OTTAWA, Ontario, PROVO and SANDY, Utah, March 22, 2016 /PRNewswire/ -- Newborn Screening Ontario (NSO), which operates the highest sample volume laboratory in Canada for molecular testing, and Tute Genomics and UNIConnect, leaders in clinical sequencing informatics and molecular laboratory process management technology respectively, today announced the launch of a project to establish the informatics infrastructure for NSO's new next-generation sequencing (NGS) testing panel.
NSO has been contracted by the Ontario Ministry of Health and Long Term Care to offer an NGS panel and a multiple ligation-dependent probe amplification assay for the diagnostic confirmation of a variety of disorders. The move is the latest in a series of provincial repatriation efforts aimed at increasing genetic testing capacity and lowering costs for tests currently being performed largely out of country.
Dr. Dennis Bulman, senior molecular scientist at NSO, is leading the development of these new tests. "This partnership will expand our ability to deliver high quality results and will expand access to the latest genetic testing technology for children and adults within the province of Ontario. Our ability to offer 'in-province' testing allows for more timely diagnosis and treatment for these rare diseases."
New NGS Panels to Confirm Diagnoses of Rare but Treatable Conditions
NSO's first NGS panel covers 412 nuclear encoded genes associated with various forms of mitochondrial disease. A second panel covers 51 genes responsible for 22 primary and 16 secondary inborn errors of metabolism (IEM), congenital adrenal hyperplasia (CAH) and 20 genes responsible for 80-90% of severe combined immunodeficiency (SCID). Future development may also include a panel to sequence CFTR directly from blood spots.
The initial aim of NGS panels in the NSO laboratory is to prove clinical utility by offering confirmatory diagnostic testing for the subset of newborns that screen positive using traditional biochemical testing. Once the clinical utility of the NGS panels is confirmed, NSO hopes to expand diagnostic testing to all newborns who screen positive, and in the future may explore the possibility of NGS as a screening test for all ~145,000 babies born annually in Ontario.
"The long-term goal of our program is to be able to merge the power of NGS technologies with that of mass spectrometry to provide a comprehensive high throughput newborn screening facility," says Dr. Bulman.
Tute Genomic Commissioned to Deliver Scalable Informatics Solution
In order to deliver these services at scale, Tute Genomics will deploy its cloud-based informatics and genome interpretation platform in conjunction with partner UNIConnect's Precision Molecular Diagnostics (pMDx) laboratory information management system.
The combined solution will be used by NSO to manage bioinformatics "pipelines" in support of all NGS data generated, enabling the organization to efficiently get from raw sequencing data to accurate and timely identification of clinically actionable variants and report generation. Specifically, a number of key analytical steps will be supported, including quality assessment, sequence read alignment, variant identification, variant annotation and visualization, as well as data management and storage of multiple file types produced by next generation sequencers.
"At Tute, our compassion runs deep for our most vulnerable," affirmed Dr. Reid Robison, CEO of Tute Genomics. "We continue to witness firsthand how children suffering from genetic illness struggle to get the answers they need. We are excited to support Newborn Screening Ontario with the genomic medicine infrastructure to improve the lives of patients in Ontario."
Additional terms and conditions of the agreement were not disclosed.
Newborn Screening Ontario (NSO) is located at the Children's Hospital of Eastern Ontario (CHEO) and operates the screening program for the province of Ontario, in addition to related diagnostic and monitoring testing for rare disease. NSO has tested over one million newborns for serious but treatable rare diseases. Since NSO started at CHEO in 2006, over 1250 newborn babies with these diseases have been diagnosed through newborn screening. NSO is the most comprehensive newborn screening program in Canada, and is one of the largest and most modern programs in the world. www.newbornscreening.on.ca
CHEO is a pediatric health and research center providing outstanding family-centered patient care, pioneering breakthrough research, and training the health care professionals of tomorrow. www.cheo.on.ca
About Tute Genomics
At Tute Genomics, we envision a world where every child and every patient who requires a genetic diagnosis receives one, in time for it to make a difference. From faster, more accurate laboratory results to better clinical decision making, we work collaboratively with our industry leading hospital and diagnostic clients to implement the most integrative and cost-effective infrastructure of cloud-computing, sequencing informatics, genome interpretation and clinical workflow management technology. The results are scalable genomic medicine programs that dramatically improve the efficiency in which patients are diagnosed and cared for. To learn more please visit www.tutegenomics.com and follow us on twitter @TuteGenomics.
UNIConnect supports the science and business of personalized medicine by delivering laboratory process management solutions for molecular laboratories and their organizations. The company's technology adapts to rapid change, whether through scientific, regulatory or reimbursement dynamics, and the requirements of deep lab processes for the precise tracking and process detail required for molecular diagnostics, proteomics, clinical trials, etc. From the single lab to global network/enterprise, www.uniconnnect.com delivers critical capabilities that enable laboratories to achieve key objectives. www.uniconnect.com
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SOURCE Tute Genomics