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GenomeQuest Inc., a Westborough developer of sequence data management software for genome-based research, is supporting the use of next generation sequencing (NGS) based tests by giving about $120,000 in software and service grants to six U.S. laboratories.
The grants are expected to enable labs to transition from Sanger-based gene tests to NGS tests for quicker diagnoses of autism, cystic fibrosis, congenital heart disease, muscular dystrophy, rare genetic disorders and harmful bacterial pathogens. With the GenomeQuest NGS tests, the labs may receive the full bioinformatics package.
The six laboratories receiving grants include:
The Molecular Diagnostics Laboratory, University of Massachusetts Medical School/UMass Memorial Medical Center (Worcester) – genetic testing of cystic fibrosis, Ashkenazi Jewish diseases, heart disease, lysosomal storage disorders and dwarfism
Cincinnati Children’s Hospital Medical Center (Cincinnati, Ohio) – diagnosis of congenital heart disease, adult and pediatric cardiomyopathy, and cardiovascular disorders with genetic syndromes
The Institute of Genomic Medicine at the University of Medicine & Dentistry of New Jersey (Newark, N.J.) – cystic fibrosis gene testing, and potentially NGS testing for metabolic diseases
Nationwide Children’s Hospital (Columbus, Ohio) – testing for congenital muscular dystrophies, Noonan syndrome and related disorders, holoprosencephaly, a birth defect of the brain, and infertility
The Department of Laboratory Medicine and Pathology of the University of Minnesota Medical School (Minneapolis, Minn.) – pediatric bone marrow transplantation, congenital eye disorders, familial cancer syndromes, cardiology, congenital hearing loss, neurogenetics/neuromuscular disorders, genetic and metabolic pediatric disorders and intersex disorders
The University of Nebraska Medical Center (Omaha, Neb.) – testing on developmental disability/autism, connective tissue and cardiomyopathy, bone diseases, neurology and amyotrophic lateral sclerosis
GenomeQuest, which changed its name from GeneIT in 2007, specializes in whole genome, exome and microbiome analysis. In July, the company partnered with Cambridge-based Pathogenica to research and develop treatments for infectious diseases. In June, GenomeQuest announced that it had created a new role of health-care innovation officer and named Gerry Higgins to the position.
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