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Development of Comprehensive Cytogenomics and Molecular Genetics Testing Using an Exome and Low-Pass Whole Genome Sequencing Combined Approach

Genomic Applications Partnership Program
Genome Centre(s):
Génome Québec
Project Leader(s):
Régen Drouin (Laval University)
Receptor Leader(s):
Harry Gao (Fulgent Genetics)
Project Description: 

Copy number variants (CNVs – repetitive regions within the genome that vary from individual to individual) are implicated in a range of diseases and disabilities in humans, including cancer, intellectual disabilities and congenital abnormalities. Current methods for the detection of CNVs are costly and time-consuming, with limited accuracy and clinical utility, reducing the likelihood of appropriate treatment and placing an unnecessary burden on the healthcare system and on patients’ health and wellbeing.

Fulgent Genetics, which has a Canadian presence in Quebec City, is working with Laval University’s Dr. Régen Drouin to develop a more efficient and cost-effective test for CNVs. Their technology, NOVACNV+, will replace three existing cytogenetic testing methods with a next generation sequencing-based technology. The result will be improved testing resolution, accuracy, cost-effectiveness and further integration into genomic medicine.

The research team estimates that 50,000 NOVACNV+ tests could replace approximately 100,000 tests required each year with the current methods, saving the Canadian healthcare system at least $12.5 million per year. The development, clinical validation and implementation of this test will provide an attractive, long-term return on investment for Canada’s economy and for the health of Canadians. The establishment of a clinical and commercial genomic diagnostic industry in Canada will also help put the country at the forefront of personalized genomic medicine.