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Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme
Arlene M D'Silva1,2, Didu S T Kariyawasam1,2, Stephanie Best3,4
1Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
Insights
Newborn bloodspot screening (NBS) for spinal muscular atrophy (SMA) in Australia successfully identified 21 infants. This pilot program demonstrates NBS is crucial for early SMA detection and effective clinical implementation.
Area of Science:
- Genetics and Genetic Diseases
- Newborn Screening Programs
- Public Health Initiatives
Background:
- Spinal muscular atrophy (SMA) is a severe genetic disorder affecting motor neurons.
- Early detection and intervention are critical for improving outcomes in SMA patients.
- The implementation of newborn bloodspot screening (NBS) for SMA presents unique challenges.
Purpose of the Study:
- To dynamically design, evaluate, and implement an Australian NBS pilot program for SMA.
- To measure the performance of the SMA NBS test protocol.
- To identify and overcome laboratory and clinical barriers to SMA NBS implementation.
Main Methods:
- An implementation-effectiveness study design was employed over a 2-year pilot period.
- Continuous interdisciplinary review was used to assess protocol performance and barriers.
- Screening data from 252,081 newborn infants were analyzed.
Main Results:
- The NBS pilot program screened 252,081 infants, identifying 21 with SMA.
- The SMA NBS protocol demonstrated high accuracy: 100% sensitivity, >99.9% specificity, and 0% false negatives.
- Early clinical signs were observed in 6 of 21 screen-positive infants within 4 weeks of life.
Conclusions:
- Newborn bloodspot screening is essential for the early identification of infants at risk for SMA.
- The pilot program successfully translated SMA NBS into clinical practice.
- Multidisciplinary collaboration and strong partnerships were key to successful implementation.
Aim:
This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA).
Method:
We used an implementation-effectiveness study design and continuous interdisciplinary review to measure SMA NBS test protocol performance, identify and overcome laboratory and clinical barriers to implementation, and describe progress during the 2-year pilot study.
Results:
The NBS programme screened 252 081 newborn infants from 1st August 2018 to 31st January 2021. Using an NBS pilot test protocol, 21 infants were diagnostically confirmed with SMA. The NBS pilot test protocol had a sensitivity of 100%, specificity greater than 99.9%, false-positive rate less than 0.001%, a false-negative rate of 0%, and positive predictive value of 95.5%. A severe phenotype was predicted on the basis of two copies of SMN2 in 57.2% of newborn infants screening positive for SMA. Clinical signs consistent with SMA were evident in 6 out of 21 screen-positive newborn infants within the first 4 weeks of life. A multidisciplinary team establishing strong partnerships across clinical and laboratory staff was key to implementation.
Interpretation:
This pilot programme suggests that NBS is essential for early identification of newborn infants at risk of SMA and can be effectively translated into clinical practice.
