Genome unraveled with new speed

ST. LOUIS – The two 3-by-1-inch glass chips held the unfathomable amount of genetic information contained in 16 human genomes. Last week, a technician placed the chips — called flow cells — in a new genetic sequencing machine at the Genome Institute at Washington University and closed the door.

In just three days, the task will be complete.

It's mind-boggling given that it took scientists working all over the world more than 10 years and about $1 billion to first sequence the human genome, a feat declared officially complete in 2003.

This ultrafast sequencing machine, which hit the market last year, is only sold in groups of 10 — a system capable of sequencing 18,000 human genomes a year at just $1,000 to $1,500 per genome.

Washington University's Genome Institute is receiving its 10th HiSeq X machine, each one costing $1 million.

The massive increase in speed and drop in the cost of sequencing allows scientists to take on studies of unprecedented scale, which is necessary to make the conclusions and discoveries about human disease that doctors can put into everyday practice with personalized treatments.

"We have an opportunity to push genomics into the clinic and understand what causes disease and ultimately learn how to predict disease," said Rick Wilson, director of the Genome Institute.

When the technology was first announced last year, quantitative biologist Michael Schatz of Cold Spring Harbor Laboratory in New York likened it to the development of the telescope or the microprocessor, which made the modern personal computer possible.

Schatz told the scientific journal Nature, "If there was any doubt that genomics would ever be able to reach the everyday man, at this price point and efficiencies, it is absolute certainty."

What in our genes causes us to have arthritis, diabetes or a cancer that doesn't respond to treatment? To uncover the answers in the 6 billion bases of DNA that make up the human genome requires sequencing populations. "If you have 10,000 people with Alzheimer's and 10,000 people who never, never showed signs of the disease, the idea is that you could sequence both those groups and learn something about Alzheimer's," Wilson said. "Because every human is different from every other human, you can't do that with just five people with Alzheimer's and five people without. You won't have enough data to pinpoint the differences."

That is the reason the new sequencers are sold in groups of 10, said maker San Diego-based Illumina.