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

Principal Investigator: Régen Drouin
Theme : Health
Competition : Genome Canada competition - Genomic Applications Partnership Program (GAPP)
Status : In progress
Start : Oct. 1, 2018
End: Sept. 30, 2020
Budget : $5,090,181.00

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 well-being.


Fulgent Genetics, which has a Canadian presence in Québec City, is working with Dr. Régen Drouin from Université Laval 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.


Lead Genome Centre: Génome Québec


Co-project leader: 

Harry Gao Fulgent Genetics