Personal Genome Project shows whole genome sequencing could transform how Canadians manage their own health care

In the first-ever study from PGP-C, the researchers found 25 per cent of participants to date had genomic information indicating they could be at risk for future disease and even more were found to have genetic variants that would be relevant for family planning or newborn screening. All participants had genomic information associated with risks for adverse drug reactions or altered drug effectiveness, with 23 per cent of participants identified as being at risk for severe, potentially life-threatening adverse drug reactions. The research was published Feb. 3, 2018 online in CMAJ (Canadian Medical Association Journal).

PGP-C is a comprehensive public data resource that integrates participants’ whole genome sequencing data with their health information to advance scientific understanding of genetic and environmental contributions to human health and disease. All of the Project’s inaugural 56 participants have clinically relevant information in their genomes but interpretation of this information remains challenging, with many of the genetic findings being of uncertain significance. As more and more samples are analyzed, the number of findings with uncertain significance decreases, highlighting the potential of having an extensive database of whole genome sequencing data. 

“Though we’ve identified clinically relevant genomic information for all participants, each of their genomes has even 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 continuously learn more about the human genome which will allow us to eventually take full advantage of the wealth of information it contains. That’s why the goal of the Project is to sequence thousands of genomes each year.” 

PGP-C is the Canadian arm of the global Personal Genome Project, a collaborative academic research effort that started with Harvard Medical School’s Personal Genome Project in 2005. A priority of the Personal Genome Project is to share information collected from the localized projects with researchers around the world to drive new knowledge about human biology.  

Participants were required to undergo an extensive consent process as all data, including results from their whole genome sequencing, combined with personal and family history, is available online. Each participant had access to genetic counselling to appropriately contextualize the results of their genetic testing. 

“Genetic counsellors play an important role in communicating and interpreting these results appropriately,” said Professor Trevor Young, Dean of the Faculty of Medicine at the University of Toronto, which runs Ontario’s only academic training program for genetic counselling. “The demand for these specialized skills is only going to rise given the massive increase in the number of genome-wide tests now being used in hospitals.” 

The cost of whole genome sequencing has fallen dramatically since PGP-C began recruiting and analyzing samples in 2012 and further still from when the Project was conceptualized in 2007. Signs indicate the technology will continue to become more affordable and accessible, which the authors expect will transform whole genome sequencing into more of a mainstream practice for the general population. As a result, frontline health-care providers may become involved in interpreting and delivering resulting genomic information in the near future. 

The work was funded by the University of Toronto’s McLaughlin Centre, the Canada Foundation for Innovation, Genome Canada/Ontario Genomics, the Government of Ontario, the Canadian Institutes of Health Research (CIHR), Medcan Health Management Inc. and SickKids Foundation.