Good morning, and thank you for the opportunity to speak to you today about genetic testing and its role in enabling access to therapies for Canadians affected by rare disease.
I'm a professor at the University of Toronto's Department of Computer Science and the director of the Centre for Computational Medicine at the Hospital for Sick Children. My team and I work to develop computer software and algorithms to assist rare disease clinicians and patients, and we have been involved in many Canadian and international rare disease genomics efforts.
With me today is Ian Stedman. He's a rare disease patient and parent who went through a 32-year-long diagnostic odyssey to get an answer for him and for his family, and he will talk about the cost of being undiagnosed and the value that the diagnosis brought to him.
To begin, I would like to talk about the importance of genetic diagnosis for rare diseases. Our genome contains 20,000 genes, and 80% of rare diseases are caused by changes or mutations in one or a few of these. We now have technology that can decipher the whole genome, identify disease-causing mutations and differentiate between the greater than 7,000 diseases for as little as $1,000.
As you heard from Marc LePage, the President and CEO of Genome Canada, on October 16, countries around the world are embracing this technology. The U.K. government plans to decode the genomes of five million patients as part of a national initiative that builds upon the completed “100,000 Genomes” study. The United States just announced a $1.5-billion program through the NIH called “All of Us”, which will combine the genomes of one million Americans with data on their health, environment and lifestyle to identify optimal treatments.
These programs exist because precision medicine will lead to significant cost savings through early intervention and treatment. This is especially true for rare diseases, where patients undergo a significant diagnostic odyssey. Recent studies demonstrate that early diagnosis of rare disease patients through genome-wide testing leads to cost savings of as much as $8,000 per patient per year, in a health care system very similar to Canada's. The reason for these savings is that patients without a diagnosis do not save the health system money by going untreated. They cost the system money because they are the cause of unnecessary visits, investigations and interventions.
Ian can illustrate this with his story.