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Evidence-based multidisciplinary model of care for newborn screening in spinal muscular atrophy
Didu S Kariyawasam1, C E Meagher2, A Kay3
1Department of Neurology, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.
Insights
Newborn screening for spinal muscular atrophy (SMA) can improve outcomes, but inconsistent care access hinders progress. This study provides 25 recommendations to standardize clinical pathways, ensuring equitable diagnosis and treatment for all affected infants.
Area of Science:
- Genetics
- Pediatrics
- Public Health
Background:
- Newborn screening for spinal muscular atrophy (SMA) offers early diagnosis and treatment.
- Inequitable access to care and lack of practice standards lead to variable health outcomes for infants with SMA.
- There is a critical need to optimize clinical pathways for SMA newborn screening.
Purpose of the Study:
- To develop evidence-based, consensus-driven recommendations for standardizing SMA newborn screening clinical pathways.
- To address inequities in care and support access for children diagnosed with SMA.
- To create a framework for optimizing health outcomes in the era of SMA newborn screening.
Main Methods:
- A modified Delphi process involving 35 experts.
- Systematic reviews to inform recommendation development.
- Formulation of recommendations across screening, diagnostic, and clinical domains, including information provision and genetic counseling.
Main Results:
- Generation of 25 best practice recommendations for SMA newborn screening.
- Recommendations focus on expediting diagnosis and treatment through inter-service collaboration.
- Emphasis on standardizing methodologies and ensuring equitable access to specialist care and support.
Conclusions:
- The study provides a translational framework for best practice in SMA newborn screening.
- These recommendations aim to improve health and well-being for children with SMA.
- Offers a template for developing feasible and equitable global newborn screening programs for SMA.
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.
