Diseases

Drugs for Rare Diseases

Newborn Screening Guidance

Guidance on Newborn Screening in Canada

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As a part of the Government of Canada’s National Strategy for Drugs for Rare Diseases, Canada’s Drug Agency is supporting the development of pan-Canadian guidance for newborn screening as one of the key activities under the strategy. The overall goal of the guidance is to help foster greater consistency in the types of conditions tested and screened for in newborns across Canada, leading to earlier identification, and the potential for more timely and appropriate access to effective treatments and interventions.  

Newborn screening is a term that refers to the tests that are done shortly after birth to check for serious conditions and rare diseases, enabling early treatment with the aim of improving health outcomes in children.

In Canada, newborn screening programs are established and funded by provinces and territories, with each jurisdiction having its own decision-making processes, policies, and approaches. Because of the variation in approaches to newborn screening across provinces and territories, there is an opportunity to provide support to decision-makers by convening experts to provide the best available advice across Canada. 

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The Advisory Panel’s Recommendations Report  

In January 2024, Canada’s Drug Agency established a Newborn Screening Advisory Panel to develop the pan-Canadian guidance for newborn screening. Building on learnings from existing programs and processes, and through engagement with interested parties, the advisory panel developed guidance on 7 key areas related to newborn screening. They developed nonbinding, short-term (1 to 2 years) and medium-term to long-term (3 years or more) recommendations across the 7 areas.  

Recommendations relate to: 

  • adopting a set of guiding principles (core values) to guide newborn screening work in Canada
  • work toward a future pan-Canadian newborn screening governance model
  • a recommended pan-Canadian list of conditions to screen for in newborns (25 conditions were identified to act as a foundation to foster discussion and decision-making leading to more consistent screening for newborns across Canada)
  • enhancing processes for adding or reassessing conditions on the recommended list  
  • criteria for adding or reassessing conditions on the recommended list  
  • anticipating emerging conditions that could be added to the list in the future (29 emerging conditions were identified for monitoring, as they may be considered for future inclusion on the recommended list)  
  • other considerations for newborn screening at the pan-Canadian level (several out of scope topics for this work were identified for further exploration as part of future work [e.g., genomic sequencing, laboratory infrastructure, and data sharing]).  
     

Final Report 

Report Summary

Engaging With Interested Parties 

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Engaging with individuals and communities was essential to ensure the advisory panel’s work was grounded in the lived experiences and diverse perspectives on this important health topic. We engaged with a range of individuals, organizations, and groups to gather input, clarify information, and foster understanding about newborn screening in Canada.  

The advisory panel published a discussion paper outlining the proposed guidance for pan-Canadian newborn screening. We hosted a public webinar on the advisory panel’s draft guidance and sought written feedback on it through a public call launched in summer 2024. In September 2024, individuals from First Nations, Inuit, and Métis communities as well as birthing care providers from or working with underrepresented and underserved populations also provided input on the guidance through focus group discussions and key informant interviews.

On behalf of the advisory panel, we would like to thank the individuals who participated in our engagement activities. Your engagement and perspectives have been instrumental in supporting the recommendations set out in the newborn screening report. As part of our commitment to our principle on transparency, all comments received through the online consultation form are publicly posted. The focus group discussions and key informant interviews have also been summarized. 

Read Online Consultation Submissions

Read Summary from Focus Groups With First Nations, Inuit, and Métis Peoples 

Read Summary from Focus Group and Interviews With Community Birthing Care Providers 

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Highlights from the Input Received 

During our most recent webinar in March 2025, Dr. Hilary Vallance and Whitney Ayoub-Goulstone, co-chairs of our Newborn Screening Advisory Panel, discussed highlights of the input received on the discussion paper. The session provided an overview of the input received and how it informed the advisory panel’s deliberations and recommendations.   

Watch March 2025 Webinar

View March 2025 Webinar Slides