatically, nearly a million-fold in the last six-seven years. Earlier this year yet another milestone was reached when Life Technologies announced that its latest gene sequencing machine, Ion Proton, could decode a human genome for as little as $1000, and in just a few hours. That’s a game changing development. So when I met its Chairman and CEO Gregory T Lucier recently, my first question was: Are we going to get our genome sequenced for $1000 in India?

“Yes, in a year from now you can get your genome sequenced for Rs 50000,” he said.

Well, that’s really good news (not because I intend to get my genome sequenced) because availability of such portable (akin to a desktop printer) and affordable technology would mean the associated procedures and the missing innovation ecosystem would begin to fall in place. Initially, it’ll be government labs and high-end medical centers where we could expect more gene sequencing to happen. Soon, it should spread to routine medical centres, after all it’s widely believed that genetic testing is going to explode. Virtually all the gene tests that we have today, be it KRAS (for colon cancer) or BRAF (for lung cancer) are single gene tests. That’s going to extend to large regions of the gene, let alone the whole genome.

“I don’t think India is going to be two steps behind the developed world,” says Lucier. A valuable use of this technology -- and that’s what he is convincing the Indian policy makers about – is to includiegenetic testing in crime control and terror fighting, just as countries like US, Brazil, Japan, China, Western Europe and others use it to stop repeat offenders.

But to my mind, it’s in the healthcare space that the falling sequencing cost, booming bio-medical data and entrepreneurial talent are making a difference. We’ve had many false starts but this time around technology and science are converging. In the last four years we've come to know more about cancer genetics than we knew in the last 30 years.

Imagine all primary or secondary healthcare centers having this routine test – a chip that can screen all new born babies for a set of inherited diseases so that nobody goes on some unknown medical odyssey.  Take another instance. What if in a routine practice, a cancer patient can get the tumor sequenced and have the doctors tailor-make the treatment for him, choosing from both established and experimental drugs?

A study in Nature Medicine recently showed that more than half of lung and colon cancer patients can benefit from high-end DNA tests that detect flawed mutations. A Cambridge, Mass, start-up Medicine Foundation is doing precisely that – enabling personalized cancer medicine.

Lucier says he wants to work with the Indian government and private institutions to develop tools that lead to “therapies that would otherwise take a billion dollar to develop in the West”. The company has invested $10 million in India operations in the last two years and is ready to start a venture capital fund now to support start-ups that work in this area. (We don’t even have half a dozen home-grown start-ups to count in this field.) He sounds pretty convincing in all of these but what about the hype around the wellness concept – sequence the genome of healthy people to prevent diseases? Is that a Western fad?

He doesn’t deny that whole genome sequencing of healthy people will increase but that’s “not the big market, though that certainly gets more media.” The big market is in therapies as every disease at some level starts out genotypically, he says. “We’ll start with cancer then move to digestive tract, nervous system and other diseases. But cancer is certainly one disease where this technology can have the most impact in the very immediate term.”

When I insisted that whole genome sequencing, for an average person like me at least, still looks somewhat faddish, (let alone the scope for unnecessary anxiety that is now seen to be associated with PSA tests in prostrate cancer in the US) he threw a scenario at me:

“You are successful, you make good bucks. Suppose you get cancer. Would you spend Rs 50,000 to get your genome sequenced?”

As we live longer, one in four humans will get cancer in their lifetime (a statistics validated in the West). So I don’t think what Lucier threw at me is hypothetical.But until I come to that cross-road, I’d rather not see what secret the three billion base pairs hold for me. Life is good without it!

The thoughts and opinions shared here are of the author.