GenomeQuest, a US-based provider of sequence data management (SDM) products, has announced a significant step forward in the application of whole-genome sequencing (WGS) to clinical diagnostics. Specifically, the company has integrated authoritative genetic information for diagnosis into its sequence data management and analysis platform. The announcement was made at the Advances in Genome Biology and Technology annual meeting, being held in Marco Island, Florida, from February 2-5, 2011.
Clinical practitioners can now interactively produce and query a patient report for genetic tests spanning over 2000 inherited diseases from a single whole-genome or exome sequence. Based on expert, peer-reviewed disease information from GeneTests, the report includes susceptibility and diagnostic guidelines for found variations including: history and prevalence, genetic pathogenesis, prognosis and traits, differential diagnosis, prevention, recommended testing and evaluations, treatments, carrier testing, testing of relatives, prenatal testing, and reference materials. Covered diseases include Alzheimer's, Multiple Sclerosis, Huntington's, hereditary hearing loss and deafness, hereditary breast cancer, and many others.
The new GenomeQuest diagnostic reporting works on a single sample or a database of samples from patient groups, facilitating diagnostic research in large population studies.
This follows the announcement at the October 2010 World Health Forum that GenomeQuest and Beth Israel Deaconess Medical Center (BIDMC), a teaching hospital of Harvard Medical School, are collaborating to develop whole-genome applications to enable doctors and patients to make use of predictive genomic information.
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