Life Technologies Corp. – a biotechnology company announced Tuesday that it has developed a machine to decode an individual's DNA in a day for just $1,000. The company said it was taking orders for the technology, which it expects to deliver in about a year. The Carlsbad, California, company said three major research institutions had already signed up for the $149,000 machine: the Baylor College of Medicine, the Yale School of Medicine and the Broad Institute of Cambridge, Massachusetts.
A second company, Illumina of San Diego, also introduced a new technology Tuesday that it said will decode an entire genome in about 24 hours. Its statement did not estimate the cost per genome.
The machines, called sequencers, allow scientists to identify the arrangement of the 3 billion chemical building blocks that make up someone's DNA. The $1,000 target has long been cited as a key step toward making the technique practical for doctors to use to help their patients, such as for revealing vulnerabilities to certain diseases or tailoring medical treatment. Sequencing whole genomes is now done primarily for research. It's different from the service some companies offer to consumers that cover just part of the genome or particular spots in it, such as for information on ancestry or disease susceptibility.
The $1,000 cost for a whole genome is about the same as many of today's lab tests, said Chad Nussbaum, co-director of the Genome Sequencing and Analysis Program at the Broad Institute. Tuesday's announcement is “bringing the DNA sequence closer” to being affordable and fast enough for doctors to use, Nussbaum said. If the machine works as expected, a doctor might send a patient's DNA to a lab and get useful information back in about a week, he said. Whether genomes from the new machine will actually cost exactly $1,000 will depend on how one calculates that figure, Nussbaum said. But even if it's just in the neighborhood, the technology could become widely adopted by doctors, he said.
Richard Gibbs, who directs the Human Genome Sequencing Center at Baylor, said, “We will see if the machines really perform as well as described" in terms of cost and accuracy. We're optimistic.”
Nussbaum emphasized that uncovering a deluge of DNA data about a patient is one thing, and being able to analyze it for useful information is quite another. “You've got to glean the news out of the genome and you've got to give it to the doctor in a usable way,” he said. The ability to do that analysis is still “a developing story,” he said. In the shorter term, the relatively low cost of the machine itself is important because it will let more research laboratories get into DNA sequencing, Nussbaum said.
Illumina will launch a new machine that can read a human genome in a little more than a day, dramatically faster than its current market-dominating machine. The announcement was made by Illumina chief executive Jay Flatley at the JP Mogan Healthcare Conference in San Francisco.
Speaking on differences with its main competitor Flatley says, Illumina’s machine, will cost $740,000, and will be available as an upgrade to the company’s current $690,000 machines. It will provide scientists with exactly the kind of data that researchers have come to expect: right now, 90% of DNA base pairs that are sequenced are read out off of an Illumina machine. Diagnostics businesses like Genomic Health and Sequenom are already making use of it. “If you want to do large-scale sequencing of human genomes, Illumina is the way to do it.” But the Life Technologies Machine, dubbed the Ion Proton, will cost just $150,000, a dramatic drop in entry cost that may itself entice some scientists at a time when the National Institutes of Health is expected to cut funding.
“The speed is good, but the cost is going to be a blocker,” for the new Illumina machine says Nusbaum. “We’re in a world where you can buy a machine for a lot less. Now machines are getting cheap again, and I think that is what the world is going to expect. Otherwise it costs you too much to get in the game.”
“I'm a big proponent of bringing genetics into the clinic,” says Thomas Quertermous, chief of the division of cardiovascular medicine at Stanford University and an expert in the genetics of heart disease. “But it has to be done in a timely way, and not before its time.”
Babies might be first in line for whole-genome sequencing. Every state requires newborns to be screened for at least 29 genetic diseases. “If the cost of whole-genome sequencing gets sufficiently low, you could sequence all the genes in a newborn” for less than the individual tests and follow-ups required when one comes back positive, says Richard Lifton, chairman of the genetics department at Yale University. “I'm increasingly confident that's going to happen. But we need to be careful how we utilize this information. Do you tell a newborn's parents his apoE status” -- that is, whether he has the form of a gene that raises the risk of Alzheimer's disease?
Knowing a patient's whole-genome sequence, even if it raises the risk of diseases by only a few percent, might lead malpractice-wary doctors to order follow-up tests, feel some experts. If someone's genome suggests an elevated risk of heart disease, for instance, a physician might feel compelled to order regular cardiac CT angiograms, which cost $1,500 or more. That would not only raise health-care costs, but might put patients through a physically and psychologically onerous ordeal unnecessarily.
“There is no evidence that 'positive' (DNA) tests, based only on the screening for common genetic variations, will justify a specific medical follow-up and procure a medical benefit to individuals,” argues geneticist Thierry Frebourg of University Hospital in Rouen, France in a commentary in an upcoming issue of the European Journal of Human Genetics. Instead, whole-genome sequencing might join the ranks of diagnostics, such as PSA tests for prostate cancer, that cost tens of millions of dollars a year but do not benefit patients, let alone save lives.
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