Gene Mapping Reaches Major Milestone

For years, scientists have been talking about the era of personalized medicine. While many preparations are underway, the biggest hurdle to widespread adoption has been the prohibitive cost to read a person’s entire DNA. Our genetic code provides a full road map to preventing and treating disease. We just don’t know how to read it yet.

Since the first entire human genome was sequenced in 2000, the price and time it takes has tumbled into affordability.

But the entire biotechnology industry has rested on the belief that personalized medicine won’t work until it takes a day or less to map a whole human genome and the cost reaches the $1,000 price point.

Well, 2012 is the year. At this week’s Consumer Electronics Show in Las Vegas, Life Technologies unveiled its latest gadget, a $150,000 high-speed gene sequencer, which allows entire human genome sequencing for $1,000 per genome.

Outfitted with a semiconductor chip instead of tiny microscopes, the Benchtop Ion Proton sequencer is ready to read our DNA fast and cheap. That means this technology will quickly move from the research lab to the doctor’s office where patients will pay a little more than the $1,000 it costs to sequence a full genome.

There are companies already doing some high-speed, fast-turnaround gene sequencing. But they rely on just pieces of a genome, looking for particular markers to identify risk for specific diseases. No company until now has been able to run a full genome for $1,000 in less than a day.

Life Technologies’ Dr. Robert Bennett says, “For the first time, you’ll be able to sequence an entire human genome in a matter of a few hours.”

Immediately following the announcement, the company said that Baylor College of Medicine, Yale School of Medicine, and The Broad Institute have signed on as the first three customers of the new semiconducting gene sequencer.

Dr. Richard Gibbs, Director of the Human Genome Sequencing Center at Baylor says, “A genome sequence for $1,000 was a pipe-dream, just a few years ago.”

Not to be outdone, another company that builds gene sequencers also just announced that its new generation of machine will read an entire genome in less than 24 hours. Illumina hasn’t announced how much it will cost on a per genome basis.

It’ll be a year or so before these lightweight machines will begin showing up in doctor’s offices. But when they do it is still unclear what running a person’s genome will show.

Doctors must first be trained to use the new technology. The power of personalized medicine and the promise of rapid, inexpensive gene sequencing lies in being able to identify genetic mutations to make medicine more effective, reduce drug interactions, improve preventive health and give the patient more information about his or her health.

But this kind of broad ability could also open up a pandora’s box of privacy concerns. Namely, how much of a person’s genetic information should be accessible to insurance companies, which conceivably could discriminate against people with predisposed genetic risks for certain diseases.

Regardless of any controversy, reaching the genome milestone of $1,000 per genome is changing the face of medicine forever.

Richard Lifton, Chair of the Department of Genetics at Yale School of Medicine says, “The technological advances in the new instrument promise to be game-changing for both research and clinical applications.”