As the price of mapping a person's genome has dropped from a quarter million dollars to $6,000 over the last few years, the need to interpret those results has grown. And Knome, a Cambridge, Mass.-based company has created a computer outfitted with software that can do just that.
The appliance, called the knoSYS (TM) 100 and priced at $125,000, is the size of a filing cabinet, and can parse DNA data from sequencing companies such as Illumina and Complete Genomics to look for variations that could be important. Labs that order it can pay an additional, annual fee of $25,000 to get technical support and software updates.
Several researchers are considering ordering it to be able to search for the genetic relationship to cancer and rare diseases.
For instance, Lee Watkins Jr., director of bioinformatics at the Center for Inherited Disease Research at Johns Hopkins University, told The New York Times that he is considering buying one because of the privacy it offers to the people whose genetic data is being handled: “You have control over it physically within your walls and logically within your network,” he said. “Everyone’s DNA is a very personal thing.”
Dr. Stephen Liggett, director of the Center for Personalized Medicine and Genomics at the University of South Florida, has ordered a knoSYS 100 because of the speed that the machine offers in results. “When you would like to get genetic information quickly interpreted, and take it to the patient, this machine is right there,” he told the Times.
Dr. Eric Topol, a professor of genomics at the Scripps Research Institute in La Jolla, Calif., and author of “The Creative Destruction of Medicine,” cautioned that the information produced by the machine would still require analysis by people trained in molecular biology and genetics.
Jonas Lee, senior vice president of marketing at of Knome, says that the device is designed for those trained to interpret the machine's output, and should make their jobs easier "by giving them all the tools they need to do so in one integrated system."
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via: The New York Times
photo: Courtesy of Knome