GenomeQuest Advances Whole Genome Sequencing to Clinical Diagnostics Reporting

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GenomeQuest today, from the Advances in Genome Biology and Technology annual meeting, announced a significant step forward in the application of whole-genome sequencing (WGS) to clinical diagnostics.

Combining the global GeneTests resources with GenomeQuest's whole genome sequencing analysis technology to better inform genetic diagnosis is an excellent example of vibrant and practical near-term progress in personalized medicine.

GenomeQuest today, from the Advances in Genome Biology and Technology annual meeting, 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. As a result, clinical practitioners can 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.

GenomeQuest CEO, Richard Resnick, comments, “We believe whole genome and exome diagnostics are destined to become the most precise, cost-effective, and universal test for genetically understood diseases. Whole genome and exome diagnostics allow for laboratories and clinicians to perform every known genetic test in the GeneTests compendium in one single protocol that costs about as much as a single genetic test. And the richness and advantages only expand as peer-reviewed science uncovers new pathogenic genetic variations.”

Roberta Pagon, MD, Founder and Principal Investigator of GeneTests and Professor, Department of Pediatrics, University of Washington School of Medicine, Seattle, comments, “GeneReviews authors come from an international community of clinicians committed to improving patient care by making available their knowledge of human genetic disease. Any industry effort that multiplies that sharing and supports our mission of promoting the appropriate use of genetic services in patient care and personal decision making is compelling.”

Richard K. Wilson, Ph.D., Director of The Genome Center at Washington University, adds, “My colleagues and I have long discussed and invested in genome-guided medicine. We're clearly entering a period of reward where critical new resources are becoming available and significant new methodologies and benefits to health care are achievable. Combining the global GeneTests resources with GenomeQuest's whole genome sequencing analysis technology to better inform genetic diagnosis is an excellent example of vibrant and practical near-term progress in personalized medicine."

GenomeQuest can also be used as a WGS diagnostic development platform by diagnostic companies, research hospitals, and pharmaceutical companies. Resnick explains, “GenomeQuest and WGS allows researchers to develop diagnostics in pure software—an advance which adds immense precision and efficiencies to the industry. Software algorithms armed with whole genome data can fully capture and assess the increasingly complex genetic factors of diseases. And genetic research breakthroughs are delivered far faster and cheaper through software updates than by producing whole new diagnostic machines and reagents.”

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 news 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.

In an article on this collaboration from the Dark Report, providing news and analysis to medical laboratories, Mark Boguski, M.D., Ph.D. of BIDMC, observed, “In the last couple years, we’ve come to the realization that WGS is going to make its biggest, earliest impact in precision diagnostics for personalized medicine.” He added, “Currently, companion diagnostics are characterized by individual, narrowly focused technology platforms with a proprietary set of reagents. However, in the future, molecular diagnostics will simply be the software filters and algorithms applied to whole-genome or transcriptome data.”

The new WGS diagnostic reporting will be available on February 15, 2011. Please email wgsdiagnosticsreport(at)genomequest(dot)com for more information and to pre-register.

A global press teleconference for science and business editors with a full demonstration and Q&A is scheduled for February 8, 2011. Please email press(at)genomequest(dot)com to attend.

GenomeQuest will host an industry panel on this topic for diagnostic researchers and developers at the upcoming Molecular Medicine Tri-Conference in San Francisco on February 23, 2011, at 4:00pm.

More information on GeneTests, including: its editorial and advisory board; a listing of the over 500 practicing physicians, clinicians and genetics professionals who serve as disease experts and authors; the editorial and update process, and the full online GeneReviews database is available at http://www.genetests.org, an NCBI-hosted website.

About GenomeQuest
GenomeQuest, the global leader in sequence data management, helps life science organizations realize the full promise of genomics. Over 160 leading health and agriculture companies use GenomeQuest for mission-critical work, including nine of the top ten pharmaceuticals. The core technology of the company is the GQ-Engine—a sequence database engine that is purpose-built for storing, managing, and analyzing sequence data at whole- and multi-genome scale.

Learn more at http://www.genomequest.com .

Contact: Dana Wormer, +1 215.222.6110

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