Last month, the province of Ontario celebrated the launch of a new life-saving screening test for newborns. The test is for a disease called Severe Combined Immune Deficiency (SCID), widely known as “Bubble Boy Disease” from the story of David Vetter, a boy with SCID who lived in a plastic, germ-free bubble. Babies with SCID do not have an immune system; they appear healthy at birth but are prone to life-threatening infections within a few months of life. Luckily, due to significant advances in the understanding of the disease, children with SCID are no longer confined to bubbles, and early detection through screening allows the disease to be cured with a bone marrow transplant.

While the addition of SCID to Ontario’s newborn screening panel is great news for Ontario babies, it also highlighted the variation in the number of diseases screened in each province and territory. It is of great concern that Canada has no national standard for newborn screening; in fact, this issue was recently highlighted in the Globe and Mail.

The decision to screen for a particular disease is currently determined at the provincial level and each newborn screening program is at the mercy of approval and funding from their provincial government. All provinces and territories have a process in place to determine the addition of a new test to their newborn screening panels. What is lacking is any federal policy surrounding newborn screening. While the federal and provincial governments would have to work together and overcome several obstacles to establish a national standard for newborn screening, the outcome of ensuring healthcare equality to Canadian newborns must surely be worth the endeavour.

In the meantime, great advances such as the addition of SCID screening in Ontario will continue to be fragmentary; good news for some and not for others. If you recently had, or are expecting a baby, make sure to learn more about what newborn screening tests are in place for your province or territory.

Lauren Higgins, MSc, CCGC Genetic Counsellor,
Newborn Screening Ontario
Children's Hospital of Eastern Ontario