What a $1,000 genome could mean for medicine

Two biotechnology firms said Tuesday that they would soon offer machines capable of sequencing a human genome in about a day, at a cost of less than $1,000. Illumina Inc. and Life Technologies Corp. both announced that their new sequencers would come to market in the second half of this year.

Researchers have been waiting for the cost of sequencing a genome, an individual’s entire DNA blueprint, to fall to $1,000 for some time. The conventional wisdom has been that once the price drops to that point, it might become affordable for doctors to deliver “personalized medicine” -- to study patients’ genomes to make diagnoses and perfect medical care.

Cheaper access to genomes would also help researchers who are trying to figure out what genes cause particular traits, and why. One indication that achieving the $1,000 price tag would be a milestone: The Archon Genomics X Prize will challenge teams to sequence 100 full genomes for less than $1,000 apiece during a one-month period next year.

“The speed of sequencing and the affordability are really getting into the medical sphere now,” said Dr. Eric Topol, chief academic officer of Scripps Health in La Jolla, Calif. Until recently, he said, sequencing a genome “took a week -- now it can be done in hours. And it took $4,000 to send [the test] out; now this will get it down to $1,000. That’s a big jump.”

Topol said the rapid sequencing technologies would at first be most likely to affect researchers and physicians treating cancers -- who will now be able to sequence tumors to determine the best therapy for a patient far less expensively.

“This opens up all kinds of opportunities in genomic medicine,” Topol said. But he cautioned that it would be quite some time before whole genome sequencing would be a matter of course for everyone.

People are still uncomfortable contemplating their own genes, he added -- and many doctors remain uncomfortable with genetic information, too.