Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected families, rare disorders frequently, if untreated, result in a low quality of life, disability and even premature death. Newborn screening (NBS) has the potential to detect a number of rare conditions in asymptomatic children, providing the possibility of early treatment and a significantly improved long-term outcome. Despite these clear benefits, the availability and conduct of NBS programmes varies considerably across Europe and, with the increasing potential of genomic testing, it is likely that these differences may become even more pronounced. To help improve the equity of provision of NBS and ensure that all children can be offered high-quality screening regardless of race, nationality and socio-economic status, a technical meeting, endorsed by the Slovenian Presidency of the Council of the European Union, was held in October 2021. In this article, we present experiences from individual EU countries, stakeholder initiatives and the meeting's final conclusions, which can help countries attempting to establish new NBS programmes or expand existing provision.

Center for Inherited Metabolic Diseases Karolinska University Hospital SE 171 76 Stockholm Sweden

Centre for Population Research National Institute for Public Health and the Environment 3720 BA Bilthoven The Netherlands

Department of Biochemistry and Molecular Biology Groupement Hospitalier Est Hospices Civils de Lyon 59 Boulevard Pinel CEDEX 69677 Bron France

Department of Endocrinology Diabetes and Metabolic Diseases University Children's Hospital University Medical Centre Ljubljana Bohoričeva ulica 20 SI 1000 Ljubljana Slovenia

Department of Experimental and Clinical Biomedical Sciences University of Florence 50139 Florence Italy

Department of Molecular Medicine and Surgery Karolinska Institutet SE 171 76 Stockholm Sweden

Department of Pediatrics and Inherited Metabolic Disorders Charles University 1st Faculty of Medicine 12808 Prague Czech Republic

Division of Child Neurology and Metabolic Medicine Center for Child and Adolescent Medicine Heidelberg University Hospital Im Neuenheimer Feld 430 69120 Heidelberg Germany

EURORDIS Rare Diseases Europe 75014 Paris France

Faculty of Medicine University of Ljubljana Vrazov trg 2 SI 1000 Ljubljana Slovenia

General University Hospital Prague Ke Karlovu 2 12808 Prague Czech Republic

International Patient Organisation for Primary Immunodeficiencies Downderry Cornwall PL11 3LY UK

Laboratory for Pediatric Immunology Department of Pediatrics Willem Alexander Children's Hospital Leiden University Medical Center Albinusdreef 2 2333 ZA Leiden The Netherlands

Newborn Screening Clinical Chemistry and Pharmacology Lab Meyer Children's University Hospital 50139 Florence Italy

Office of the International Society for Neonatal Screening Reigerskamp 273 3607 HP Maarssen The Netherlands

Regional Coordinating Center for Rare Diseases European Reference Network for Hereditary Metabolic Diseases Udine University Hospital Piazzale Santa Maria della Misericordia 15 33100 Udine Italy

Sheffield Children's NHS Foundation Trust Western Bank Sheffield S10 2TH UK

References provided by Crossref.org