Genetics in medicine : official journal of the American College of Medical Genetics · 2026
Evidence-based multidisciplinary model of care for newborn screening in spinal muscular atrophy.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Kariyawasam Didu S, Meagher C E, Kay A, Cairns A, Siu C, Wedlake C, Lau C, Miller C, Clark D, Webster D, Mas E, Yiu E M, Tolich F, Moore F, Crisp G, O'Grady G, Sampaio H, Pitt J, Cini J, Bhattacharya K, Greed L, Burrows L, Kava M, De Hora M, Greenslade M, Heather N, Heller R, Allcock R, Greaves R, Divanisova S, Carrivick S, Wotton T, Ware T, Wilgen U, Wiley V, Farrar M A
Аннотация
PURPOSE: Newborn screening for spinal muscular atrophy provides expedient access to diagnosis and treatment to transform health outcomes. However, because of a lack of high-quality practice standards and inequitable care and support access, health outcomes for affected children vary substantially. The study's purpose was to develop evidence and consensus-based recommendations to optimize and standardize clinical pathways.
METHODS: A total of 35 experts prepared systematic reviews and formulated recommendations using a modified Delphi process. Recommendations were developed for screening, diagnostic, and clinical domains, alongside guidelines to inform the content and quality of information provision and genetic counseling for families.
RESULTS: The study generated 25 best practice recommendations. These encompassed pathways to expedite time to diagnosis and treatment through collaboration and coordination between health care services, standardization of screening and diagnostic methodologies, and equitable provision and timely access to specialist care and support.
CONCLUSION: The study informs best practice within a new diagnostic and therapeutic era for spinal muscular atrophy by providing an evidence-based translational framework to improve the health and well-being of affected children. As implementation of these public health programs accelerate globally, this study provides health care professionals and policy makers with a template to develop feasible and equitable newborn screening programs for spinal muscular atrophy.
METHODS: A total of 35 experts prepared systematic reviews and formulated recommendations using a modified Delphi process. Recommendations were developed for screening, diagnostic, and clinical domains, alongside guidelines to inform the content and quality of information provision and genetic counseling for families.
RESULTS: The study generated 25 best practice recommendations. These encompassed pathways to expedite time to diagnosis and treatment through collaboration and coordination between health care services, standardization of screening and diagnostic methodologies, and equitable provision and timely access to specialist care and support.
CONCLUSION: The study informs best practice within a new diagnostic and therapeutic era for spinal muscular atrophy by providing an evidence-based translational framework to improve the health and well-being of affected children. As implementation of these public health programs accelerate globally, this study provides health care professionals and policy makers with a template to develop feasible and equitable newborn screening programs for spinal muscular atrophy.