Pioneering personal sequencing projects unveil disease triggers

Taking advantage of lower cost genome sequencing technology, two independent teams of researchers have sequenced the genomes of sick patients to determine the precise genetic trigger to their disease and help point the way to a cure. And in the process, they may help revolutionize the way that sequencing research is being done to guide new treatments.

While a massive amount of work has been done to find common genetic triggers to diseases like cancer and diabetes, some scientists believe that individual cases are typically spurred by rare rather than common mutations. And now that sequencing costs have fallen to about $50,000 or less, scientists have begun to explore what they can learn about the genetic triggers in a single patient.

"We need a way of assessing rare variants better than the genomewide association studies can do, and whole-genome sequencing is the only way to do that," Dr. James Lupski, a medical geneticist with a rare nerve disease, tells the New York Times' Nicholas Wade. Colleagues sequenced his genome to find the gene that caused his ailment--an "obscure" gene dubbed SH3TC2.

A separate team in Seattle sequenced the genomes of two children and their parents to find the causative genes behind their single-gene diseases. Complete Genomics sequenced their genes at a cost of $25,000 each. The company is one of several that believe they can reap a fortune from the coming tidal wave of genome sequencing that will reshape medical research.

- here's the article from the New York Times