The implementation of newborn screening for spinal muscular atrophy: the Australian experience |
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| Institution: | 1. Department of NeurologySydney Children’s Hospital, Randwick Sydney NSW Australia;2. School of Women’s and Children’s HealthUniversity of New South Wales Medicine, University of New South Wales Sydney NSW Australia;3. Department of GeneticsSydney Children’s Hospital, Randwick Sydney NSW Australia;4. NSW Newborn Screening Programme, Children’s Hospital Westmead Westmead NSW Australia;5. Faculty of Medicine and HealthUniversity of Sydney Sydney NSW Australia;6. Gene Therapy Research Unit, Children’s Medical Research Institute, Faculty of Medicine and HealthUniversity of Sydney and Sydney Children’s Hospital Network Sydney NSW Australia;7. Discipline of Child and Adolescent Health, Sydney Medical School, Faculty of Medicine and HealthUniversity of Sydney Sydney NSW Australia;1. Department of NeurologySydney Children’s Hospital, Randwick Sydney NSW Australia;2. School of Women’s and Children’s HealthUniversity of New South Wales Medicine, University of New South Wales Sydney NSW Australia;3. Department of GeneticsSydney Children’s Hospital, Randwick Sydney NSW Australia;4. NSW Newborn Screening Programme, Children’s Hospital Westmead Westmead NSW Australia;5. Faculty of Medicine and HealthUniversity of Sydney Sydney NSW Australia;6. Gene Therapy Research Unit, Children’s Medical Research Institute, Faculty of Medicine and HealthUniversity of Sydney and Sydney Children’s Hospital Network Sydney NSW Australia;7. Discipline of Child and Adolescent Health, Sydney Medical School, Faculty of Medicine and HealthUniversity of Sydney Sydney NSW Australia |
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| Abstract: | PurposeTo evaluate the implementation of the first statewide newborn screening (NBS) program for spinal muscular atrophy (SMA) in Australia. Processes that hinder and support clinical development, translation, and sustainability of the first primary genetic screening program in Australia are appraised.MethodsThe study prospectively describes the course (timelines, health processes, and preliminary clinical outcomes) for SMA screen-positive newborns from 1 August 2018 to 31 July 2019 in New South Wales and Australian Capital Territory, Australia.ResultsIn the first year of the program, 103,903 newborns were screened. Ten newborns screened positive for SMA. Genetic confirmation of SMA occurred in 9/10 (90%) of infants. Clinical signs of SMA evolved in 4/9 (44%) within 4 weeks of life, heralded by hypotonia and weakness initially recognized in the neck. Median time to implementing a care plan (including commencement of disease-modifying therapies) was 26.5 days (16–37 days) from birth.ConclusionNBS is essential for early and equitable identification of patients with SMA. Expedient diagnosis and management are vital, as disease latency appears brief in some cases. NBS shows significant clinical utility to support early parental decision making, improve access to specialist neuromuscular expertise, and facilitate initiation of personalized therapeutic strategies. |
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