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Bio Saga

Thursday, February 6, 2014

Program Initiated to Offer Whole-Exome Sequencing to Rare Disease Patients for Free

One more story in our very own GATTACA SAGA!

Patient advocacy groups Global Genes and Swan USA announced on Tuesday a program to provide whole-exome sequencing to patients with rare diseases who cannot afford such services.

Beginning March 1, Global Genes and Swan USA will provide funding for the whole-exome sequencing of about 30 undiagnosed patients in order to identify the genetic bases of their ailments. Parabase Genomics and the UCLA Clinical Genomics Center were selected as the first clinical genomic sequencing providers for the pilot project.

Global Genes is a rare and genetic disease patient advocacy group, and Swan USA provides support to families of children living with diseases and syndromes that have yet to be named. According to them, a genomic test costs between $3,500 and $5,000.

The financing for the program was raised through a donor-directed fund launched in September, and additional funding is underway in order to expand the program to include more undiagnosed patients, the partners said.

Boston-based Parabase is a privately held molecular diagnostics firm focused on genetic disorders that affect newborns and children. Its LifeTime Tests provide a rapid, non-invasive method for the diagnosis of genetic conditions, and for the Global Gene-Swan USA program Parabase will use it LifeTime RareDx Test.

"One of the challenges with translation of next-generation sequencing to newborns and children is the long time it takes to get results," Parabase CEO and Scientific Director Andy Bhattachariee said in a statement. "We have developed a complete workflow from blood to a medical report in [two to four] weeks, and our plan is to shorten this timeline to a few days."

The UCLA Clinical Genomics Center is the West Coast sequencing provider in the program.

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