That's a wonderful job, guys. That's a hard act to follow.
I'm a clinician scientist at CHEO. I work on rare diseases. In deference to the Dutch, I'm going to keep it pretty brief and open it up for more questions.
I would like to run the numbers. This is probably old news to the committee but I'll give you a numerical overview.
The number of rare disorders is 7,000, as Michael said. That number may well grow with time but that's our estimate right now. Roughly one million Canadians are affected. One in 12 is bandied about. We think that is an overestimate. It's closer to 2% to 3%. Nonetheless roughly one million Canadians are affected.
Over 50% are children. Under 50%—less than a half— have a diagnosis now. When I look at the in-patients on my ward at CHEO, I see that roughly one-third have rare diseases. These diseases are responsible for one-third of deaths in the first year of life, and one-third of children with rare diseases will die before they reach the age of five. That's to give you a sense of the impact of rare diseases.
The proportion of rare diseases for which there is no therapy is 94%. We do not have a therapy for most of these disorders.
Perhaps the most telling statistic is that when you look at the proportion of general years of life lost for rare diseases, it's around 4.6%. That's years of life lost in Canadian society. For infectious diseases, the number is around 1.4% or 1.6%. For diabetes, it's only 2.6%. It's really dramatic. I think the reason for this is that it takes life early on, so that carries a disproportionate impact.
As Michael said, we live in revolutionary times right now with economic DNA sequencing. The first responders to this are genomes. Everybody in this room will be in our electronic medical health record within a decade—no question. It's going to impact how we're perceived at risk of disease, prevention and therapeutic options. Whether you call it genomic, precision or personalized medicine, it's a revolution.
The children with rare diseases are really the first responders to this revolution. I would say parenthetically that getting this right is not just good for children with rare diseases; it's good for all of us.
We have in the guise of Michael, whose Matchmaker Exchange platform has been adopted by Johns Hopkins in Baltimore, Cambridge University and the National Institutes of Health in Washington, an absolute global leader in rare disease diagnosis. He's too modest to say so.
With Kym Boycott, my colleague leading Care4Rare at the children's hospital, we have a pan-Canadian consortium where we've diagnosed rare diseases at an unprecedented rate—almost 200 new rare disease genes identified. There's no other developed country that has really done a national, full-on assault like that. I'm not sure if it's the submersible Canadian ego, our desire to work in committees, but we really are number one as far as going coast to coast to coast and addressing this problem.
As we heard so eloquently from Ian, a diagnosis really is a form of therapy—absolutely critical. When Mark LePage talked to you about their Genome Canada initiative to do 30,000 rare disease genomes, that's a tremendous project with huge potential. It's a bit like Dickens: the best of times and the worst of times. It's incredibly exciting what's going on as far as diagnosis is concerned, but the lack of therapies and also the cost of therapies must be mentioned.
My laboratory works on repurposing drugs. We take clinically approved drugs and look at indications for rare diseases. In working over the last five years, we've identified five potential therapies for diseases involving epilepsy, aortic aneurysms, nerve degeneration and muscular dystrophy. These drugs cost as low as a dollar a day, sometimes less than that.
Dr. Vicky Siu, a colleague in London, is giving histidine to the old Amish individuals with a seizure disorder. Clara van Karnebeek, at UBC, has started a web page to show doctors how to use dietary modulation for rare diseases. There are other ways of addressing rare diseases than new drugs.
But obviously new drugs will be needed and therein lies the rub. What can Canada collectively do about the problem of the cost of these drugs?
Mike laid out very well the economic argument for looking at them perhaps differently from other drugs.
I would just say a few things. I think we need to show a united front. Right now, Canada is alone in the OECD and the developed world in having a balkanized provincial approach. This is shown in how, after Switzerland and the U.S., we pay the third most in the world for these drugs. We have the pCPA, but we really need a stronger policy lever in this regard. We need to start prescribing biosimilars and generics more than we do now. These are under-prescribed.
The U.S. introduced legislation about 15 years ago to accelerate biosimilars. These are drugs that are the biologicals, the antibodies, etc., that aren't exactly the FDA-approved drugs, but are the generic form. This legislation in the States has made a difference.
We need to look at things such as managed access programs, where the companies generate data as we go along with the therapy so we can assess who should get their drugs, based on hard evidence, and who should actually stop the medication. It is one of the most difficult things to face—at what time do you actually stop a medication when it's not being effective?
For my part, I think we may need to rethink how we go after rare diseases. Right now, it's academics like me working in labs collaborating with big pharma and biotech companies, but I think we need the almost Thomas Edison or Henry Ford plant approach to rare diseases in a generalized fashion, where you have open access, much like what Aled Edwards talked about. We need a transparent factory approach where you're making gene vectors, which go to specific tissues that you can put different genes into, novel ways of isolating proteins in an industrial fashion, a really systematic approach to repurposing drugs such as what we did, the idea of a universal donor cell where you can actually generate cells that do not induce immune responses, such as those that Jonathan Pitre, the butterfly boy, succumbed to just last year.
There are a number of thoughtful systematic approaches one can use to tackle rare disease therapy generation.