shaping the future of rare disease care in canada: new report outlines key considerations for fund allocation
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ashley hickey lives with cvid, a rare disease, and knows all too well how important to rare disease strategy in the country is for herself and people like her.
ashley hickey
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roughly 1 in every 12 canadians is living with a rare disease. while those numbers are high, each is living with an “individually” uncommon disorder that affects their overall quality of life, as well as their ability to participate in day-to-day activities, such as work, social obligations, and the like.
these people contend with several unmet needs, such as a lack of viable medications, equitable access to medications, and access to care centres or medical professionals who are well-versed in and understand these rare diseases. a new report created by takeda pharmaceutical company — enhancing diagnosis, access, care, and treatment: recommendations for health system readiness for rare diseases in canada — highlights six key areas of unmet needs, offering an outline of how policymakers can go about making rare disease drug access and care better in the country when nearly 200 new rare disease drugs are expected to launch in canada over the next decade.
jefferson tea, the vice president of medical and scientific affairs with takeda, had a hand in creating the report alongside others in the field and hopes that it will help drive an influx of new rare disease drugs into the country for those that need them most, as well as create new opportunities for those drugs to get into the hands of patients while improving overall care for rare diseases.
“there’s a lot of challenges with regards to rare disease, and what we looked at is the number of new therapeutics that are going to come up in the next ten years. in a nutshell, over 1000 drugs are currently in clinical development,” he said. “so, basically, what the report says is we wanted the policymakers to be ready for these new therapeutics that are going to come into the marketplace.”
in march of 2023, the government of canada announced that it would invest “up to” $1.5 billion into the rare disease space, a welcomed support of the national strategy for drugs for rare diseases. the announcement came and went without much movement of funds, and recently, those working in the rare disease space received news that the funding train is finally leaving the station.
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the funding will go to introducing new drugs into the mix for canadians, making drugs more accessible, and helping improve how people with rare diseases access care, afford their medication and seek out knowledgeable healthcare providers.
durhane wong-rieger, president and ceo of the canadian organization for rare disorders (cord), has seen firsthand how little attention those living with rare diseases have received and welcomes the new funding because it means that progress, however slow going, is on the horizon.
“we have been working over the past number of years, probably almost two decades now, trying to get some form of rare disease strategy. we have finally come to a point where there is, in fact, a canadian rare disease drug strategy, and it’s being implemented,” she said. “so, it’s definitely a much more optimistic tone and, i think, a more accessible space than it has been.”
the funding geared toward helping people access affordable drugs and adequate care has come not a minute too soon. ashley hickey, a mother of two and successful tech software business owner living with a rare disease known as common variable immunodeficiency (cvid), knows firsthand just how important it is for people to be able to access affordable medications.
between herself and her husband, close to 80 per cent of their gross income is spent on keeping themselves alive and well. without adequate programs geared toward bringing in new medications or making the ones that already exist affordable for people like ashley, her life is a constant battle to make enough money to survive.
“essentially, i have to work a second job just to pay for the medications that are required to stay alive because, quite frankly, i can’t function,” she said, later continuing, “that’s the reality of rare disease, and they keep making these amazing medications, but who can pay for these things?”
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the report recommendations
the six key areas of focus required to improve the state of rare disease in the country to help people living with rare diseases, such as ashley, are as follows:
enabling physicians to become well-versed in rare diseases, resources, and new treatments
rare diseases are often so uncommon that physicians are unaware that they exist, or if they are, have rarely had the opportunity to interact with a patient with one of these diseases. because of this, the knowledge gap in understanding these conditions leads to diagnostic issues that can prolong the wait for treatment, leaving patients in the lurch while their condition worsens.
“one of the key issues of these patients is that it’s very hard to diagnose them,” said tea. “because it’s rare, typically these patients, before they are appropriately diagnosed with their disease, they will often go through seven or eight specialists before being diagnosed, and the average number of years to get the diagnosis correct is around seven years.”
taking that long to reach a proper diagnosis becomes costly for the patient in terms of overall health, quality of life, time, and finances, and it costs the canadian healthcare system more than it would if more doctors were able to diagnose these conditions faster.
in ashley’s case, her illness kept her sick all the time, but it wasn’t until she was in her late teens that she got a proper diagnosis because no one in her “generation had ever heard of these things.”
“i missed out on everything,” she said. “i was just always sick.”
for people like ashley, early diagnosis could have changed the course of their lives had they been given the chance to find treatment earlier.
implementing high-level genetic screening and diagnostic measures to improve and guide treatment decisions
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current genetic testing guidelines are lacking when it comes to rare diseases. since “genetic testing plays a pivotal role in the diagnosis of rare diseases with precision,” more timely and available screening measures would also improve things.
“it’s very fragmented in terms of how patients have access to these genetic tests,” said tea. “we want policymakers to make sure that there is equitable access to these genetic testing and, more importantly, investment in terms of having these patients have access to the latest technologies with regards to detecting what gene is mutated.”
tea is speaking on newborn screening, a highly effective technique for diagnosing rare diseases earlier in life.
improving access to care
access to care for people living with rare diseases leaves a lot to be desired because they are not treated the same way as other health issues.
for example, when a person is diagnosed with cancer, there are specialized centres they can go to that help them through the entire journey, from diagnosis to treatment and everything in between. however, the same care options are unavailable for rare diseases in the country.
“you don’t really have rare disease centres, and if you do, they may not be specialized,” said wong-rieger.
the hope is that some of the funding allocated to the rare disease strategy will help create better care centres that are more well-versed in the rare disease space and upcoming treatments — even if they can’t make one for every single one of the over 7,000 specific types of rare diseases canadians are affected by.
ashley, for example, is only one of only roughly 642 people in the country living with cvid. while it may not be financially possible to create a centre dedicated directly to cvid, establishing one for all rare diseases with doctors specializing in cvid could help.
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creating better clinical infrastructure to support the influx of new drugs
many of the drugs created for rare diseases are biologics. while highly effective and viable, these drugs require specialized storage and administration. the current clinical infrastructure is far from the level it needs to be at to support the demands of these new novel therapies.
“a lot of these new drugs will require special storage conditions, either in the freezer up to minus 80, and a lot of these therapeutics also require special delivery,” said tea. “so, the infrastructure should be ready over the next ten years.”
the idea is to use the funding now so that the entire system is well-prepared in the near future.
adopting new and novel healthcare financing strategies and collaboration
one of the most significant hoops people with rare diseases have to jump through is financial access to drugs. many people can’t afford the drugs they desperately need. while some programs offer financial assistance, sometimes it’s simply not enough, or the criteria are so strict that getting the help is challenging.
for example, pharmacare is available to offset costs, but its criteria are not as easy to meet as they could be, especially for certain drugs used in rare disease treatments.
the program calculates a person’s coverage needs based on their income. specific needs need to be met during a set time period. if any part of the application or paperwork is submitted outside of that window, even by a few days, a patient could be denied the funding they need and left to pay out of pocket for lifesaving drugs.
in ashley’s case, it was a clerical error that led to her being denied the funding she needed and the ensuing financial burden of paying for her medication.
“i had to have so many hospital admissions, had to have all these different circumstances,” she said. “i had met the diagnostic criteria, but there was an error in getting that paperwork to the doctor because it had to be within a six-month period,” ashley said. “it’s because they read it too late.”
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when a medical professional submitted ashley’s documents, it was four days past the window, and because of that, she did not get adequate funding, stating that “there’s no protocol for that. so, it’s kind of like, if the doctor doesn’t do it for you, oh well.”
these situations, and the sheer cost of the drugs when people have to pay out of pocket, need to be addressed within the national strategy for drugs for rare diseases.
funding should also be considered in regard to qualifying diseases for various care programs. for example, someone living with diabetes is likely to have a much easier time applying for a mobility aid because it is well-known that these more common conditions are included on qualifying conditions lists. rare diseases, however, are not.
“our diseases will never be there because of their rarity,” said wong-rieger. “so, they’re not going to be, if you get supplemental assistance in the school (for example), it will not necessarily be recognized because those diseases are small numbers. they don’t end up on anybody’s named list.”
according to tea, provinces and federal governments must “be more creative from a funding model perspective” to accomplish this goal.
encourage patient engagement in the process of healthcare planning
giving the patient a seat at the table when discussing where the funding will be allocated, what drugs are being introduced, and how people can access them is vital when creating new strategies in the rare disease space. however, in the past, people living with rare diseases weren’t given as much weight in the conversation as they should be.
patient organizations, who also act as advocates and work tirelessly to improve access to care, provide resources, and support people in getting the proper medications for their rare diseases, are also somewhat slighted when it comes to these discussions, albeit less than the patients themselves, even if they bring valuable knowledge and insight into what truly needs to be done to change patients’ lives in a meaningful way.
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“at the end of the day, it’s for all of us that the money is spent as wisely as possible in terms of getting the best return on investment,” said wong-rieger, referring to how it would take a collaborative approach to ensure the money is going the right places.
the funding allocated to rare diseases should be spread across these six key initiatives, which can improve the state of rare diseases in the country.
for now, people like ashley will continue to contend with the barriers they’ve faced throughout their lives, but with these new initiatives being implemented, hope is on the horizon.
“i have a great deal of hope this funding will change the reality for those with rare diseases, and i hope they consult with patient advocacy groups to direct funding to those disproportionately impacted by the cost of these medications,” she said.
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