GenomeQuest Announces University of Iowa Researchers Select GQ-DxSM Decision Support System to Offer Consolidated Molecular Test for Inherited Deafness

WESTBOROUGH, Mass.--(BUSINESS WIRE)--GenomeQuest Inc., a global provider of large-scale genomic software applications, today announced that University of Iowa researchers in the Molecular Otolaryngology and Renal Research Labs (MORL) are utilizing GenomeQuest’s clinical decision support system, GQ-Dx^SM, to develop a first-of-its-kind molecular diagnostic test for individuals with hearing loss. The new diagnostic test screens in parallel all known genes associated with inherited deafness and will offer a significant improvement in time and cost over the current method of screening patients.

“Our implementation of GQ-Dx at the University of Iowa in collaboration with GenomeQuest demonstrates that precise genome-based diagnostics are practical and affordable for diseases that involve multiple genes and multiple molecular pathways”

“To diagnose and treat genetic hearing loss until now has required sequencing of genes one-by-one. In many cases a diagnosis is not achieved because there are at least 66 genes implicated in deafness,” said Eliot Shearer, a NIDCD Predoctoral Research Fellow and member of the MD/PhD program, at the University of Iowa’s Molecular Otolaryngology and Renal Research Laboratory (MORL). "If we’re to improve patient care by introducing personalized medicine, we need an analysis pipeline that provides one-click, streamlined data management to interrogate the sequence generated from these 66 deafness genes per patient."

GQ-Dx is the industry’s first clinical decision-support system for whole- and partial-genome diagnostics, and can be used to analyze and report information about variations and changes in genes and proteins to improve disease treatment. University of Iowa researchers are using GQ-Dx to compare a patient’s DNA with the human reference genome, known hearing loss mutations, and variations that are seen commonly in populations around the world. This will allow the MORL researchers to obtain a clinically relevant genetic blueprint of a patient’s specific cause of deafness.

Developed by MORL researchers and their colleagues at the Baylor College of Medicine, the OtoSCOPE test will reduce the time for comprehensive genetic diagnosis from one year to three months or less. The collaboration between GenomeQuest and the MORL will provide important clinical information for physicians and their patients concerning severity, progression and recurrence risk of hearing loss. It will also help direct treatment, including whether hearing aids or cochlear implants will be beneficial.

“What we discovered is that GenomeQuest’s GQ-Dx processes patient data and integrates with multi-gene databases with greater speed and flexibility than other analysis pipelines,” Shearer added. “And the reporting capabilities allow us to generate high-quality molecular diagnostic results that can be easily interpreted by clinicians.’’

GQ-Dx runs on genome center-scale secure computational infrastructure housed and maintained by GenomeQuest. “Large-scale diagnosis of genetic deafness is not feasible for a laboratory without the infrastructure in place to support management of large volumes of genomic data,” said MORL’s Dr. Michael Hildebrand, Ph.D., a UI post-doctoral scientist also working on the project. “Diagnosing a single patient generates several gigabytes of data that must be processed, analyzed and stored. As a result the MORL would need to upgrade its data storage and processing infrastructure every six months. GQ-Dx’s clinical decision-support system will reduce or even eliminate MORL’s time and expenses involved with that infrastructure.”

Inherited hearing loss affects 1 in 500 newborns. About 278 million people worldwide have moderate to severe hearing loss, and about two-thirds of hearing loss is inherited and can be caused by mutations in at least 66 different genes. “Our implementation of GQ-Dx at the University of Iowa in collaboration with GenomeQuest demonstrates that precise genome-based diagnostics are practical and affordable for diseases that involve multiple genes and multiple molecular pathways,” Hildebrand said. “MORL also intends to use GQ-Dx to develop a similar comprehensive molecular diagnostic platform for kidney disorders.”

The research and clinical initiative is led by Dr Richard Smith, M.D., the Sterba Hearing Research Professor and vice-chair of otolaryngology with University of Iowa Health Care.

About GenomeQuest

GenomeQuest is a global provider of large-scale genomic software applications. Based on a whole/multi-genome hosting platform, the company's products include GQ-IP for global research of genomic sequence intellectual property, GQ-Dx, the industry's first clinical decision-support system for whole-genome diagnostics, and GQ-Research, a research platform for teams to store, manage, and analyze genomic information at whole/multi-genome scale. GenomeQuest serves major pharmaceutical companies, global agriculture firms, biotech firms, IP legal groups, genome centers, academic research centers, diagnostic companies and labs, and universities around the world.