Whole Genome Sequencing Could Transform How Canadians Manage their Own Health Care

March 01, 2018

​Researchers from The Hospital for Sick Children (SickKids) and the University of Toronto behind the Personal Genome Project Canada (PGP-C) are predicting whole genome sequencing will likely become part of mainstream health care in the foreseeable future.  

In the first-ever study from PGP-C, researchers found 25 per cent of participants to date had genomic information putting them at risk for future disease. All participants had genomic information associated with risks for drug reactions or drug effectiveness, with 23 per cent being at risk for potentially life-threatening drug reactions. 

PGP-C integrates participants' genome sequencing data with their health information to understand genetic and environmental contributions to human health and disease. The 56 inaugural participants have relevant information in their genomes but understanding this information remains challenging.

"Though we've identified clinically relevant genomic information for all participants, each of their genomes has more information that we can't interpret yet," says Dr. Stephen Scherer, Senior Scientist and Director of The Centre for Applied Genomics (TCAG) at SickKids, and Director of the University of Toronto's McLaughlin Centre. "As we analyze more samples, we learn more about the human genome which will allow us to take full advantage of the wealth of information it contains." 

Participants underwent a consent process to do their whole genome sequencing because their personal and family history would be made available online. Each participant had access to genetic counselling to contextualize their results. 

"Genetic counsellors play an important role in communicating and interpreting results. The demand for these specialized skills is only going to rise given the increase in the number of genome-wide tests," said Professor Trevor Young, Dean of the Faculty of Medicine at the University of Toronto.

The cost of whole genome sequencing has fallen since PGP-C began recruiting and analyzing samples in 2012. Signs indicate the technology will continue to become more affordable and accessible, translating whole genome sequencing into a mainstream practice. As a result, frontline health-care providers may become increasingly involved in interpreting and delivering genomic information.

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