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

Didu S T KariyawasamJacqueline S RussellVeronica WileyIan E AlexanderMichelle A Farrar
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
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.
Keyphrases
  • decision making
  • primary care
  • healthcare
  • palliative care
  • quality improvement