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 |