Canada’s genetic testing not ready for influx of rare disease drugs: Takeda Canada report

Canada needs an equitable, pan-Canadian genetic testing system, argues a new report, “Enhancing Diagnosis, Access, Care and Treatment: Recommendations for Health System Readiness for Rare Diseases in Canada.” Created by the pharmaceutical company Takeda Canada, the report looks at the healthcare system’s readiness for new drugs for rare diseases, pointing out that 200 are expected to launch in Canada over the next decade. “The global scale of DRD development is encouraging and hopeful,” Jefferson Tea, vice president of medical and scientific affairs at Takeda, said in a press release. “We are proud to present this report to help health policy makers across Canada strategically prepare for the introduction of new DRDs so that patients and families living with rare diseases have fewer barriers in accessing these important treatments when they become available.”Read: B.C., Ottawa ink $426M deals to support care assistants, drugs for rare diseasesGenetic testing is important because it allows patients access to medication. One-quarter of drugs for rare diseases require genetic testing to confirm the diagnosis before they can be used, the report found. It also reduces the amount of time before a diagnosis. The average person with a rare disease searches for a correct diagnosis for six to eight years, sees eight physicians and gets two to three misdiagnoses before they find it. Having an accurate diagnosis earlier would reduce patients' distress and lower the strain on the healthcare system by reducing these unnecessary visits in search of a diagnosis. It’s especially important for people with progressive rare diseases, as it would allow them to get treatment as early as possible. Read: Ottawa to spend $1.5 billion to improve access to drugs for rare diseasesBut Canada’s current system—mostly newborn screening programs —varies from province to province. These are important as over half of the drugs for rare diseases in the pipeline are for conditions that affect children. A national approach to newborn screening was presented in a 2023 report from Immunity Canada and the Network of Rare Blood Disorder Organizations. It contained recommendations and guidelines around a comprehensive screening program through a National Newborn Screening Advisory Committee. Canada’s Drug Agency is also creating a report on newborn screening that’s expected to be completed on March 31, 2025.Access to next-generation sequencing, which offers more information and can even analyze entire genomes, is also limited, as it is currently used mostly in research settings. The Takeda report points to six other areas that could be improved as well as genetic testing: physicians having a better knowledge of both the conditions and treatments; not having delays in accessing physicians; having the infrastructure for specialized injections and IVS (both common ways that drugs for rare diseases are administered); creating innovative funding models and including patient engagement. Read: Alberta announces expansion of newborn screening program, research for women’s health

Canada’s genetic testing not ready for influx of rare disease drugs: Takeda Canada report

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