Send to

Choose Destination
Paediatr Child Health. 2005 Apr;10(4):203-7.

Newborn screening in Canada - Are we out of step?

Author information

The Hospital for Sick Children, Toronto, Ontario.



To review the status of universal newborn screening programs in Canada.


A brief questionnaire (seven questions) was circulated to one key individual in each province (n=10) and territory (n=3). These individuals were usually physicians or clinical biochemists closely involved in the diagnosis and treatment of genetic metabolic diseases.


Universal newborn screening is under provincial jurisdiction. The number of diseases screened for varies and ranges from three to 28. Nine provinces/territories have a central computerized system for tracking initially positive cases. Only five provinces/territories have adequate personnel and resources for follow-up and treatment. Treatment costs are only partially covered in most jurisdictions. Only five provinces/territories have formal advisory committees with official mandates. Expensive, restricted access treatment products for adults with inherited metabolic diseases are only fully available in six provinces/territories. There is very limited access to these products in an additional four provinces/territories. To date, specific informed consent for newborn screening is not required in any province or territory.


Canada is far behind the rest of the developed (and some 'emerging') countries of the world in the field of universal newborn screening. New strategies for advocating expanded screening, follow-up and (long-term) payment of treatment costs on behalf of the potentially affected infants and their families must be devised, and such initiatives should include participation from the new Public Health Agency of Canada.


Congenital hypothyroidism; Hearing screening; Inherited metabolic disease; Newborn screening; Phenylketonuria; Tandem mass spectrometry

Supplemental Content

Full text links

Icon for PubMed Central
Loading ...
Support Center