The research areas in which Canada has the potential to excel are numerous, one being the world of genomics. The stem cell itself having been discovered in Canada, Marc LePage, president and CEO of Genome Canada, identifies great potential to attract more fundamental research into that domain in the future. He himself has massively contributed to establishing the genome program in Canada and has big plans for the future: “In less than five years we aim at having in every hospital in Canada—not just the large university hospitals—genomic diagnostics available for rare diseases.”

In less than five years we aim at having in every hospital in Canada—not just the large university hospitals—genomic diagnostics available for rare diseases

Marc LePage, Genome Canada

For a developed country with high healthcare standards such as Canada, it is to be expected that rare diseases would be well incorporated in the system. However, Canada stands out as the only country within the G7 to not possess a rare disease framework.  Jared Rhines of Akcea Therapeutics an ultra-rare disease company specialized in familial chylomicronemia syndrome (FCS), that has a founder’s effect in French Canadians, comments: “Canada and its authorities are not prepared for an orphan drug framework, which is unbelievable in a developed G7 country.” Especially, since “only 60 percent of medication that is available globally is available in Canada and I think it should be concerning to Canadians with rare diseases, their families and healthcare providers that it almost takes six years to bring drugs to Canada, if at all,” whether the patient number be at 60 to 100 patients as with ultra-rare diseases or higher. Thus, access to lifesaving drugs for those among the 35 million Canadians living with a rare disease is difficult, even more so when diagnostics are challenging.


Moreover, as Shire’s general manager Eric Tse contributes: “Rare diseases are individually quite rare, but collectively, there are around 7,000 rare diseases in total, so they are quite a prevalent issue. Around one in 20 Canadians suffer from a rare disease, which puts it into perspective.”


Nonetheless, Akcea Therapeutics has brought important R&D to Canada. Not only the prevalence of the disease was crucial for this decision, but Rhines further explains that: “Canadian science is known as being world-class across the globe and that was really the underpinning of our development program for Volanesorsen. The Phase 2 work was only done in Quebec and supported the initiation of the Phase 3 trial. This was a pivotal, multi-national, multi-center trial across the US, Europe and Canada and over 20 percent of the patients Canadian across six different sites.” “We had 19 clinical trials, across 25 centers in Canada, and over 100 Canadians enrolled, which was remarkable, given the rarity of our disease. I am thrilled with the investment we have made into R&D in Canada.”


Branded pharmaceuticals, especially those with high prices, are often seen as nothing more than a cost by payers, but Rhines states that “Despite the current environment, I am cautiously optimistic that there is an opportunity for change and that parties will be willing to listen because I believe the health of Canadians depends on cross-sectoral discussions about how to ensure better access to innovative drugs.”


LePage is excited to drive forward human genome programs, as he believes “This will entail much better patient outcomes by providing a meaningful test to establish the right diagnosis for the one million Canadians with a rare disease. In the process, we will also be driving forward our data sharing, so that the collected sequences may be available in each province. The rare disease program is thus the foundation on which we will build a broader precision health program for Canada. We have been dedicated to implementing precision health in Canada for some time and now we are excited to help usher it into the implementation phase,” he reasons.


“We have the chance to establish best practices that can be exported around the world, which is very motivating!” Rhines concludes.