New CMU Research Project Looks at a Persons’ DNA as Diagnostic Tool

Jan 16, 2012

A new DNA sequencing machine from Ion Torrent, a unit of Life Technologies Corporation, makes it possible to analyze a person's entire genome in just one day for $1,000. Previously that would take weeks and cost about $10,000, making it an impractical diagnostic tool.

Now that the cost and time have decreased, researchers at Carnegie Mellon University, Yale, and Baylor will study whether the technology can be put to practical use.

"Ultimately the idea would be that you could have a system that a physician would feed your personal genome sequence into and it would tell you things like whether you're likely to get diseases or if you do get a particular disease you're likely to respond to one treatment or another," said Robert Murphy, professor and head of the Lane Center for Computational Biology in Carnegie Mellon's School of Computer Science.

Currently, there are some diseases, or changes in genes, that are very easily recognizable through genetics. In some cases, a single gene causes you to definitely have, or very likely have, a particular disease. Murphy said you don't need advanced machine learning approaches to discover those genes, but things get more complicated when there are multiple changes in genes that combine together to cause a disease.

"Or even combine together to cause multiple symptoms, and those symptoms together cause a disease. And those kinds of complex diseases, we can't just readily see from just looking at sequences of normal patients or patients with a particular disease," he said.

Murphy will lead a multidisciplinary team of researchers examining whether this can be done. Ion Torrent is sponsoring the project during its first year, and more funding is expected to come through federal grants and other sources.