{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T18:00:09Z","timestamp":1769104809970,"version":"3.49.0"},"reference-count":23,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T00:00:00Z","timestamp":1678320000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:sec id=\"S0317167123000343_as1\"><jats:title>Background:<\/jats:title><jats:p>Newborn screening (NBS) identifies infants with severe, early-onset diseases, enabling early diagnosis and treatment. In Canada, decisions regarding disease inclusion in NBS programs occur at the provincial level, which leads to variability in patient care. We aimed to determine whether important differences exist in NBS programs across 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.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167123000343_as2\"><jats:title>Methods:<\/jats:title><jats:p>We conducted a cross-sectional survey of all NBS labs in Canada to understand: 1) what conditions were included in their program; 2) what genetic-based testing was performed and; 3) if SMA was included.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167123000343_as3\"><jats:title>Results:<\/jats:title><jats:p>All NBS programs (<jats:italic>N<\/jats:italic> = 8) responded to this survey by June 2022. There was a 2.5-fold difference in the number of conditions screened (<jats:italic>N<\/jats:italic> = 14 vs <jats:italic>N<\/jats:italic> = 36) and a 9-fold difference in the number of conditions screened by gene-based testing. Only nine conditions were common to all provincial NBS programs. NBS for SMA was performed in four provinces at the time of our survey, with BC recently becoming the fifth province to add SMA to their NBS on October 1, 2022. Currently, 72% of Canadian newborns are screened for SMA at birth.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167123000343_as4\"><jats:title>Conclusion:<\/jats:title><jats:p>Although healthcare in Canada is universal, its decentralization gives rise to regional differences in NBS programs which creates inequity in the treatment, care, and potential outcomes\u00a0of affected children across provincial jurisdictions.<\/jats:p><\/jats:sec>","DOI":"10.1017\/cjn.2023.34","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T11:48:17Z","timestamp":1678362497000},"page":"203-209","source":"Crossref","is-referenced-by-count":12,"title":["Variability in Newborn Screening Across Canada: Spinal Muscular Atrophy and Beyond"],"prefix":"10.1017","volume":"51","author":[{"given":"Emilie","family":"Groulx-Boivin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Homira","family":"Osman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pranesh","family":"Chakraborty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stacey","family":"Lintern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1042-0108","authenticated-orcid":false,"given":"Maryam","family":"Oskoui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn","family":"Selby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Van Caeseele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Wyatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8927-2018","authenticated-orcid":false,"given":"Hugh J.","family":"McMillan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2023,3,9]]},"reference":[{"key":"S0317167123000343_ref13","doi-asserted-by":"publisher","DOI":"10.25318\/1710005901-eng"},{"key":"S0317167123000343_ref10","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-2633I"},{"key":"S0317167123000343_ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.03.007"},{"key":"S0317167123000343_ref20","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0673-0"},{"key":"S0317167123000343_ref22","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2021-326344"},{"key":"S0317167123000343_ref23","unstructured":"23. ChartMap. https:\/\/www.mapchart.net\/canada.html [Accessed 5 January 2023]"},{"key":"S0317167123000343_ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2015.06.002"},{"key":"S0317167123000343_ref1","doi-asserted-by":"crossref","first-page":"317","DOI":"10.2471\/BLT.07.050112","article-title":"Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years","volume":"86","author":"Andermann","year":"2008","journal-title":"Bull World Health Organ"},{"key":"S0317167123000343_ref12","unstructured":"12. RUSP Update May 2022. https:\/\/www.hrsa.gov\/sites\/default\/files\/hrsa\/advisory-committees\/heritable-disorders\/rusp\/previous-nominations\/summary-of-nominated-conditions-may-2022.pdf [Accessed 15 July 2022]"},{"key":"S0317167123000343_ref6","article-title":"Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial","author":"Strauss","year":"2022","journal-title":"Nat Med"},{"key":"S0317167123000343_ref3","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"S0317167123000343_ref8","doi-asserted-by":"crossref","first-page":"1636","DOI":"10.1212\/WNL.98.18_supplement.1636","article-title":"RAINBOWFISH: preliminary efficacy and safety data in risdiplam-treated infants with presymptomatic SMA (P17-5.003)","volume":"98","author":"Finkel","year":"2022","journal-title":"Neurology"},{"key":"S0317167123000343_ref16","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25101"},{"key":"S0317167123000343_ref17","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000741"},{"key":"S0317167123000343_ref2","doi-asserted-by":"crossref","first-page":"100878","DOI":"10.1016\/j.spen.2021.100878","article-title":"Spinal muscular atrophy","volume":"37","author":"Nicolau","journal-title":"Semin Pediatr Neurol"},{"key":"S0317167123000343_ref11","unstructured":"11. Recommended Uniform Screening Panel. https:www.hrsa.gov\/advisory-committees\/heritable-disorders\/rus\/index.html [Accessed 15 July 2022]"},{"key":"S0317167123000343_ref19","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7030033"},{"key":"S0317167123000343_ref5","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study","volume":"29","author":"De Vivo","journal-title":"Neuromuscul Disord"},{"key":"S0317167123000343_ref18","unstructured":"18. Cure SMA. Newborn screening for SMA report. 2022. https:\/\/www.curesma.org\/newborn-screening-for-sma\/?adlt=strict [Accessed 5 January 2023]"},{"key":"S0317167123000343_ref21","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.15286"},{"key":"S0317167123000343_ref4","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.jpeds.2020.07.033","article-title":"Cost-effectiveness of nusinersen and universal newborn screening for spinal muscular atrophy","volume":"227","author":"Jalali","year":"2020","journal-title":"J. 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