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.