GQ-Dx 2.0 Helps Laboratories Deliver Fast, Accurate, and Actionable NGS Diagnostics to the Clinic
WESTBOROUGH, Mass., Feb 23, 2012 (BUSINESS WIRE) — GenomeQuest Inc., a global provider of large-scale genomic software applications, today introduced new enhancements to its GQ-Dx genomic decision support system that enables molecular laboratories to produce routine, actionable diagnostic reports from next generation sequencing (NGS) runs. Highlighted by a proprietary genomic knowledge engine, GQ-Dx 2.0 transforms NGS diagnostics from slow, labor-intensive odysseys into daily, healthcare operations. As a result, healthcare professionals can now offer this new generation of diagnostics to patients today.
“The fact that NGS technology is becoming faster and cheaper is irrelevant to the clinic if molecular labs cannot quickly analyze millions of variants to make specific, repeatable diagnoses. Manually identifying key genetic variation that has specific, well-characterized clinical relevance takes days for even the most sophisticated laboratories–too slow for clinical decision making,” said GenomeQuest CEO Richard Resnick. “GQ-Dx solves this by combining the most sensitive variation detection algorithms with a continually updating knowledge engine of genomic associations and powerful querying capabilities to find answers faster and more confidently. This is an important next step in making the promise of NGS diagnostics a reality.”
GQ-Dx makes this possible with four core features:
— A global knowledge base of variant associations–that proactively collects genomic data from more than 10 sources including GeneReviews, GeneTests, NCBI, dbSNP, OMIM, COSMIC, HGMD, SIFT, Polyphen, as well as knowledge specific to the laboratory’s guidelines and protocols. GQ-Dx’s underlying knowledge engine automatically inherits and applies all new associations into the knowledge base — activating each “genomic fact” as a queryable field.
— An interactive knowledge browser–that can simultaneously query a multitude of science/medical fields and deliver results in minutes or hours, versus the typical days and weeks. More than 20 searchable native fields include gene names and synonyms, HGVS nomenclature, exon localization, predicted protein impact, predicted pathogenicity, zygosity, relation to existing genetic tests, observed allelic frequencies, dbSNP identifier and content, quality control, and more. Notably, labs can modify native fields (e.g. different labs may have different boundary definitions for splice sites) or add entirely new fields such as phenotype associations (e.g. ethnicity sub-categories) or potential epigenetic modifications (e.g. exposure to certain toxins).
— A clinical diagnostic reporting system–supports the consolidation of existing molecular tests and panels into clear, actionable reports that can be clearly interpreted by healthcare professionals and stored in electronic medical records.
— State of the art variant detection–enables laboratories to quickly identify and analyze clinically meaningful SNPs and indels up to 50 base pairs in length, at genome-scale.
Emory Genetics Laboratory Advancing NGS Dx with GenomeQuest
“GQ-Dx helps our lab automate the once manual process of aggregating, curating and managing annotation data so we can focus on interpretation,” said Madhuri Hegde, Ph.D., FACMG, Associate Professor at the Emory University School of Medicine Department of Human Genetics and the Scientific Director of the Emory Genetics Laboratory. “Our goal is to improve the time it takes to interpret results by 50% per patient. In addition, GQ-Dx enables us to generate consistent, customized reports ensuring everyone has access to the same knowledge to make informed treatment decisions. We are excited about our collaboration with GenomeQuest because together, we are improving these critical steps to bring accurate, repeatable NGS diagnostics to the clinic.”
The second largest academic clinical sequencing laboratory in the country, Emory Genetics Laboratory is currently validating GQ-Dx to support the clinical deployment of gene panel tests for autism, X-linked intellectual disability, muscular dystrophy and congenital disorders of glycosylation. Emory now has the ability to combine publicly available genomic data with its own proprietary database of knowledge to perform sophisticated genomic analysis. The laboratory plans to expand its portfolio of GQ-Dx supported gene panel tests for oncology, hearing loss, cardiomyopathy and exome in the first half of the year.
GQ-Dx 2.0 is available today. For more information please visit GenomeQuest.
About GenomeQuest
GenomeQuest is a global provider and consistent pioneer in large-scale genomic software applications. Based on a whole/multi-genome engine and hosting platform, the company’s products now include GQ-IP for global research and management of intellectual property on genomic sequences, GQ-Dx for decision-support and research in molecular diagnostics, and GQ-Ag for agricultural research. GenomeQuest serves major pharmaceutical companies, global agriculture firms, biotech firms, IP legal teams, genome centers, academic research centers, diagnostic labs, and universities around the world. Learn more at www.genomequest.com .
SOURCE: GenomeQuest
