COMMENTARY: Atlantic newborn screening lags rest of Canada

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Gaby Bourbara, general manager of Alexion Canada, provided the following opinion article.

The arrival of a newborn can be so overwhelming, many Canadian parents are unaware of the potentially life-saving screening tests performed on their baby before they leave the hospital. And if they do recall that simple heel-prick test, they likely are not aware of the testing disparities based simply on where they live.

In Canada, the current state of newborn diagnostic screening is a postal code lottery. The availability and scope of tests conducted on newborns vary depending on the province or territory. This inconsistency creates significant gaps in identifying potential health conditions, leaving infants vulnerable to missed opportunities for early intervention and treatment. The consequences of these disparities are far-reaching, affecting not only the child but their families and our health-care system as a whole.

Lifelong consequences

The heel-prick test involves a small blood sample collected on a special paper card and sent to a lab for analysis. The vast majority of babies – about 99 per cent – will receive a “screen negative” or normal result. Canadian parents often forget the test took place, and then they don’t hear anything further about it. But if a newborn tests positive, they are sent for further testing.

This approach is a great one, but depending on where you live, this test screens for anywhere from 18 genetic and rare diseases in Quebec to more than 40 in Manitoba. The Atlantic provinces are on the lower end screening for 22 disorders while Ontario screens for 30. Provinces and territories decide which tests to include. As a result, a baby in one province may be tested for almost half as many disorders and rare diseases as a baby in another.

Newborn screening

Number of diseases tested for, by province or region:

• Quebec 18
• Atlantic Canada 22
• Alberta, NWT and Nunavut (Kitimeot) 22
• British Columbia and Yukon 27
• Ontario and Nunavut (Baffin) 30
• Saskatchewan 32+
• Manitoba and Nunavut (Kivilliq) 40+

Every child in Canada should have equal access to comprehensive medical care from the very beginning, setting them on a path towards a healthy life. Unfortunately, current disparities can have lifelong consequences.

There are some instances where early intervention can mean a child will be more likely to be accurately diagnosed with a rare disease without having to experience symptoms like speech impairment or developmental delays. If left undiagnosed, with treatments delayed until after symptoms appear, some diseases can cause irreparable damage. Many children with rare disorders can and should thrive, but they need proper care to reach their full potential, and parents need to know that as early as possible.

Early detection

Newborn diagnostic screening is a vital preventative health-care measure that allows for the early detection of various congenital disorders and genetic conditions. The impact of early detection cannot be overstated – it can prevent irreversible damage, mitigate the severity of conditions, and even save lives.

By collecting and analyzing a small sample of blood, we can identify potential health risks, allowing for timely intervention and management. Yet, due to the fragmented nature of screening practices across Canada, not every child receives the same testing.

Every child in Canada should have equal access to comprehensive medical care from the very beginning, setting them on a path towards a healthy life.

Universal health care means that every child, regardless of their geographic location, deserves an equal chance at a healthy start in life. Provinces and territories must address these disparities to safeguard our children and ensure the integrity and inclusivity of our healthcare system.

A concerted effort is required from policymakers, health-care professionals, and the broader health community. Earlier this year, the federal government announced funding for the national rare disease strategy, which included resources provinces can use for newborn screening. It is crucial for provincial governments to utilize these federal resources to prioritize the standardization and expansion of newborn medical screening. Doing so would ensure that the same range of tests are available to every child, regardless of their province of birth.

During the recent provincial election in Alberta, the government committed to studying an expansion of their newborn screening program to include five more tests. Other provinces should not wait for an election to do the same.

Newborn screening is a simple yet powerful tool that can significantly impact a child’s future. By implementing a uniform approach nationwide, we can ensure that no child falls through the cracks due to the circumstances of their birth. It’s time for all provinces and territories to prioritize the standardization and expansion of newborn screening protocols.