Newborn screening for inherited metabolic disorders assessed by Spanish Avalia-T

In the middle of 2020, the Galician Scientific and Technical Advice Unit (Unidad de Asesoramiento Científico-técnico, Avalia-T) released a health technology assessment on the clinical effectiveness of newborn screening for inborn errors of metabolism by MS/MS that aimed to update the data collected in the pilot study.

A systematic literature review was conducted in the main biomedical databases: Medline, Embase, Cochrane Library, HTA, DARE, and INAHTA, among others. Two reviewers independently checked all the abstracts and selected full-text articles according to previously established inclusion criteria. The pilot study information was provided by the Screening Programmes Unit of the Ministry of Health, through data provided by the Autonomous Regions to the Neonatal Screening Programme Information System (SICN).

The following results were outlined by Avalia-T:

• The evidence on the effectiveness of the maple syrup urine disease (MSUD), isovaleric acidaemia (IVA) and homocystinuria (HCY) neonatal screening programs is of moderate-low quality and is based on observational studies, and pilot programs
• In MSUD screening, there is some variability in the biomarkers used (primary and secondary), the cut-off values, and the implementation of Aile as a second-tier, which has a significant impact on the test performance. The test performance is low, sensitivity is highly variable and depends on the protocol used
• The uniformity that exists in the screening algorithms for isovaleric acidemia, especially in secondary biomarkers and second tier, limits test performance
• In HCY screening, there is significant heterogeneity in the screening algorithms, especially in the use of secondary biomarkers. The test performance is low and shows no benefit in terms of reduced mortality
• The agreement must be reached on an adequate and specific screening protocol for each condition that optimizes the test performance and improves the comparability of the results, as well as standardizing the registry of the health status of the cases identified at the moment of diagnosis and the phenotype. It is recommended to define health indicators, optimum and acceptable levels of some process indicators.

All this information will help to measure the degree to which the objectives have been achieved, in the decision-making process.

The full details in Spanish can be found here.

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