Extended neonatal screening pilot project at UMF “Iuliu Hațieganu”
The University of Medicine and Pharmacy “Iuliu Hațieganu” of Cluj-Napoca, in partnership with Reykjavik University of Iceland and the National Alliance for Rare Diseases Romania, have developed, in 2023, in the framework of the Extended Neonatal Screening Pilot Project, the first laboratory dedicated to mass spectrometry-based neonatal screening in Romania, METABOMS. The laboratory is located in the building of the Research Centre for Advanced Medicine – MEDFUTURE of UMF “Iuliu Hațieganu”, and in July, it was equipped with a certified diagnostic mass spectrometer (IVD) for extended neonatal screening worth 380,000 euro, thus performing the first 92 test samples.
METABOMS is funded by the programme “Challenges in Public Health at European level” – EEA Financial Mechanism 2014-2021, with financial support from EEA and Norwegian Grants funded by Iceland, Liechtenstein and Norway, and the Ministry of Health Romania, through the project entitled “Improving access to preventive health services through the development of an analytical laboratory and a pilot neonatal screening programme for vulnerable groups, including Roma”, AP1.26/ Grant Contract no. AR19183/27.10.2022. Project budget: 958 298 euro.
The METABOMS project aims to increase access to preventive health services and facilitate equitable access to health care for vulnerable groups, including the Roma population, and to assess the incidence of inborn metabolic diseases in the target group studied. The tests carried out during the project implementation period (2023-2024) are offered free of charge to newborns in the project target group and aim to expand the number of inborn metabolic disorders that can be detected at birth and can permanently influence the child’s evolution if not intervened in time.
“Through such initiatives, UMFIH supports the community by providing a state-of-the-art infrastructure at the MEDFUTURE Research Centre for Advanced Medicine and a human resource, highly specialised in mass spectrometry, which has over the years shown exceptional results. The resources involved in the project will be used to develop an innovative health service for the benefit of the population, which is one of the essential components of our university’s mission“, said Prof. Dr. Anca Dana Buzoianu, Rector of UMF “Iuliu Hațieganu” Cluj-Napoca.
The implementation of this extended screening pilot project contributes to the development of a state-of-the-art analytical infrastructure based on mass spectrometry, capable of assessing in a single analysis the presence of specific metabolites for 32 inborn metabolic disorders – amino acid disorders, organic acid disorders, fatty acid oxidation disorders and urea cycle disorders. Training activities for laboratory staff will contribute to the training of specialists able to immediately implement this advanced testing technique should the extension of screening in the national programme be considered. Last but not least, the exchange of best practices and external validation from an accredited laboratory to the partner in Iceland can be a guarantee that the results generated by this laboratory are of the highest quality.
METABO is carried out at regional level, with the support of the Cluj County Emergency Hospital through the Regional Neonatal Screening Laboratory serving the counties: Cluj, Bihor, Harghita, Maramureș, Sălaj, Sibiu, Satu Mare. This pilot project is complementary to the National Neonatal Screening Programme funded by the Ministry of Health.
