Drugs for Rare Diseases

Guidance on Newborn Screening in Canada

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.

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

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

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

Dr. Hilary Vallance, MD, FRCPC, FCCMG

British Columbia

Dr. Hilary Vallance is the Medical Director of the BC Newborn Screening Program and a medical biochemist and biochemical geneticist at BC Children’s Hospital. Hilary has worked in partnership with BC First Nations communities to research the clinical significance of a gene variant common in First Nations People in Canada. Hilary has more than 50 peer-reviewed publications on newborn screening and inborn errors of metabolism.

Conflict of Interest Disclosure

Whitney Ayoub-Goulstone, BA, BPA

British Columbia

Whitney Ayoub-Goulstone is the Executive Director of Immunity Canada. Whitney is also the past chair of the Network of Rare Blood Disorder Organizations, a board member of the International Patient Organisation for Primary Immunodeficiencies, a member of the patient network for the APEC Business Ethics Forum, and the Secondary Immune Deficiency Exploratory working group. Whitney has been working in patient advocacy and engagement for 15 years.

Conflict of Interest Disclosure

Heather Heinrichs, RM, IBCLC

Northwest Territories

Heather Heinrichs is a registered midwife and helped establish a midwifery program and return birthing services to Hay River, Northwest Territories. Heather is a proud member of the National Council of Indigenous Midwives and firmly believes in their vision of there being Indigenous midwives working in every Indigenous community.

Conflict of Interest Disclosure

Dr. Sam Wong, MD, FRCPC

Alberta and Northwest Territories

Dr. Sam Wong is a pediatrician working part-time in Yellowknife in general pediatrics and is intensely interested in rural, northern, and Indigenous pediatric health. Sam is also a part-time hospital pediatrician at the Stollery Children’s Hospital in Edmonton and a clinical professor in the Department of Pediatrics at the University of Alberta, as well as the current Director of Medical Affairs, and former President (2020-2021) of the Canadian Pediatric Society.

Conflict of Interest Disclosure

Grace Johner, BSc

Alberta

Grace Johner is the Manager of Newborn Screening Programs at Alberta Health Services. Grace’s experience spans over 2 decades, with 14 years in population health, preceded by 14 years in the biotechnology and biopharmaceutical industries. Most recently, Grace oversaw the successful implementation of a provincial newborn hearing screening program and 2 bloodspot screening panel expansions.

Conflict of Interest Disclosure

Dr. Nick Antonishyn, MSc, PhD, D(ABMGG), FACMG, FCCMG

Saskatchewan

Dr. Nick Antonishyn is the Provincial Clinical Co-Lead for Genomics in Saskatchewan and a Molecular Geneticist. Nick has also received board certification from the American Board of Medical Genetics and Genomics and is an Assistant Professor with the Department of Pathology and Lab Medicine at the University of Saskatchewan and an Adjunct Professor with the University of Regina.

Conflict of Interest Disclosure

Dr. Paul Van Caeseele, MD, FRCPC

Manitoba

Dr. Paul Van Caeseele is the Medical Director of Cadham Provincial Laboratory and Chair of the Manitoba Newborn Screening Committee. Paul is a consultant on the Pediatric Infectious Diseases Service, a Travel Health Physician at the WRHA Travel Health and Tropical Medicine Clinic, and a Professor in the Departments of Medical Microbiology and Infectious Diseases and Pediatrics and Child Health.

Conflict of Interest Disclosure

Dr. Durhane Wong-Rieger, PhD

Ontario

Dr. Durhane Wong-Rieger is the President & CEO of the Canadian Organization for Rare Disorders, Chair of the Consumer Advocare Network, President & CEO of the Institute for Optimizing Health Outcomes and Chair of Canadian Heart Patient Alliance. Durhane has served and continues to serve on numerous national and international health policy advisory committees and panels on rare diseases.

Conflict of Interest Disclosure

Jennifer Milburn, MHA

Ontario

Jennifer Milburn is the Executive Director of Newborn Screening Ontario at the Children’s Hospital of Eastern Ontario in Ottawa. Jennifer has worked in progressive health care leadership positions for more than 15 years and volunteers as vice-chair of the Winchester District Hospital Board and treasurer of the Ottawa Birth and Wellness Centre Board.

Conflict of Interest Disclosure

Sara Wolfe, MBA ICD.D

Ontario

Sara Wolfe is a First Nations nurse and midwife with more than 25 years of experience working in the front lines and primary care. Sara was the founding partner and managing director of Seventh Generation Midwives Toronto, co-led the development and implementation of the Toronto Birth Centre, and was a community research associate with the Well Living House at the Centre for Research on Inner City Health at St. Michael’s Hospital.

Conflict of Interest Disclosure

Prof. Bartha Maria Knoppers, PhD

Quebec

Professor Bartha Maria Knoppers is a full professor, Canada Research Chair in Law and Medicine, and Founding Director of the Centre of Genomics and Policy at McGill University. Bartha was the founder of the Public Population Project in Genomics and CARTaGENE, Quebec’s population biobank. Bartha was also the chair of the Ethics and Governance Committee of the International Cancer Genome Consortium and the co-chair of the Regulatory and Ethics Workstream of the Global Alliance for Genomics and Health.

Conflict of Interest Disclosure

Dr. Yves Giguère, MD, PhD, FRCPC

Quebec

Dr. Yves Giguère is the Director of the Québec Newborn Blood Screening Program. He is also currently head of the Department of Laboratory Medicine of the CHU de Québec and Medical Director of the Capitale-Nationale Laboratory Services. Yves is a medical biochemist at the CHU de Québec-Université Laval, where the clinical practice is centred on newborn screening and molecular diagnostics, and a full professor at the Department of Molecular Biology, Medical Biochemistry and Pathology of the Faculty of Medicine, Université Laval.

Conflict of Interest Disclosure

Dr. Zaiping Liu, MD, FRCPC

Nova Scotia

Dr. Zaiping Liu is a practicing Diagnostic and Clinical Pathologist (general pathologist) at the IWK Woman’s and Children’s Health Centre in Halifax, NS. Zaiping is the medical lead of the Maritime NBS and Biochemical Genetics Testing services. Zaiping also completed their fellowship training in Medical Biochemistry, including targeted fellowship training in Newborn Screening and Biochemical Genetics Diagnosis.

Conflict of Interest Disclosure