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Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide
Allysa M Kuypers1, Marelle J Bouva2, J Gerard Loeber3
1Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
International Journal of Neonatal Screening
|December 27, 2024
Summary
Newborn screening for tyrosinemia type 1 (TT1) varies globally. Optimizing biomarker use and cut-off values can improve accuracy and reduce false positives in TT1 newborn screening programs.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Newborn screening (NBS) for tyrosinemia type 1 (TT1) in The Netherlands uses dried blood spot (DBS) succinylacetone (SUAC).
- Current Dutch NBS protocol for TT1 exhibits suboptimal performance with high false-positive rates and a false-negative case.
- Global variations in NBS protocols necessitate an evaluation of international practices for potential optimization.
Purpose of the Study:
- To assess and compare international NBS protocols for TT1.
- To identify areas for improvement in TT1 NBS, including biomarker selection and analytical methods.
- To inform strategies for enhancing the accuracy and efficiency of TT1 newborn screening.
Main Methods:
- An online survey was distributed to 41 NBS program representatives worldwide.
- Survey data focused on program organization, performance, biomarkers used (DBS SUAC, Tyrosine, or Tyr + SUAC), cut-off values, and reported outcomes.
- Responses from 33 representatives were analyzed to compare global TT1 NBS practices.
Main Results:
- TT1 incidence varies significantly across surveyed countries.
- DBS SUAC is the most common biomarker (78.9%), followed by DBS Tyrosine + SUAC (15.8%).
- Positive predictive values differ: 27.3% for SUAC, 1.2% for Tyrosine, and 90.1% for Tyrosine + SUAC.
Conclusions:
- Significant global variation exists in TT1 NBS methods, biomarkers, and cut-off values.
- Standardization of methods, adaptation of cut-off values, and integration of new biomarkers can enhance TT1 NBS.
- Post-analytical tools offer further potential for improving TT1 newborn screening outcomes.
