New Pan-Canadian Recommendations for Newborn Screening in Canada

Canada’s Drug Agency has published new guidance to support newborn screening programs in Canada, which play an important role in the early diagnosis of serious conditions and rare diseases.

This guidance was developed by the Newborn Screening Advisory Panel to support the National Strategy for Drugs for Rare Diseases and builds on prior newborn screening work in Canada.

Overview of the Guidance

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.

All provinces and territories in Canada conduct newborn screening, but the conditions they screen for may differ. Because of the variation in screening practices and policies across jurisdictions, an opportunity was identified to provide support and guidance to decision-makers on a pan-Canadian approach to newborn screening. 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.

Building on learnings from existing programs and processes, the advisory panel developed a set of nonbinding short-term (1 to 2 years) and medium-term to long-term (3 years or more) recommendations across 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 support movement toward 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]).  

Read the final report for a complete list of recommendations, or our short summary document outlining the key points from the report, as well as the recommendations.

Input and Engagement With Affected Communities

In developing the guidance, the advisory panel recognized the importance of engaging with the public, interested parties, decision-makers, and those directly affected by or involved with newborn screening. An online call for feedback on a discussion paper, which outlined the advisory panel’s proposed approach for developing the guidance, was launched in the summer of 2024. Individuals from First Nations, Inuit, and Métis communities as well as those who provide community birthing care and who are from (or work with) underrepresented and underserved populations were also engaged through focus group discussions and key informant interviews.

The advisory panel would like to thank everyone who contributed input and participated in our engagement activities. Your perspectives have been instrumental in the development of this guidance.

Future Direction

With an estimated 60 new transformative cell and gene therapies anticipated over the next decade, newborn screening will continue to play a crucial role in the early detection of serious conditions in newborns, including rare diseases, helping to ensure they have timely access to potentially life-saving treatments.

The advisory panel and the individuals who participated in the engagement activities believe that newborn screening is an important public health matter and that the recommendations can help advance the screening and early diagnosis of rare diseases in Canada, ultimately supporting improvements to the health of patients in Canada.

Quick Facts

• With support from the Government of Canada under the National Strategy for Drugs for Rare Diseases, Canada’s Drug Agency is leading a series of initiatives to improve the quality and use of evidence to inform and support decision-making.