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The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
Melissa P Wasserstein1, Michele Caggana2, Sean M Bailey3
1Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, New York, USA. mwassers@montefiore.org.
Insights
A pilot newborn screening (NBS) for lysosomal storage disorders (LSDs) showed feasibility. The study primarily identified infants at risk for late-onset LSDs, informing evidence-based NBS practices.
Area of Science:
- Genetics and Genomics
- Public Health
- Biochemistry
Background:
- Lysosomal storage disorders (LSDs) are a group of rare genetic conditions.
- Newborn screening (NBS) programs aim to detect treatable disorders early.
- Assessing the suitability of LSDs for public health-mandated NBS is crucial.
Purpose of the Study:
- To evaluate the feasibility of a consented pilot newborn screening (NBS) for specific lysosomal storage disorders (LSDs).
- To determine the suitability of Pompe disease, Gaucher disease, Niemann-Pick A/B, Fabry disease, and MPS I for public health-mandated screening.
- To gather evidence for informed decision-making regarding NBS practices for LSDs.
Main Methods:
- A pilot NBS study was conducted across five ethnically diverse New York City hospitals.
- Postpartum parents provided verbal consent for screening their infants.
- Multiplexed tandem mass spectrometry was used for initial screening, followed by confirmatory enzymology, DNA testing, and biomarker analysis for screen-positive infants.
Main Results:
- Over four years, 65,605 infants participated with a 73% consent rate.
- Sixty-nine infants were identified as screen-positive.
- Twenty-three infants were confirmed positive for LSDs, all predicted to have late-onset phenotypes. Six cases remain undetermined.
Conclusions:
- Newborn screening for LSDs is more likely to identify individuals at risk for late-onset conditions.
- The study demonstrated the feasibility of a novel, consented pilot NBS design.
- This model can be adapted to evaluate other disorders for public health implementation, supporting evidence-based NBS.
Purpose:
We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann-Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage disorders (LSDs) for public health mandated screening.
Methods:
At five participating high-birth rate, ethnically diverse New York City hospitals, recruiters discussed the study with postpartum parents and documented verbal consent. Screening on consented samples was performed using multiplexed tandem mass spectrometry. Screen-positive infants underwent confirmatory enzymology, DNA testing, and biomarker quantitation when available. Affected infants are being followed for clinical management and long-term outcome.
Results:
Over 4 years, 65,605 infants participated, representing an overall consent rate of 73%. Sixty-nine infants were screen-positive. Twenty-three were confirmed true positives, all of whom were predicted to have late-onset phenotypes. Six of the 69 currently have undetermined disease status.
Conclusion:
Our results suggest that NBS for LSDs is much more likely to detect individuals at risk for late-onset disease, similar to results from other NBS programs. This work has demonstrated the feasibility of using a novel consented pilot NBS study design that can be modified to include other disorders under consideration for public health implementation as a means to gather critical evidence for evidence-based NBS practices.
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