What is at stake in genetic newborn screening for rare diseases? – An exploratory qualitative study of parents’ and expectant parents’ concerns in the Screen4Care project

Background: The diagnostic journey for rare diseases (RDs) often involves lengthy delays and significant burdens on patients and their family. Genetic newborn screening (NBS) for RDs offers a potential opportunity for early diagnosis and treatment. Aims: This study explores factors influe...

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Príomhchruthaitheoirí:	Sylvia Martin, Åsa Grauman, Joshua Coulter, Mats Hansson, Alessandra Ferlini, Fernanda Fortunato, Silvia Ottombrino, Roman Raming, Ferdinand Knieling, Felix Wachter, Christina Saier, Kathrin Freyler, Jorien Veldwijk
Formáid:	Artigo
Teanga:	Inglês
Foilsithe / Cruthaithe:	Karger Publishers 2026-07-01
Sraith:	Public Health Genomics
Rochtain ar líne:	https://karger.com/article/doi/10.1159/000553234
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