New project shines spotlight on rare diseases

It’s fitting that this year’s Rare Disease Day falls on a day that only comes around every four years. This leap day, Feb. 29, UBC researchers will launch a project to raise awareness about rare diseases and the issues facing patients and policy makers here in Canada.

The project,, is a collaboration between UBC’s faculty of pharmaceutical sciences and graduate school of journalism. It examines the complex coverage of expensive drugs for rare diseases in the Canadian healthcare system. A rare disease is defined as a condition that affects fewer than one in 2,000 people.

In this Q&A, journalism’s Peter Klein and pharmaceutical science’s Larry Lynd explain the biggest issues facing rare diseases in Canada.

What is the number one issue facing patients and families living with a rare disease?

LL: The primary issue facing these patients is access to treatment. There are no treatments for many of the 7,000 known rare diseases. However, new technology means that researchers are more readily able to identify the specific cause of a rare disorder. This can lead to the development of new treatments, but in many cases, there are no effective treatments.

When treatments do exist, the cost of treatment is often not affordable for anyone. Since most treatments require ongoing use, this cost is incurred on an ongoing basis. The only option for many patients to get treatment is for a public or private insurer to cover the costs, which is often difficult. 

What discussion is happening around funding for rare diseases in Canada?

PK: One of the challenges in covering this topic is that, once the concerns of the patients come into the picture, the emotional aspects of these stories tend to overshadow the bigger policy issues. It’s completely understandable – here are desperate patients, many of them children, many of them dying, and they want and need medicines, some of which are out of reach because of cost.

Some of these drugs, often called orphan drugs, literally cost up to $1 million per year per patient, which is challenging for cash-strapped provincial health systems. It’s unclear how the drug companies come up with their price tags especially since, in many cases, the research was paid for by government grants. Some companies pay patients to pressure provinces to cover the full cost of these medications.

Canada pays more for drugs than most developed countries, and that’s partly because of a decentralized system. There’s talk of national drug coverage, such as Pharmacare, which could allow for better price negotiation. 

Where do you think Canada is headed?

LL: The Canadian Orphan Drug Regulatory Framework has been in draft form since 2012. While the goal is to establish a comprehensive framework that will provide access to orphan drugs, the current framework is limited to addressing issues of market authorization (whether a drug is available on the market). The bigger question around access is whether or not an insurer will cover the cost of a drug. In addition to a regulatory framework, Canada needs a reimbursement framework.

We recently completed a study that found that Canadians feel that the most important things to consider when deciding to provide coverage for any drug therapy is whether it improves quality and length of life, is safe, severity of the disease, and if it improves one’s ability to work. We found that the rarity of the disease was the least important consideration.

How did come about and what is the goal of the project?

PK: An important part of the Canadian Institutes for Health Research’s mandate is “knowledge translation” – getting academic research out into the public and giving it broad reach.

We hired several journalism masters’ students to work with the academics and find stories that illustrate the complexities of funding expensive medicines for rare diseases in Canada.

Our goal with this website,, is ambitious – we want to reach families dealing with rare diseases, experts who work on the policy side of pharmaceutical coverage for rare diseases, as well as folks in the general public who may never have heard about these issues.

For videos, interviews and information about medical coverage for the treatment of rare diseases visit: This project was produced by a team of current and former journalism masters’ students, led by Alberto Mendoza Galina, and was funded by the Canadian Institutes for Health Research.