Sara Colja Bele, Analyst in Laboratory Medicine from the University Medical Centre Ljubljana, Slovenia, had the opportunity to participate in the MetabERN Exchange Programme and visited the Oslo University Hospital in Norway, from 12 to 24 April 2026. The visit was organised in collaboration with Dr Trine Tangeraas, MetabERN representative in the Oslo University Hospital and focused on newborn screening.

What were the objectives of the visit?

The main objective of the visit was to gain practical and research-relevant expertise in newborn screening for metachromatic leukodystrophy (MLD) at the Norwegian newborn screening centre, which is currently the only programme performing population-level screening for this disorder. The objective of the visit was not only to acquire technical knowledge, but also to understand how a complex, multi-tier screening method is successfully implemented in a high-throughput, population-based setting. The experience provided a solid foundation for evaluating, adapting and potentially implementing MLD newborn screening within the Slovenian healthcare system.

What were the outcomes?

During the exchange, the visitor has gained a comprehensive set of insights spanning analytical, methodological and organisational aspects of newborn screening, with a particular focus on metachromatic leukodystrophy (MLD).

One of the most important insights, the visitor reported, was the practical application of the multi-tier screening strategy. The visitor developed a clear understanding of how first-tier biochemical screening, second-tier enzymatic testing, and third-tier genetic confirmation are integrated into a robust diagnostic workflow.

Overall, the exchange provided a detailed and practical understanding of how a highly specialised newborn screening method is implemented in a real-world setting. These learnings are directly applicable to the evaluation and potential implementation of MLD screening in Slovenia and will contribute to both research and clinical contexts.

“I consider the exchange to be extremely successful and highly relevant to my doctoral research and future professional development. The knowledge and experience gained will have a direct impact on my work and will support further development of newborn screening strategies in Slovenia. The visit exceeded my expectations in terms of both educational value and professional growth. It provided not only specific technical expertise, but also a deeper appreciation of how high-quality screening programmes are designed, implemented and continuously improved.“

Sara Colja Bele, Analyst in Laboratory Medicine