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CHU de Quebec Lands $10M to Test DNA, Serum-based Combo NIPT

NEW YORK (GenomeWeb News) – The Centre Hospitalier Universitaire de Quebec (CHUQ) has received C$10.5 million (US$10.1 million) in new funding from several Canadian government-affiliated groups to study the use of DNA sequencing coupled with a PerkinElmer serum test as a non-invasive technique for detecting birth defects, Genome Quebec said yesterday.

CHUQ, a network of three teaching hospitals affiliated with the University of Laval medical school and several specialized institutions in Quebec City, plans to use the funding to recruit 5,600 pregnant women to study the potential of using sequencing by itself or in a contingent model with first-trimester serum markers to detect defects.

PerkinElmer will provide its 1T-Quad screening test to support the project, in which investigators will identify women as having increased risk of fetal aneuploidy and then sequence and analyze cell-free circulating fetal DNA to estimate the risk of Down syndrome or other trisomy.

Funding for the project was provided by Genome Quebec, Genome Canada, Genome Alberta, and the Canadian Institutes of Health Research.

Each year in Canada around 450,000 pregnant women participate in population-based prenatal screening, and up to 10,000 undergo invasive and risky amniocentesis procedures, Genome Quebec said. The goal of this project will be to use the 1T-Quad screen followed by DNA sequencing of those deemed at risk of defects to increase the detection rate of Down syndrome while reducing the number of amniocentesis procedures.

"Recent data suggests that using the 1T-Quad screen to contingently select 10-20 percent of women at highest risk for non-invasive fetal DNA testing provides a novel way to integrate genomic testing into clinical usage that is both cost-effective and associated with excellent performance," Jo-Ann Johnson, a principal investigator on the project from University of Calgary, said in a statement.

Francois Rousseau, the project leader from the University of Laval, said the testing method
"combines both biochemical blood tests and genomic-based non-invasive assays with a short turnaround time, which is key in the context of an ongoing pregnancy."

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