Towards Achieving Equity and Innovation in Newborn Screening across Europe
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F22%3A10445195" target="_blank" >RIV/00064165:_____/22:10445195 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/22:10445195
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=h5bCn6ImNm" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=h5bCn6ImNm</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3390/ijns8020031" target="_blank" >10.3390/ijns8020031</a>
Alternative languages
Result language
angličtina
Original language name
Towards Achieving Equity and Innovation in Newborn Screening across Europe
Original language 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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30202 - Endocrinology and metabolism (including diabetes, hormones)
Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Neonatal Screening [online]
ISSN
2409-515X
e-ISSN
2409-515X
Volume of the periodical
8
Issue of the periodical within the volume
2
Country of publishing house
CH - SWITZERLAND
Number of pages
11
Pages from-to
31
UT code for WoS article
000817627600001
EID of the result in the Scopus database
2-s2.0-85130203168