With a biobank containing biospecimens from over 150,000 participants from across Canada, CanPath is a valuable platform for genomics research in Canada and globally. To date, CanPath has captured genotyping array data from approximately 45,000 individuals with whole genome sequencing underway for a further 43,300 individuals through new initiatives at the Ontario Health Study and CARTaGENE.

Ontario Health Study Whole Genome Sequencing

Beginning in April, 2021, whole genome sequencing of more than 41,000 participants in the Ontario Health Study (OHS) will be carried out by the Canadian Data Integration Centre using its genome technology platform, located at the Ontario Institute for Cancer Research (OICR). Sequencing data could be available to approved researchers as early as Fall 2021. The initial stages of this work will be supported by the OHS and Genome Canada through Genome Canada’s genome technology platform at the OICR, the Canadian Data Integration Centre.

“This whole genome sequencing work is going to support many broad health research applications where scientists are interested in identifying genetic factors that might be associated with the development of disease, healthy aging or enhancing our understanding of how the genome interacts with the environment in terms of development of disease,” said Dr. Philip Awadalla, Executive Scientific Director of the OHS and National Scientific Director of CanPath. “Having such data sets available will help a broad range of scientists to develop clinical support tools, as genomes are at the critical intersection of public health and personalized medicine.”

CARTaGENE GenoRef-Q Initiative

Quebec’s CARTaGENE has genotyped its entire cohort, thanks to funding provided by Génome Québec. Genotyping data from the 30,000 participants who provided biological samples will be available to researchers this summer.

In December, Génome Québec, in partnership with Genome Canada, awarded CARTaGENE Scientific Directors Dr. Guillaume Lettre and Dr. Simon Gravel funding of more than $3 million for the GenoRef-Q Initiative. This initiative will sequence the genome of 2,300 participants from previously genotyped individuals in the CARTaGENE cohort.

“Our end goal is to create a catalogue of genetic variants found in the population of Québec and ultimately provide clinical geneticists and other clinicians with a powerful tool to interpret the results of genetic tests and to pinpoint the cause of various genetic diseases,” says Dr. Lettre.

Sequencing and COVID-19

Dr. Awadalla anticipates that in the near future, sequencing will be conducted on samples from CanPath participants who have tested positive for COVID-19, as self-identified through the 2020 CanPath COVID-19 questionnaire and through dried blood spot samples collected from participants via the 2021 COVID-19 Antibody Study. Funding for this work was awarded by the Canadian Institutes of Health Research and the COVID-19 Immunity Task Force for CanPath’s SUPPORT-Canada COVID-19 surveillance initiative.