Towards Achieving Equity and Innovation in Newborn Screening across Europe
Abstract
:1. Introduction
2. An Overview of the Current State of NBS in the EU
3. Best Practice Models and Their Distribution
3.1. Italy
- Law mandate for NBS
- NBS infrastructure reorganization
- Same-day, second-tier testing results
3.2. France
- NBS mandated by law
- Clear hierarchical structure of advisory organs to the Ministry of Health
3.3. Slovenia
- Confirmatory testing with next generation sequencing
- Nationwide IT system for NBS
3.4. Germany
- Evaluation of feasibility of NBS extensions with pilot studies
- Long-term observational studies of children with inherited metabolic diseases
- National cohorts for individual metabolic diseases
3.5. Sweden
- National biobank for dried blood spots storage
- National registry for inborn errors of metabolism for prospective management of patients
3.6. Czech Republic
- NBS extension preceded by a pilot programme
- Determination of population-specific cut-offs
- Cost-effectiveness analyses prior to implementation
3.7. Southeastern Europe—An Underdeveloped Region
- Generally underdeveloped NBS programmes compared to Western countries
- No NBS programmes in two countries in 2020
4. Roles of Key Stakeholders
4.1. Screen4Rare
4.2. The Views of People Living with Rare Diseases and Their Families: 11 Key Principles
4.3. European Reference Networks
5. Policy-Oriented Multi-Stakeholder Expert Advisory Committee
6. Key Points and Future Challenges
7. Urgent Initiatives
- (i)
- The formation of an NBS-EAC free from bias or national interests to provide trusted, high-quality information to support decision making at a national level;
- (ii)
- The need to progress specific work streams related to the documentation, identification and promotion of good practice in existing national NBS programmes so that these lessons may be shared more widely including through the Non-Communicable Diseases Group (SGPP) advising the EC;
- (iii)
- The need to collect, collate and develop key performance indicators that might help maintain and improve the quality of NBS programmes;
- (iv)
- The establishment of accepted ‘Case Definitions’ for the disorders currently screened and those under consideration;
- (v)
- The promotion of interoperable disease registries as a means to gather and understand outcomes to guide NBS strategy;
- (vi)
- The need for outputs from national pilot programmes in NBS to be shared more effectively to shorten the time needed to introduce new screening programmes or cease their development where these may be shown to be inappropriate;
- (vii)
- The consolidation of a NBS group within the existing ERNs, both those with a current involvement in NBS such as MetabERN and ERN-RITA (the immune deficiency ERN), and in those who have responsibility for conditions where patients may benefit from the early asymptomatic detection offered by NBS in the near future;
- (viii)
- The need for special consideration to be given to the rapid development of genomics to greatly alter the potential for diagnosis at birth and the ethical challenges and clinical opportunities that this brings.
8. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
EC | European Commission |
ERN | European Reference Network |
ERN-RITA | European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases |
IPOPI | International Patient Organization for Primary Immunodeficiencies |
ISNS | International Society of Neonatal Screening |
MetabERN | European Reference Network for Hereditary Metabolic Disorders |
MS/MS | tandem mass spectrometry |
NBS | newborn/neonatal screening |
NBS-EAC | NBS expert advisory committee |
SGPP | Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases |
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Sikonja, J.; Groselj, U.; Scarpa, M.; la Marca, G.; Cheillan, D.; Kölker, S.; Zetterström, R.H.; Kožich, V.; Le Cam, Y.; Gumus, G.; et al. Towards Achieving Equity and Innovation in Newborn Screening across Europe. Int. J. Neonatal Screen. 2022, 8, 31. https://doi.org/10.3390/ijns8020031
Sikonja J, Groselj U, Scarpa M, la Marca G, Cheillan D, Kölker S, Zetterström RH, Kožich V, Le Cam Y, Gumus G, et al. Towards Achieving Equity and Innovation in Newborn Screening across Europe. International Journal of Neonatal Screening. 2022; 8(2):31. https://doi.org/10.3390/ijns8020031
Chicago/Turabian StyleSikonja, Jaka, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, and et al. 2022. "Towards Achieving Equity and Innovation in Newborn Screening across Europe" International Journal of Neonatal Screening 8, no. 2: 31. https://doi.org/10.3390/ijns8020031