National Marfan screening guidelines
Petitioners ask the federal government to create national Marfan screening guidelines, require genetic and cardiac screening for IVF and high‑risk pregnancies, and fund clinician/public education. The government responds it funds a national rare‑disease strategy.
Why we would sign this petition
- Would enable earlier diagnosis and monitoring of Marfan, reducing risk of life‑threatening complications such as aortic dissection.
- Standardized screening and clinician education would make recognition more consistent across Canada and improve care for IVF and high‑risk pregnancy patients.
- National guidance plus support for registries and research would strengthen diagnostics and help develop better, targeted treatments over time.
Why we wouldn’t sign this petition
- Would impose costs and operational demands on health systems; provinces may face challenges adopting a national mandate.
- Screening can produce false positives and clinical uncertainty; without clear, evidence‑based criteria it could increase unnecessary testing and anxiety.
- A national mandate risks duplicating or conflicting with the existing national rare‑disease strategy that already funds screening, registries and provincial programs.
The summary and both sets of reasons are AI-generated from the petition and given equal weight. Claims are the petitioners’ own; consult the official record for the full text.
Official petition
Petition to the Government of Canada Marfan Syndrome and other connective-tissue disorders often go undiagnosed, despite clear clinical signs such as scoliosis, hypermobility, long-limb proportions, and early connective-tissue complications; Early recognition and routine screening protocols could prevent fatal outcomes such as aortic dissection, especially among young people, and there is no consistent national standard requiring physicians to screen or refer patients with connective-tissue indicators (e.g., scoliosis, eye or skeletal abnormalities) for Marfan Syndrome testing; Increased education and awareness among healthcare professionals and the public could lead to earlier diagnosis and life-saving monitoring; IVF and pregnancy patients with a history of connective-tissue disorders are at heightened risk of cardiovascular complications and should receive appropriate genetic and cardiac assessments; and There is currently no national guideline requiring physicians to screen patients with connective-tissue indicators (for example, scoliosis, eye or skeletal abnormalities) for Marfan Syndrome. We, the undersigned, residents of Burlington, Ontario, Canada and citizens of Canada, call upon the Government of Canada to: 1. Establish national screening guidelines for Marfan Syndrome and related connective-tissue disorders, especially for patients presenting with scoliosis or similar connective-tissue indicators; 2. Implement national education and awareness programs for physicians, specialists, and other health-care professionals on identifying and managing connective-tissue disorders; 3. Require genetic and cardiac screening protocols for IVF and high-risk pregnancy patients with connective-tissue indicators; and 4. Support public awareness initiatives to educate Canadians on the signs and risks of Marfan Syndrome and the importance of early detection.
Government response
Response by the Minister of Health Signed by Maggie Chi People living with rare diseases, including Marfan Syndrome, face unique and often daunting barriers to receiving care. Obtaining a diagnosis can take years. Accessing specialized care can be difficult depending on where one lives. And for many families, the emotional and financial burden is profound. In Canada, it is estimated that one in twelve people has a rare disease. Too often, diagnostic services and treatments are unavailable, unaffordable, or unevenly accessible across jurisdictions. Our Government recognizes the importance of improving access to affordable and effective drugs for rare diseases. That is why our Government has already taken significant steps to improve access to treatments and strengthen supports across the country for those living with rare diseases. The first-ever National Strategy for Drugs for Rare Diseases was launched in March 2023, supported by up to $1.5 billion over an initial three years. This Strategy is designed to increase access to effective therapies and make them more affordable for people living with rare diseases and their families. Through bilateral agreements with all 13 provinces and territories, $1.4 billion is being invested to improve access to new and existing rare disease drugs, and to enhance early diagnosis and screening programs. There are however no drug products authorized by Health Canada with a specific indication for Marfan syndrome. Management in Canada relies on off-label pharmacologic use of existing cardiovascular drugs (e.g., beta-blockers or angiotensin receptor blockers) combined with non-pharmacological monitoring and surgical interventions, consistent with international clinical practice. In addition to covering the cost of drugs for rare diseases, provinces and territories are permitted to use Strategy funding for other eligible expenditures set out in bilateral agreements, for example costs associated with improving and broadening rare disease treatments and services, including screening and diagnostics initiatives. Improving training, professional development, and capacity for healthcare providers, and increasing of capacity in diagnostic testing and use of genetic-based approaches would be examples of such expenses. In the third year of the bilateral agreements (2026-2027), provinces and territories are required to use 10% of their Strategy funding on improvements to screening and diagnostics for rare diseases. Through the Strategy, the Government of Canada has funded Canada’s Drug Agency (CDA-AMC) to improve how evidence is collected and used to support decisions across the drug lifecycle. This includes strengthening screening process across the country and improving patient registries. CDA-AMC established an Advisory Panel to develop foundational pan-Canadian guidance for newborn screening, releasing the final report in 2025. The agency is now building on this work by monitoring emerging rare conditions, building shared language and understanding in screening programming, and piloting review and recommended practices for building a common list of conditions to be screened for across Canada. CDA-AMC has also released a registry inventory that includes the Canadian Aortopathy and Connective Tissue Disorders (CAN-ACT) Registry, which captures information on Marfan Syndrome, various standards and guidelines related to rare disease registries, and funded 18 registries to enable quality improvements, and an additional funding initiative has launched for 2026-27. Improvements to rare disease registries can be essential for enabling research, building understanding of patient outcomes, and ultimately support better patient care. Research also plays an essential role in improving the lives of those affected by Marfan Syndrome and their families. The Canadian Institutes of Health Research (CIHR) is Canada’s federal funding agency for health research, investing $1.3 billion into grants and awards in 2024-25. CIHR aims to excel in the creation of new knowledge and its translation into improved health for Canadians, more effective health services and products, and a strengthened Canadian health care system. The National Strategy for Drugs for Rare Diseases is providing $32 million over five years to CIHR to advance a rare disease research agenda, developing better diagnostic tools and establishing a robust Canadian rare disease clinical trials network. Through this funding the Government is supporting cutting-edge work across the country aimed at improving diagnosis, treatment, and quality of life for people with rare diseases. We know that this work will help more Canadians have access to the information they need regarding rare diseases as well as effective treatment for these illnesses. Outside of the Strategy, in the last few years CIHR has invested in research relevant to Marfan Syndrome, including through the following Project Grants: A study led by Dr. Bernatchez at the University of British Columbia to examine why animals with stronger blood-flow–driven nitric oxide signals are protected from aortic disease compared with animals with normal blood flow. Researchers will compare two drugs, telmisartan and losartan, in people with Marfan syndrome—a genetic condition that weakens the aorta—and look for new blood markers that show whether telmisartan is improving vessel health. Marfan animal models will help clarify the biological reasons behind these differences. Research led by Dr. Hallgrimsson at the University of Calgary to develop better ways to diagnose connective-tissue disorders and predict who is at highest risk for dangerous aortic tears. Researchers will test whether visible features—like body proportions, facial shape, or eye findings—track with overall tissue weakness. They will study both people and animal models, including those with gene changes linked to aortic rupture. The goal is to create simple, reliable tools that help identify high-risk individuals earlier and guide their care. A study led by Dr. Reinhardt at McGill University to look at how the protein fibrillin-1 guides the formation and function of fat cells, using mouse and cell-culture models to see why losing this protein early leads to too much fat while losing it later leads to too little. By examining fat tissue, stem cells, and fibrillin-1 mutations, the project aims to uncover the molecular pathways that explain fibrillin-1’s dual role in fat-cell development and metabolism, ultimately pointing toward new treatment strategies for Marfan syndrome and related disorders. Eligible Marfan Syndrome researchers in Canada and their partners, including those advancing research on screening, diagnosis, early detection, and clinical care are encouraged to explore CIHR’s funding opportunities. These investments play an important role in supporting the evidence base to inform decision-making.