Vancouver, BC – Cutting-edge health research projects at Genome BC are receiving a total of $34 million in government funding, which will support new and ongoing projects. Current research includes cancer projects in hereditary and childhood cancer, pharmacogenomics research into adverse drug interactions, infectious disease projects in areas such HIV, tuberculosis, Hepatitis C and Avian flu, and rare diseases.
A key project being supported by the province is RAPIDOMICS, which uses genome sequencing to identify genetic disorders in newborns at BC Women’s Hospital.
Currently, genetic disorders such as neurological problems, acute metabolic collapse, and malformations are a leading cause of infant mortality and make up a large percentage of the patients in B.C. neonatal intensive care units (NICU). The genome sequencing under RAPIDOMICS could significantly speed up the time to get an accurate and rapid diagnosis for patients with these types of disorders.
“Rapid exome sequencing in the NICU could replace hundreds of different tests that are currently in use, and greatly enhance support for families at this very difficult time,” said Dr. Alan Winter, president & CEO of Genome BC. “This project is an example of genomics enabling the precision and timeliness of patient diagnosis and management as well as reducing costs for the health care system.”
The $400,000 RAPIDOMICS project aims to introduce the use of rapid exome sequencing in the NICU, a technique for sequencing the protein-coding genes in a genome (known as the exome). The pilot will include exome sequencing of 25 trios (baby plus both parents). Initial results will be provided from the partner laboratory at the University of B.C. within five to seven days.
A list of human health projects currently funded by Genome BC is available here.