Overview of Newborn Screening in Canada
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. In particular, the early identification of rare diseases through newborn screening can lead to more timely diagnosis and appropriate access to treatments and supports early in life.
In Canada, newborn screening programs are established and funded by 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.
Activities
By building on existing work, assessing the latest evidence, and convening an expert panel, CADTH will deliver guidance to inform pan-Canadian decision-making around various issues, such as a process to identify potential new screening conditions for consideration, screening criteria, equity and ethical considerations. This guidance may help foster greater consistency on the types of conditions tested and support earlier diagnoses, timelier access to treatments, and potentially better health outcomes.
The process of updating newborn screening to reflect emerging developments in this space may have implications for reimbursement, data collection, and system capacity, and include evolving social, ethical, and equity considerations.
Newborn Screening Advisory Panel
CADTH has established the Newborn Screening Advisory Panel, which will develop pan-Canadian guidance for decision-makers. 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, and to recommend proposed conditions for which newborn screening programs in Canada can screen
- where appropriate, identifying the potential need for additional evidence on emerging newborn screening tests through CADTH’s 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.
Engaging with Affected Communities
To inform the advisory panel’s deliberations, CADTH will engage a range of individuals, organizations, and groups to gather input, clarify information, and foster understanding. CADTH will post updates on engagement activities and opportunities to provide input and feedback as they become available.
Newborn Screening Advisory Panel Members
The advisory panel is composed of 2 cochairs and 11 members who come from across Canada and represent dimensions of difference, including gender, culture, and race. The advisory panel brings together a range of expertise and experience, including health care providers (e.g., clinicians, program administrators, researchers), persons with lived and living experience, and individuals with backgrounds in ethics, law, and health administration.
Project Timeline
