Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022

Abstract Background Newborn screening (NBS) and its genetic version, genetic NBS (gNBS), are now used to identify a broad range of conditions, including metabolic, endocrine, and genetic disorders, leading to significant reductions in infant mortality and long-term complications. Advances in genomic...

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Principais autores:	Sylvia Martin, Gergana Kyosovska-Peshtenska, Jennifer Audi, Kaja Zarakowska, Åsa Grauman, Jorien Veldwijk, Brett Hauber, Joshua Coulter, Aileen Fürer, Alexandra Wagner, Aneta Piperkova, Edith Sky Gross, Ferdinand Knieling, Gulcin Gumus, Marek Zak, Maria Martinez-Fresno, Alicia Granados, Stefaan Sansen, Yuen Man, Janbernd Kirschner, Lucia Pia Bruno, Enrico Silvio Bertini, Silvia Ottombrino, Antonio Novelli, Emanuele Agolini, Sandra Courbier, Nicolas Garnier, Tsungai Jackson, Branimir Velinov, Jessie Dubief, Roman Raming, Christina Saier, Fernanda Fortunato, Vera Frankova, Mats Hansson
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2026-01-01
Series:	Orphanet Journal of Rare Diseases
Assuntos:	Genetic newborn screening Rare diseases Preferences Attitudes Parents Healthcare
Acceso en liña:	https://doi.org/10.1186/s13023-025-04179-0
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