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Canada must be ready to transition into new era of genomic medicine
2 minute read

Canada must be ready to transition into new era of genomic medicine


SickKids clinicians and scientists call for a national, coordinated strategy on genomic medicine to support adoption of genome sequencing as a standard-of-care diagnostic test.

Drs. Gregory Costain, Staff Physician in the Division of Clinical and Metabolic Genetics and Scientist-Track Investigator in Genetics & Genome Biology, Ronald Cohn, President and CEO, Stephen Scherer, Chief of Research, and Christian Marshall, Clinical Lab Director in the Division of Genome Diagnostics and Scientist in Genetics & Genome Biology, share an op-ed in on the need to transition Canada into a new era of genomic medicine. Their article, "Genome sequencing as a diagnostic test", was published in CMAJ on October 25, 2021.

Our country’s response to the latest global pandemic was made possible by investments in health-care systems, research and development dating back decades. For all the unknowns and what-ifs in medicine, it’s become clear that the next era of health care will be defined by how much we invest now in understanding our genomes – the instruction manuals for how our bodies develop and function.

Written but unread in our DNA are answers to life’s most compelling mysteries, from the universal to the intensely personal. A coordinated national strategy for genomic medicine will help us live better in the present and prepare for the future.

The catalyst for change is our newfound ability to efficiently read the entire human genome. Genome sequencing as a single test can diagnose nearly all the thousands of known genetic diseases. This is revolutionizing care delivery for children and youth with some of the most challenging and complex conditions.

Genome sequencing is the first test that allows us to peer into the “dark matter” of our DNA, capturing the nearly 98 per cent that has been inaccessible and ignored until now. Mapping these areas will give us new insights into the causes of, and potential strategies to treat, common health issues. This is relevant to nearly all disease, from cancer to serious mental illness, from diabetes to dementia. Information in the genome can also help us better anticipate our bodies’ unique and sometimes idiosyncratic responses to medications, viruses and other exposures.

Read the full op-ed on the need for genome sequencing as a standard-of-care diagnostic tool in

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