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Towards Achieving Equity and Innovation in Newborn Screening across Europe

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...

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Autores principales: Sikonja, Jaka, Groselj, Urh, Scarpa, Maurizio, la Marca, Giancarlo, Cheillan, David, Kölker, Stefan, Zetterström, Rolf H., Kožich, Viktor, Le Cam, Yann, Gumus, Gulcin, Bottarelli, Valentina, van der Burg, Mirjam, Dekkers, Eugenie, Battelino, Tadej, Prevot, Johan, Schielen, Peter C. J. I., Bonham, James R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149820/
https://www.ncbi.nlm.nih.gov/pubmed/35645285
http://dx.doi.org/10.3390/ijns8020031
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author Sikonja, Jaka
Groselj, Urh
Scarpa, Maurizio
la Marca, Giancarlo
Cheillan, David
Kölker, Stefan
Zetterström, Rolf H.
Kožich, Viktor
Le Cam, Yann
Gumus, Gulcin
Bottarelli, Valentina
van der Burg, Mirjam
Dekkers, Eugenie
Battelino, Tadej
Prevot, Johan
Schielen, Peter C. J. I.
Bonham, James R.
author_facet Sikonja, Jaka
Groselj, Urh
Scarpa, Maurizio
la Marca, Giancarlo
Cheillan, David
Kölker, Stefan
Zetterström, Rolf H.
Kožich, Viktor
Le Cam, Yann
Gumus, Gulcin
Bottarelli, Valentina
van der Burg, Mirjam
Dekkers, Eugenie
Battelino, Tadej
Prevot, Johan
Schielen, Peter C. J. I.
Bonham, James R.
author_sort Sikonja, Jaka
collection PubMed
description 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.
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spelling pubmed-91498202022-05-31 Towards Achieving Equity and Innovation in Newborn Screening across Europe Sikonja, Jaka Groselj, Urh Scarpa, Maurizio la Marca, Giancarlo Cheillan, David Kölker, Stefan Zetterström, Rolf H. Kožich, Viktor Le Cam, Yann Gumus, Gulcin Bottarelli, Valentina van der Burg, Mirjam Dekkers, Eugenie Battelino, Tadej Prevot, Johan Schielen, Peter C. J. I. Bonham, James R. Int J Neonatal Screen Review 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. MDPI 2022-05-06 /pmc/articles/PMC9149820/ /pubmed/35645285 http://dx.doi.org/10.3390/ijns8020031 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Sikonja, Jaka
Groselj, Urh
Scarpa, Maurizio
la Marca, Giancarlo
Cheillan, David
Kölker, Stefan
Zetterström, Rolf H.
Kožich, Viktor
Le Cam, Yann
Gumus, Gulcin
Bottarelli, Valentina
van der Burg, Mirjam
Dekkers, Eugenie
Battelino, Tadej
Prevot, Johan
Schielen, Peter C. J. I.
Bonham, James R.
Towards Achieving Equity and Innovation in Newborn Screening across Europe
title Towards Achieving Equity and Innovation in Newborn Screening across Europe
title_full Towards Achieving Equity and Innovation in Newborn Screening across Europe
title_fullStr Towards Achieving Equity and Innovation in Newborn Screening across Europe
title_full_unstemmed Towards Achieving Equity and Innovation in Newborn Screening across Europe
title_short Towards Achieving Equity and Innovation in Newborn Screening across Europe
title_sort towards achieving equity and innovation in newborn screening across europe
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149820/
https://www.ncbi.nlm.nih.gov/pubmed/35645285
http://dx.doi.org/10.3390/ijns8020031
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