Utah-based Tute Genomics and UNIConnect will partner with Newborn Screening Ontario to uncover rare but treatable diseases in newborns
In the Canadian province of Ontario, next-generation gene sequencing will soon be part of newborn screening. This development is another confirmation for clinical laboratory managers and pathologists that genetic information from such diagnostic testing is contributing to improvements in clinical care.
The Ontario Ministry of Health and Long-Term Care is contracting with NSO to offer a next-generation sequencing testing panel and a multiple ligation-dependent probe amplification assay for the diagnostic confirmation of a variety of disorders.
The partnership is part of Ontario’s effort to boost its in-house genetic testing capabilities and reduce reliance on more costly medical laboratories located outside the province. According to an article in GenomeWeb, Ontario currently outsources roughly 85% of its genetic tests to partners in the United States.
“There’s now pressure and incentives for these groups to bring clinical sequencing in-house,” Josh Forsythe, Tute’s Vice President of Marketing, stated in the GenomeWeb article. “Bioinformatics is the critical piece to do that and that’s what people are missing.”
Partnership to Enable Timely Diagnosis and Treatment of Rare Diseases
“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,” Dennis Bulman, PhD, Senior Molecular Scientist at NSO and Children’s Hospital of Eastern Ontario Research Institute said in a Tute statement. “Our ability to offer ‘in-province’ testing allows for more timely diagnosis and treatment for these rare diseases.”
According to Tute Genomics’ statement, NSO’s first next-generation sequencing 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, congenital adrenal hyperplasia, and 20 genes responsible for 80-90% of severe combined immunodeficiency. Future development may also include a panel to sequence Cystic Fibrosis Transmembrane Conductance Regulator directly from blood spots.
“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,” said Reid Robison, MD, MBA, CEO of Tute Genomics, in the Tute statement.
Precision Medicine from Birth Onwards
Newborn Screening Ontario initially will use next-generation sequencing panels to confirm diagnostic results for the subset of newborns that test positive using existing biochemical screening methods. Another goal is to eventually screen all of the estimated 145,000 babies born annually in Ontario using next-generation sequencing.
“The long-term goal of our program is to be able to merge the power of next-generation sequencing technologies with that of mass spectrometry to provide a comprehensive throughput newborn screening facility,” Bulman explained.
Josh Forsythe, Tute’s Vice President of Marketing, believes next-generation sequencing of newborns will create a database of genetic information that can be valuable to families throughout their childrens’ lives, offering the possibility of precision medicine from birth onward.
“The earlier a child is diagnosed, the better it is,” Forsythe stated in an article published in GenomeWeb. “If we can start sequencing newborns … at birth, [then] whether there is a problem that manifests at birth or at 3-years old, the data is there. As soon as there is a problem, that data can be interrogated to find the answer that child needs.”This story shows how next-generation gene sequencing is starting to find a role in clinical care. Newborn screening is done in every state of the U.S. and in developed nations in order to identify that small number of babies who have a rare disease that responds to treatment with early intervention. Dark Daily has been following similar developments in the U.S. for some time. (See Dark Daily, Whole-Genome Sequencing Aided by Bioinformatics Analytical Software Offers Quick, Accurate Test for Diagnosing Diseases Caused by Single-Gene Mutations, November, 27, 2013.)
What will be of particular interest to pathologists and medical laboratory scientists is that Ontario’s project not only requires the capability to do the gene sequencing, but also a substantial information technology infrastructure to capture the data, store it, and analyze it.
—Andrea Downing Peck