The United States is going to analyze the genetic information of more than one million Americans. The United Kingdom has a 100,000 Genomes Project and Australia is following suit with its own plan to decode 100,000 genomes.
Private enterprise has skin in the game too: J. Craig Venter's Human Longevity Inc. will sequence one million genomes by 2020. There are even non-profit initiatives such as Harvard University's Personal Genome Project and at the University of Toronto that are collecting genomic data from volunteers.
Yet, as the world embraces precision medicine and funds ambitious cohort studies, Canada remains largely on the sidelines. It's a shame.
The purpose of these large-scale genomic studies is to tease out common drivers of disease and to develop better diagnostics and treatment.
"Precision medicine gives us one of the greatest opportunities for new medical breakthroughs we've ever seen," President Barack Obama said when he unveiled his country's plans in January 2015. "The Precision Medicine Initiative will lay the foundation for a new generation of lifesaving discoveries."
As Mr. Obama said, if you want innovation, you have to invest, not wait for others to do so. The spinoff of bold, countrywide projects is to bolster research and attract top scientists because, increasingly, the best researchers go where the information is.
It's a shame, too, that Canada is sitting on its hands because this country already has so many of the elements in place to leap-frog to the top tier of genomics research.
We have invested big in infrastructure. Just last month, for example, researchers at the University of Toronto and the Hospital for Sick Children unveiled state-of-the-art sequencers from Illumina Inc. they plan to use to decode 10,000 genomes a year. This approach is now affordable: When the first human genome was decoded in 2000, it cost $3-billion (U.S.); today a genome can be sequenced for $1,000.
Canada, because of its universal health system, centralized data collection agencies such as the Canadian Institute for Health Information (CIHI) and research agencies with expertise at linking databases such as the Institute for Clinical Evaluative Sciences (ICES), has better and more readily available records than most countries in the world.
What we are lacking – as in so many aspects of health care – is not the people, the infrastructure or the money, but vision. Instead of thinking big, Canada has a mishmash of unconnected small and mid-size genomics initiatives working in splendid isolation.
Stephen Scherer, director of the the Centre for Applied Genomics at the Hospital for Sick Children, and one of many scientists who have been quietly pushing for Canada to forge its own 100,000 Genome Project, likens it to the scientific version of building a national railway. "By tying many projects together with a common vision we could move medical science into the realm of big data," he says.
A large-scale project would actually not be that costly – in the area of $25-million to $50-million. That's because the decoding of genomes doesn't have to be done from scratch. That work is already being done (or half-done); the real benefit would come from co-ordinating and compiling data. For example, the Canadian Longitudinal Study on Aging has already enrolled 50,000 people, 30,000 of whom have provided biological samples.
Of course, there are those who are skeptical about precision medicine who note that since the human genome was decoded 15 years ago the benefits have been modest – the ability to identify rare disorders and a few drugs for rare cancers.
But modest progress to date is not a reason to do nothing. As Dr. Scherer notes, "in genomics, the answers are in the numbers."
The clues to preventing, diagnosing and treating disease will come from finding commonalities in genetic variations. That level of precision will require large numbers, or big data, if you will.
The reality too is that, in the end, health practitioners and health systems will be demanding these kinds of data. It won't be long before the heel-prick test that every child has at birth will be used to sequence their genome rather than test for only a couple of dozen genetic conditions.
Canada can get out front and help establish the rules in the brave new world of medical science with a few strategic investments, or it can sit idly by and play catch-up later. Ultimately, we know which is better for the health and well-being of Canadian science, and Canadians' health.