Â鶹´«Ã½Ó³»­

Â鶹´«Ã½Ó³»­

Explore the latest content from across our publications
Join The Â鶹´«Ã½Ó³»­

Log In

Forgot Password?
Create New Account

Loading... please wait

Abstract Details

Variability in newborn screening across Canada: spinal muscular atrophy and beyond
Health Care Disparities
P4 - Poster Session 4 (8:00 AM-9:00 AM)
4-002
To determine whether important differences exist in newborn screening (NBS) programs across Canadian provinces and territories. Given that spinal muscular atrophy (SMA) is the most recent disease added to NBS programs, we hypothesized that its inclusion would show interprovincial variability and be more likely in provinces already screening for a greater number of diseases.
NBS identifies infants with severe or potentially fatal diseases, enabling early diagnosis and treatment. In Canada, decisions regarding disease inclusion in NBS programs occur at the provincial level, which may lead to variability and inequity of patient screening and care.
We conducted a cross-sectional survey of all NBS labs in Canada to understand: 1) what conditions were currently included in their program; 2) what genetic-based testing was performed and; 3) if SMA was included.
All NBS programs (N=8) responded to this survey by June 2022. There was a 2.5-fold difference (N=14 vs N=36) in the total number of conditions screened between provinces, and a 9-fold difference (N=1 vs N=9) in the number of conditions screened by gene-based testing. Only nine conditions were common to all provincial NBS programs. NBS for SMA is currently only performed in four provinces which are also the four provinces with the largest number of conditions in their NBS programs. Currently, 60% of Canadian newborns are screened for SMA at birth (relative to 98% of American newborns) and benefit from early or pre-symptomatic diagnosis and treatment initiation.
Although healthcare in Canada is universal, its decentralization gives rise to important regional differences. Variability in provincial NBS programs creates inequity in age of diagnosis and initiation of disease-modifying treatments, which can affect potential long-term neurodevelopmental outcomes of affected children. Canadian provinces must work to standardize NBS panels across the country.
Authors/Disclosures
Emilie Groulx-Boivin, MD
PRESENTER 		The institution of Dr. Groulx-Boivin has received research support from Muscular Dystrophy Canada.
No disclosure on file
No disclosure on file
No disclosure on file
Maryam Oskoui, MD, FÂ鶹´«Ã½Ó³»­ (Montreal Children's Hospital - McGill University Health Centre) The institution of Dr. Oskoui has received research support from Hoffmann-La Roche Ltd. The institution of Dr. Oskoui has received research support from Muscular Dystrophy Canada. The institution of Dr. Oskoui has received research support from Canadian Institutes of Health Research. The institution of Dr. Oskoui has received research support from Santhera. The institution of Dr. Oskoui has received research support from Novartis. The institution of Dr. Oskoui has received research support from Fonds de Recherche du Québec. The institution of Dr. Oskoui has received research support from Biogen.
Kathy Selby, MD (U of BC Childrens Hospital) The institution of Dr. Selby has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. The institution of Dr. Selby has received research support from Biogen . The institution of Dr. Selby has received research support from Italfarmico. The institution of Dr. Selby has received research support from Reverogen.
No disclosure on file
No disclosure on file
Hugh J. McMillan, MD (Children's Hospital of Eastern Ontario) Dr. McMillan has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis Gene Therapies. Dr. McMillan has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. McMillan has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Â鶹´«Ã½Ó³»­. Dr. McMillan has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Muscle & Nerve.