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Wash U, Rare Genomics Institute Launch 99 Exome Challenge, Clinical Exome Sequencing Service


In conjunction with Rare Disease Day, Washington University School of Medicine's Genomics and Pathology Services and the Rare Genomics Institute said today that they will award grants for the sequencing of 99 exomes to rare disease advocacy groups.

The goal of the Rare 99X Clinical Exome Challenge is to use exome sequencing to better understand the molecular causes of rare disease. Interested applicants should submit letters of interest by April 2, with more in-depth grant proposals from selected applicants by June 1, and final award decisions made by July 2.

Additionally, GPS plans to launch a clinical exome sequencing service through its CLIA- and CAP-accredited laboratory, although details about that service are still being worked out. Karen Seibert, director of GPS, said that the clinical exome sequencing service would likely be applied to clinical research studies first, and later to diagnose individual patients' disorders.

Seibert added that GPS also plans to launch new disease-specific sequencing panels, including one for cardiomyopathies, to augment the 28-gene cancer panel that it already offers (CSN 11/30/2011).

Wash U's GPS will do all the sequencing for the 99 exomes and the Rare Genomics Institute will help with patient coordination and education. Jimmy Lin, a founder of RGI and a research instructor in pathology and immunology at Wash U's School of Medicine, said clinical interpretation support and genetic counseling would be provided to the 99 patients, as needed.

He anticipates that the grant recipients will have varying degrees of genomics expertise, so the amount of support required would vary. The awards will be made based on whether the team thinks “sequencing could contribute to understanding disease in a significant way,” Lin told Clinical Sequencing News.

One project could be awarded all 99 exomes, or 11 different projects could be awarded nine exomes each, or three trios, or any combination, he said.

Lin said decisions have not yet been made on how the team will deal with return of results, and said that could vary on a case-by-case basis, depending on the institutional review board protocol.