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GenomeQuest Unveils Industry’s First Clinical Decision-Support System for Whole-Genome Diagnostics

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Whole-Genome, Whole-Exome, and Gene Panel Processing

•    Automated transfer of raw data from sequencing machines
•    Alignment of the reads against reference genomes
•    Variant detection and annotation

Diagnostic Reporting

•    Mapping and documentation of variants against known inherited and somatic mutations
•    Integration with other clinical data systems such as Electronic Health Records and therapy protocols to create a comprehensive patient diagnostic record
•    Customized reporting

Diagnostic Research

•    Comparison against other datasets and patient population studies
•    Interactive querying of reads, variants, and comparison results
•    Access to research workflows such as RNA-Seq, Whole Genome Analysis, ChIP-Seq, and    Bacterial/Viral Detection
•    A “learning system” to capture, manage, and reapply new findings

“With whole-genome sequencing advancing to practical use, we see that the next roadblock is the effective clinical application of the emerging discoveries and vast amounts of data,” said Richard Resnick, GenomeQuest’s chief executive officer. “GQ-Dx makes use of the aligned advancements in sequencing, bioinformatics, computing, and medicine to deliver whole-genome molecular diagnostics. Just as the industry has been able to reduce sequencing time and cost, GenomeQuest has addressed analysis time and cost so that researchers can finally take data from the bench and apply it at the bedside quickly and cost-effectively.”
GQ-Dx runs on genome center-scale, secure, cloud-based computing infrastructure housed and maintained by GenomeQuest. This service-based software option requires no capital or infrastructure investment and offers simple administration for diagnostic organizations. Optionally, customers can install GQ-Dx in their data center behind their firewall. Diagnostics users access all processing, reporting and research features via the Internet from their desktop or smart device.

Approximately $5 trillion is spent annually on global health care, about 65% of therapy decisions are based on the results of diagnostics tests, and molecular diagnostics are the fastest-growing segment of the diagnostics market. Major diagnostic advances enabled by whole-genome sequencing immediately supported by GQ-Dx include consolidation of existing molecular tests, extensive pharmacogenomic screening, and a new generation of discoveries in diagnosing complex, multi-gene disorders.

Resnick added, “While we are enthusiastic about the future growth of whole-genome diagnostics, we foresee an evolutionary path to its realization and full rewards. Today, we’re talking to researchers and labs about immediate and exciting application areas including whole-exome diagnostics, consolidated gene panels, and targeted NGS-based diagnostics.”

Designed for academic research laboratories, diagnostics labs, IVD manufacturers, and pharmaceutical companion diagnostic groups, GQ-Dx is already being used in clinical research. In collaboration with GenomeQuest, pathologists at Beth Israel Deaconess Medical Center, a teaching hospital of Harvard Medical School, are developing “clinical grade” annotation methods and databases for cancer diagnoses. In February, GenomeQuest created a GeneTests-based diagnostic panel that generates a comprehensive report on disease susceptibility, diagnosis, and treatment on more than 2,000 disorders from a single, whole-genome sequence of a patient.

Also today, researchers at the University of Iowa have announced their decision to use GQ-Dx to make available to clinicians and patients for the first time a consolidated molecular diagnostic test for inherited deafness. This new approach leverages next-generation sequencing (NGS) gene panel diagnostics to pinpoint the cause of and treatment for this multi-gene disorder in one comprehensive test rather than multiple tests. Called OtoSCOPE, the test reduces their estimated cost of comprehensive diagnosis from $75,000 to just $2,000 and reduces the time for treatment decisions from one year to four weeks. GenomeQuest believes that other multi-gene disorders that are ripe candidates for consolidated testing include HIV and hepatitis C, Alzheimer’s, cardiomyopathy, coronary artery disease, myocardial infarction and colon cancer.

Gerry Higgins, Ph.D., GenomeQuest’s Healthcare Innovation Officer added, “Whole-genome sequencing has placed us on an accelerated path to understanding the genetic drivers in complex diseases. I anticipate continued major progress in oncology as well as in cardiology, neurology, psychiatry, and other medical specialties. What is particularly fulfilling to me is to work with clinical research organizations that immediately translate discoveries into vastly improved healthcare — accurate diagnosis and, in many cases, targeted treatment for patients.”