It’s time to transition to an era of genomic medicine

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.

Genomic medicine, where care is informed by the individual’s DNA sequence, is already a reality. We work at a leading children’s hospital and research institute where our mandate to provide the best care possible is achieved by pioneering new approaches to reach beyond the status quo. Our centre was an early adopter of genetic technologies now considered part of standard care. For us, these genetic tests are commonplace and on par with other routine tests like MRIs. The problem is that no one test is comprehensive and many of our patients with suspected genetic conditions remain undiagnosed.

Written but unread in our DNA are answers to life’s most compelling mysteries, from the universal to the intensely personal.

What is different about genome sequencing is its scope. Using genome sequencing technology, we could end the diagnostic odysseys for hundreds of thousands of Canadian families. The answers we find are meaningful, increasingly actionable and give special insights into our shared genetic code. In a recent study, we performed genome sequencing for a group of children and youth with medical complexity who remained undiagnosed even after extensive conventional genetic testing. The findings allowed us to better counsel the families, tailor care plans and contributed to the discovery of three never-before-seen genetic disorders.

At least one in 10 Canadians are already nodding, because they themselves or a loved one have a genetic condition. For everyone else, it’s time to dispel a common albeit comforting myth that we are all immune: All of us are at risk for a genetic disease or having a child with a genetic disease, irrespective of our family’s history. Genome sequencing helps us both diagnose problems faster when they arise and creates opportunities for forewarning and preventive medicine.

Our needs in the present and our hopes for the future require a coordinated national strategy for genomic medicine. We can look to other countries for guidance. England and Australia have embraced genomic medicine, with the former sequencing the genomes of millions within its National Health Service. Their experiences showcase the power and the promise of advanced genetic testing: more diagnoses, accelerated workups and results that influence clinical management.

However, our geography, diversity and decentralized, universal, publicly funded health-care system mean we need a uniquely Canadian approach.

Focusing on three immediate priorities will facilitate our transition.

First, we must advocate for equitable access within and across provinces to genome sequencing for those who can benefit most.

Second, these targeted efforts to use genome sequencing as a clinical diagnostic test need to be coupled with a pan-Canadian population-scale effort to study genetic determinants of health. Responsible, consented data sharing will allow us to better interpret genetic information for all. As with other public health initiatives, genome sequencing may benefit you and your family directly but also helps your fellow Canadians, including those most vulnerable and in need. 

Third, we need to increase the genetic literacy of the Canadian population, from policy-makers to health-care providers, and ensure that we are prepared to carefully interpret the deluge of data that is already on the horizon.

The current benefits and pace of discovery herald the future of genomic medicine. The more we read genomes, the more we understand. Cataloguing the remarkable variation across our DNA will lead to better, personalized health care. It’s time we make genome sequencing a standard-of-care clinical test to usher in the next era of health care and help us tackle the unknown.

The comments section is closed.

  • Mike Fraumeni says:

    An excellent article and very timely. The authors write “Using genome sequencing technology, we could end the diagnostic odysseys for hundreds of thousands of Canadian families.” This has far reaching implications as the mention and as well for example, this from the late Robin Williams’ wife:
    “The lack of a clear diagnosis also made it difficult to comprehend the multitude of distressing symptoms, including paranoia, delusions, and the unpredictable fluctuations of his cognitive skills throughout the day. “He thought he was going crazy,” Susan Williams said. “A diagnosis would have helped us cope.” – https://www.alzforum.org/news/conference-coverage/new-tool-kit-helps-physicians-recognize-and-manage-lewy-body-dementias

    Studies such as the Ontario Neurodegenerative Disease Research Initiative (ONDRI) study “HANDDS-ONT (Health in Aging, Neurodegenerative Diseases and Dementias in Ontario)” – https://ondri.ca/handds-inquiries/ – requires funding in order that blood samples from participants can be sequenced to complete the study in full. The implications of studies like these for patients and families is far reaching without question. Again as the article mentions, we are entering an era of personalized medicine but for this to achieve it’s full potential, research must be funded properly so that knowledge can be gained.

    For anyone interested, this article describing some of the genome activities of ONDRI may be useful:
    “The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration”
    – Sali M K Farhan, Allison A Dilliott, Mahdi Ghani, Christine Sato, Eric Liang, Ming Zhang, Adam D McIntyre, Henian Cao, Lemuel Racacho, John F Robinson, Michael J Strong, Mario Masellis, Peter St George-Hyslop, Dennis E Bulman, Ekaterina Rogaeva & Robert A Hegele on behalf of ONDRI Investigators

  • James Dickinson says:

    The whole idea and process of gene sequencing and medicine based on this is intellectually fascinating, and will undoubtedly help a few people whose illness is due to genetic causes. So some investment in this is clearly valuable. However, let us be equally clear that the vast majority of illness and injuries that affect members of our society, will not be affected by gene sequencing. Instead we as a society need to invest more in changing social conditions, behaviour change, and primary medical care, to prevent and manage the common diseases that affect far more people,


Gregory Costain


Gregory Costain is staff physician in the Division of Clinical and Metabolic Genetics, and scientist-track investigator in the Genetics & Genome Biology program, SickKids.

Ronald Cohn


Ronald Cohn is president and CEO, senior scientist, paediatrician and geneticist at SickKids.

Stephen Scherer


Stephen Scherer is chief of research and senior scientist in the Genetics & Genome Biology program, SickKids.

Christian Marshall


Christian Marshall is clinical lab director in the Division of Genome Diagnostics, scientist in the Genetics & Genome Biology program, SickKids.

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