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Regulatory landscape of providing information on newborn screening to parents across Europe

2020-10-10Journal article Restricted access
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dc.contributor.authorFranková, Věra
dc.contributor.authorDriscoll, Riona O.
dc.contributor.authorJansen, Marleen E.
dc.contributor.authorLoeber, J. Gerard
dc.contributor.authorKožich, Viktor
dc.contributor.authorBonham, James
dc.contributor.authorBorde, Patricia
dc.contributor.authorBrincat, Ian
dc.contributor.authorCheillan, David
dc.contributor.authorDekkers, Eugenie
dc.contributor.authorFingerhut, Ralph
dc.contributor.authorKuš, Iva Bilandžija
dc.contributor.authorGirginoudis, Panagiotis
dc.contributor.authorGroselj, Urh
dc.contributor.authorHougaard, David
dc.contributor.authorKnapková, Mária
dc.contributor.authorla Marca, Giancarlo
dc.contributor.authorMalniece, Ieva
dc.contributor.authorNanu, Michaela Iuliana
dc.contributor.authorNennstiel, Uta
dc.contributor.authorOlkhovych, Nataliia
dc.contributor.authorOltarzewski, Mariusz
dc.contributor.authorPettersen, Rolf D.
dc.contributor.authorRacz, Gabor
dc.contributor.authorReinson, Karit
dc.contributor.authorSalimbayeva, Damilya
dc.contributor.authorSongailiene, Jurgita
dc.contributor.authorVilarinho, Laura
dc.contributor.authorVogazianos, Marios
dc.contributor.authorZetterström, Rolf H.
dc.contributor.authorZeyda, Maximilian
dc.contributor.authorMembers of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee
dc.date.accessioned2021-04-07T16:03:23Z
dc.date.available2021-04-07T16:03:23Z
dc.date.issued2020-10-10
dc.description.abstractNewborn screening (NBS) is an important part of public healthcare systems in many countries. The provision of information to parents about NBS is now recognised as an integral part of the screening process. Informing parents on all aspects of screening helps to achieve the benefits, promote trust and foster support for NBS. Therefore, policies and guidelines should exist to govern how the information about NBS is provided to parents, taking into account evidence-based best practices. The purpose of our survey was to explore whether any legally binding provisions, guidelines or recommendations existed pertaining to the provision of information about NBS to parents across Europe. Questions were designed to determine the regulatory process of when, by whom and how parents should be informed about screening. Twenty-seven countries participated in the survey. The results indicated that most countries had some sort of legal framework or guidelines for the provision of information to parents. However, only 37% indicated that the provision of information was required prenatally. The majority of countries were verbally informing parents with the aid of written materials postnatally, just prior to sample collection. Information was provided by a neonatologist, midwife or nurse. A website dedicated to NBS was available for 67% of countries and 89% had written materials about NBS for parents. The survey showed that there is a lack of harmonisation among European countries in the provision of information about NBS and emphasised the need for more comprehensive guidelines at the European level.pt_PT
dc.description.sponsorshipInstitutional support was provided by projects LM2018132 from the Large Infrastructure Projects of the Czech Ministry of Education, PROGRES Q26 from Charles University and RVO VFN 64165 from the Ministry of Health, Czech Republic. Several authors of this publication are members of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN)—Project ID No. 739543.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEur J Hum Genet. 2021 Jan;29(1):67-78. doi: 10.1038/s41431-020-00716-6. Epub 2020 Oct 10.pt_PT
dc.identifier.doi10.1038/s41431-020-00716-6pt_PT
dc.identifier.issn1018-4813
dc.identifier.urihttp://hdl.handle.net/10400.18/7657
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Nature/ European Society of Human Geneticspt_PT
dc.relation739543pt_PT
dc.relation.publisherversionhttps://www.nature.com/articles/s41431-020-00716-6pt_PT
dc.subjectNewborn Screeningpt_PT
dc.subjectEuropept_PT
dc.subjectGuidelinespt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleRegulatory landscape of providing information on newborn screening to parents across Europept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage78pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage67pt_PT
oaire.citation.titleEuropean Journal of Human Geneticspt_PT
oaire.citation.volume29pt_PT
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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