The Metabolics and Newborn Screening Program was started in 2002 and is based within the uOttawa Faculty of Medicine’s Department of Pediatrics at the Children’s Hospital of Eastern Ontario (CHEO).

It consists of the Metabolics and Newborn Screening Clinic as well as the Newborn Screening Retrieval Centre.

The Metabolics and Newborn Screening Program provides diagnostic and treatment services to children and adults with inborn errors of metabolism (IEM). The program has three physician faculty members, two scientific faculty members as well as a dietician and some social worker support. The Metabolics and Newborn Screening Program consults and treats approximately 1,000 patients each year.

The Newborn Retrieval Centre is staffed by a full-time nurse with coverage by the genetics counselling services. Newborn Screening Ontario (NSO) is based at CHEO and is the largest program of its kind in Canada, with state of the art equipment and expertise. 

NSO actively encourages training, educational and research opportunities within the program. While it is a separate laboratory and clinical program, the medical and scientific personnel are cross-appointed to the Metabolics and Newborn Screening Program within the uOttawa Department of Pediatrics.

Related links

Clinical programs

Inpatient care 

The Metabolism and Newborn Screening clinical program is primarily a consulting service, although patients with certain inborn errors of metabolism (IEM) are the sole responsibility of Metabolics. There are approximately 200 inpatient consults per year. 

Outpatient care

The Metabolism and Newborn Screening clinical program sees patients for a range of metabolic conditions. There are seven half-day clinics per week as well as walk-in availability for urgent cases. Approximately 1,000 patients are seen per year.

The Newborn Screening Retrieval Centre locates and facilitates the diagnosis of screen positive babies within the Champlain Local Health Integration Network (LHIN) as well as northern and western areas of Ontario. Approximately 200 babies are retrieved and seen every year through this program.

Clinical problems and diseases evaluated and followed

  • Diagnosis and management of inborn errors of metabolism (IEM)
  • Diagnosis of patients with possible metabolics disorders including Autism, developmental delay, neurodegenerative disorders, encephalopathy, leukodystrophies and neuromuscular disorders 
  • Locate and facilitate the diagnosis of screen positive babies through the Newborn Retrieval Centre including genetic errors of metabolism, endocrine disorders, hemoglobinopathies, cystic fibrosis and severe combined immune deficiencies 

Laboratory and diagnostic programs

Newborn Screening Ontario (NSO) is the provincial program responsible for screening all newborn babies in Ontario. The program screens for more than 28 different diseases using a variety of biochemical and molecular testing. NSO screens approximately 145,000 samples per year and coordinates all aspects of the screening including education, sample collection and transport, analysis, reporting and outcome follow up. 

Biochemical technologies used in the laboratory include automated immunoassays, tandem mass spectrometry, a variety of chromatographies and enzymology. Molecular techniques include mutation detection assays, quantitative polymerase chain reaction (qPCR), DNA identity assays as well as sequencing - Sanger and next-generation sequencing (NGS). 

NSO offers rotations for laboratory and clinical trainees as well as research opportunities at undergraduate (thesis/summer) graduate and postgraduate levels.


The faculty of the Metabolism and Newborn Screening Program are involved in the following research areas:

  • The molecular and pathophysiological basis of rare diseases, especially in regard to inborn errors of metabolism. Many of the Metabolics Program publications relate to the description of novel metabolic disorders, expanding the phenotype of known disorders and finding the genes responsible for metabolic diseases. 
  • Long-term outcomes of the management and treatment of inborn errors of metabolism through a national consortium to examine patient outcomes, experiences and costs of treating inborn errors of metabolism. 
  • Application of technology including next generation sequencing (NGS) to screening and diagnosis of inborn errors of metabolism such as development of novel mass spectrometry assays. 


Training programs

Postgraduate training program

The Metabolics Program is accredited for training in biochemical genetics – both laboratory and clinical – by the Canadian College of Medical Geneticists (CCMG). The CCMG program is a fellowship consisting of one to two years of training leading to eligibility for examination and accreditation by the CCMG.CCMG). The CCMG program is a fellowship consisting of one to two years of training leading to eligibility for examination and accreditation by the CCMG.

Additional postgraduate training 

We also consider applications for research and clinical non-accredited postgraduate training from interested trainees. 

Additionally, both the Metabolics Clinical Program and Newborn Screening Ontario (NSO) provide teaching and training to students, residents, fellows and outside trainees through electives and formal didactic courses such as academic half days and grand rounds.