The implementation of newborn screening for spinal muscular atrophy: the Australian experience

Didu S T Kariyawasam^{1

2}, Jacqueline S Russell³, Veronica Wiley^{4

5}, Ian E Alexander^{6

7}, Michelle A Farrar^{8

9}

Affiliations

¹ Department of Neurology, Sydney Children's Hospital, Randwick, Sydney, NSW, Australia. didu.kariyawasam@health.nsw.gov.au.
² School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, NSW, Australia. didu.kariyawasam@health.nsw.gov.au.
³ Department of Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW, Australia.
⁴ NSW Newborn Screening Programme, Children's Hospital Westmead, Westmead, NSW, Australia.
⁵ Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
⁶ Gene Therapy Research Unit, Children's Medical Research Institute, Faculty of Medicine and Health, University 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 Health, University of Sydney, Sydney, NSW, Australia.
⁸ Department of Neurology, Sydney Children's Hospital, Randwick, Sydney, NSW, Australia.
⁹ School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, NSW, Australia.

PMID: 31607747
DOI: 10.1038/s41436-019-0673-0

Free article

The implementation of newborn screening for spinal muscular atrophy: the Australian experience

Didu S T Kariyawasam et al. Genet Med. 2020 Mar.

Free article

. 2020 Mar;22(3):557-565.

doi: 10.1038/s41436-019-0673-0. Epub 2019 Oct 14.

Authors

Didu S T Kariyawasam^{1

2}, Jacqueline S Russell³, Veronica Wiley^{4

5}, Ian E Alexander^{6

7}, Michelle A Farrar^{8

9}

Affiliations

¹ Department of Neurology, Sydney Children's Hospital, Randwick, Sydney, NSW, Australia. didu.kariyawasam@health.nsw.gov.au.
² School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, NSW, Australia. didu.kariyawasam@health.nsw.gov.au.
³ Department of Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW, Australia.
⁴ NSW Newborn Screening Programme, Children's Hospital Westmead, Westmead, NSW, Australia.
⁵ Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
⁶ Gene Therapy Research Unit, Children's Medical Research Institute, Faculty of Medicine and Health, University 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 Health, University of Sydney, Sydney, NSW, Australia.
⁸ Department of Neurology, Sydney Children's Hospital, Randwick, Sydney, NSW, Australia.
⁹ School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, NSW, Australia.

PMID: 31607747
DOI: 10.1038/s41436-019-0673-0

Abstract

Purpose: To 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.

Methods: The 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.

Results: In 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.

Conclusion: NBS 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.

Keywords: implementation; newborn screening; presymptomatic; spinal muscular atrophy; translation.

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References

1. Kariyawasam D, Carey KA, Jones KJ, Farrar MA. New and developing therapies in spinal muscular atrophy. Paediatr Respir Rev. 2018;28:3–10. - PubMed
1. Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377:1723–1732. - DOI
1. Lowes LP, Alfano LN, Arnold WD, et al. Impact of age and motor function in a phase 1/2A study of infants with SMA type 1 receiving single-dose gene replacement therapy. Paediatr Neurol. 2019;98:39–45. - DOI
1. Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med. 2018;378:625–635. - DOI
1. Messina S, Pane M, Sansone V, et al. Expanded access program with nusinersen in SMA type I in Italy: strengths and pitfalls of a successful experience. Neuromuscul Disord. 2017;27:1084–1086. - DOI

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The implementation of newborn screening for spinal muscular atrophy: the Australian experience

Affiliations

The implementation of newborn screening for spinal muscular atrophy: the Australian experience

Authors

Affiliations

Abstract

References

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Miscellaneous