Low-cost DNA reader announced: What does it mean for patients?
(CBS/AP) What will it take to decode your own DNA? A couple of years ago, it would have taken several months and several thousands of dollars. But on Tuesday came the announcement of genome-sequencing machine that will decode a person's genome for about $1,000, a long-sought price goal, the Associated Press reports.
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The Ion Proton Sequencer, by Life Technologies Corp., is priced at $149,000 and is designed to analyze a single genome in a day. The Carlsbad, Calif., company said three major research institutions have already signed up for the machine: the Baylor College of Medicine, the Yale School of Medicine and the Broad Institute of Cambridge, Mass. Another company, Illumina of San Diego, also introduced a machine Tuesday that it said can decode an entire genome in 24 hours - but did not estimate the cost.
"We will see if the machines really perform as well as described," said Richard Gibbs, director of the Human Genome Sequencing Center at Baylor.
A person's DNA consists of 3 billion chemical building blocks. The machines, called sequencers, identify the arrangement of these building blocks.
The first sequencing of the basic human genome was announced at the White House in 2000, and since then, costs of sequencing have steadily decreased - $1,000 has long been the target. This cost is about the same as for many of today's lab tests, Chad Nussbaum, co-director of the Genome Sequencing and Analysis Program at the Broad Institute, said.
What does this mean for doctors? It's a big step in revealing vulnerabilities to certain diseases, or tailoring medical treatments. It's not only affordable, but also fast enough for doctors to use - they can send a patient's DNA to a lab and get information back in a week, Nussbaum said.
But uncovering information about a patient's DNA and being able to analyze the information for good are two different things. "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," said Nussbaum. And the ability to do that is still "a developing story."
What information can a doctor glean from a genome reading? A person could conceivably see if they have genes associated with diseases including Alzheimer's, breast cancer, prostate cancer diabetes, Parkinson's, heart-related conditions, among many others. But the ability to diagnose these diseases raised ethical questions for some experts.
"We need to be careful how we utilize this information," Richard Lifton, chairman of the genetics department at Yale University, told Reuters. "Do you tell a newborn's parents his apoE status" - Lifton asked about the genetic marker for Alzheimer's. Other experts wondered if a negative finding for a cancer-related gene would make people less likely to get screened for cancer or take care of their health.
The cost of the machine alone is a breakthrough because it opens up the doors of DNA sequencing. "A genome sequence for $1,000 was a pipe-dream, just a few years ago," said Gibbs in a written statement. "A $1,000 genome in less than one day was not even on the radar, but will transform the clinical applications of sequencing."
