Variability in newborn screening across Canada: spinal muscular atrophy and beyond (P4-9.002)

Abstract

<h3>Objective:</h3> 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. <h3>Background:</h3> 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. <h3>Design/Methods:</h3> 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. <h3>Results:</h3> 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. <h3>Conclusions:</h3> 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. <b>Disclosure:</b> The institution of Miss Groulx-Boivin has received research support from Muscular Dystrophy Canada. Dr. Osman has nothing to disclose. Pranesh Chakraborty has nothing to disclose. Ms. Lintern has nothing to disclose. Dr. Oskoui has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for the Association des Neurologues du Quebec. The institution of Dr. Oskoui has received research support from Biogen. The institution of Dr. Oskoui has received research support from Roche Genetech. 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. Dr. Oskoui has received personal compensation in the range of $50,000-$99,999 for serving as a Methodologist with American Academy of Neurology. Dr. Oskoui has a non-compensated relationship as a Member of the Medical and Scientific Advisory Committee with Muscular Dystrophy Canada that is relevant to AAN interests or activities. 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. The institution of Dr. Van Caeseele has received research support from Muscular Dystrophy Canada. Ms. Wyatt has nothing to disclose. 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 on a Speakers Bureau for Novartis Gene Therapies. The institution of Dr. McMillan has received research support from Roche.