The Newborn Screening Advisory Panel has published a discussion paper outlining its approach for developing newborn screening guidance.

The discussion paper includes the foundational elements that will underpin the recommendations, such as:

• developing a proposed common set of guiding principles for newborn screening
• exploring a proposed process and criteria for adding or removing conditions
• recommending conditions that newborn screening programs in Canada could screen.

Newborn screening is a term that refers to the tests that are done shortly after birth to check for serious but treatable diseases. Newborn screening helps to identify certain conditions as early as possible to prevent serious health problems. The early identification of rare diseases through newborn screening can lead to more timely diagnoses and appropriate access to treatments and supports early in life.

In Canada, newborn screening programs are established and funded by the individual provinces and territories; each provincial program has its own decision-making processes, policies, and approaches. Because of the unique approaches to newborn screening across provinces and territories, there is an opportunity to provide support to newborn screening program decision-makers by convening experts to provide the best available advice across Canada.

As our understanding of rare diseases grows and the landscape of diagnostic tests, genetic tests, and therapies for these conditions expands, the role of newborn screening as a driver of better health outcomes will continue to evolve.

We have established the Newborn Screening Advisory Panel, which will develop pan-Canadian guidance for decision-makers about newborn screening. By providing the most current evidence available and a forum to discuss it, we hope to create opportunities to better understand and address variations in screening practices, which could, over time, result in greater consistency.

The scope of work for the advisory panel includes:  

• proposing a common set of guiding principles for newborn screening in Canada through reviewing and building on existing practices and guidance
• building on existing work to develop a proposed approach for the addition or removal of conditions for screening and to recommend proposed conditions that newborn screening programs in Canada can screen  
• where appropriate, identifying the potential need for additional evidence on emerging newborn screening tests through our existing health technology assessment infrastructure.  

The issues that are considered out of scope for the advisory panel include an assessment of:  

• individual newborn screening program processes
• funding for implementation of recommendations (e.g., funding allocation, financial contributions, individual program budgets or projected estimates for those budgets)
• laboratory service agreements and processes
• sharing of records, including patient-level data
• matters relating to private insurance coverage
• drugs and/or treatments for rare diseases
• negotiation or review of commercial test prices
• prenatal genetic testing.

The advisory panel will produce a final guidance report in early 2025 that will offer nonbinding recommendations. The report will be submitted to Health Canada, shared with provincial and territorial governments, and made publicly available.