Ian is a great example of why genetic testing is so important and why we need to enable access to genetic testing.
Since receiving treatment, Ian has become one of Canada's scholars in the area of parliamentary ethics law and has published extensively on the topic. He also holds a fellowship on artificial intelligence, ethics and law and is researching how artificial intelligence solutions can be implemented and regulated in our society. I would submit that the cost of his testing and treatment pales in comparison to his contributions to Canadian society. He and countless patients like him are why genetic testing is so important, and why it's important to help eliminate barriers to access to treatment.
Genetic diagnosis can open the path towards therapy, as it did for Ian; however, the diagnosis must be timely, as one can miss the optimal treatment window. Ian, for example, had a one-third chance of dying from amyloidosis by the time he was 35 if he did not receive treatment.
In many other diseases, the window for treatment is even smaller. As a result, many hospitals in the U.S. are now experimenting with rapid genomic testing, with a result within 48 hours for patients in neonatal intensive care units. This also has been shown to actually reduce overall costs because of a reduction in the myriad of tests that would otherwise follow.
I want to now turn to the issue of the costs of these tests and drugs. While the sticker shock of the price of genetic testing and the many rare disease therapies is understandable, it must be compared to the costs on the health system for patients who are not diagnosed and who do not receive proper treatment.
Dr. MacKenzie will speak more about the costs of treatment, but these costs do not grow linearly with the number of patients. Because so much of the cost of a drug is sunk research costs, the more patients identified brings down the per-patient costs, while the benefits multiply proportionately.
The key to this is identifying and aggregating information for all rare disease patients. Canada is a small country in terms of population, and people with a rare disease are spread all across it. Our efforts on precision medicine in rare diseases, including early genetic testing, have to be national in scope.
In summary, I would like to make three recommendations to the committee.
First, when considering the costs of treatments and interventions, we always think about the aggregate costs and also the aggregate benefits at the economic, societal and personal levels.
Next, genetic testing for people with rare and/or undiagnosed diseases needs to be given a priority in any strategy that is aimed at removing barriers to access to treatment. This testing has been proven to reduce overall costs and can open the door to therapies, as it did for Ian.
Finally, because so few people have any individual rare disease and higher numbers significantly reduce costs, a national strategy to address access to rare disease drugs in particular and precision medicine in rare diseases more broadly needs to be national in scope.
Thank you. We'll be happy to take your questions.