Newborn Screening Ontario (NSO) is an Ontario provincial program coordinating early screening of newborns for treatable diseases, to enable faster interventions and improved outcomes. NSO engages in analysis, follow-up, education, and research and development activities. Screening focuses on six groups of disease: metabolic, endocrine, sickle cell, cystic fibrosis, severe combined immune deficiency, and spinal muscular atrophy. Screening is also done for critical congenital heart disease, biliary atresia, and permanent hearing loss. Real-world data is generated through NSO from newborn test results and demographic and follow-up information. With approval from the Children’s Hospital of Eastern Ontario’s (CHEO) Research Ethics Board, NSO data may be used in rare disease research.

Patient Involvement: Patients and their families contribute essential data by participating in NSO’s newborn screening program.

Initiatives: In 2020, NSO was the first provincial newborn screening program in Canada to diagnose spinal muscular atrophy (SMA).

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