Genomic software firm GenomeQuest awarded six diagnostics laboratories grants worth a combined total of over $120,000 in software and service to facilitate their move from multiple Sanger-based gene assays to consolidated next-generation sequencing-based tests.
Under terms of the deals, GenomeQuest will provide the software, annotation data, and infrastructure for processing and storing NGS data, producing reports, and carrying follow-up research on individual and combined results. The organization says the resources will facilitate faster and more cost-effective diagnostics for rare genetic disorders, autism, cystic fibrosis, congenital heart disease, muscular dystrophy, and bacterial pathogens.
“The application of NGS to interrogate many genes simultaneously provides a major advance in clinical diagnostic testing that will benefit patients from a wide range of clinical services,” comments Edward I Ginns, M.D., director of the Molecular Diagnostics Laboratory at UMass Memorial Medical Center, one of the grant recipients. “Working with GenomeQuest on software for analysis of the massive amounts of data generated by NGS and on building an interface with our clinical laboratory information systems will further enhance the accuracy and timeliness of reporting results to providers,” adds Marzena Galdzicka, Ph.D., associate director.
The six grant recipients include:
- Cincinnati Children’s Hospital Medical Center (Cincinnati, Ohio) will use the grant to apply NGS diagnostics to diagnosing 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, New Jersey) will initially use the grant for cystic fibrosis gene testing. Future tests may focus on NGS testing for metabolic diseases.
- Nationwide Children’s Hospital (Columbus, Ohio) is conducting tests for congenital muscular dystrophies and aims to validate NGS testing for Noonan syndrome and related disorders, the birth brain defect holoprosencephaly, and infertility.
- The Molecular Diagnostics Laboratory at the University of Massachusetts Medical School/UMass Memorial Medical Center (Worcester, Massachusetts) will use NGS for genetic testing of cystic fibrosis, Ashkenazi Jewish diseases, heart disease, lysosomal storage disorders, and dwarfism, as well as for the identification of bacterial pathogens.
- The Department of Laboratory Medicine and Pathology of the University of Minnesota Medical School (Minneapolis, Minnesota) will apply NGS to eight areas of interest: 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, Nebraska) plans to focus its testing on developmental disability/autism, connective tissue and cardiomyopathy, bone diseases, neurology, and amyotrophic lateral sclerosis.