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

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

Open source

DOI: 10.1186/s13023-025-04179-0
Published: 2026-01-08
Container: Orphanet Journal of Rare Diseases
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1186/s13023-025-04179-0,
  title = {Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022},
  author = {Sylvia Martin and Gergana Kyosovska-Peshtenska and Jennifer Audi and Kaja Zarakowska and Åsa Grauman and Jorien Veldwijk and Brett Hauber and Joshua Coulter and Aileen Fürer and Alexandra Wagner and Aneta Piperkova and Edith Sky Gross and Ferdinand Knieling and Gulcin Gumus and Marek Zak and Maria Martinez-Fresno and Alicia Granados and Stefaan Sansen and Yuen Man and Janbernd Kirschner and Lucia Pia Bruno and Enrico Silvio Bertini and Silvia Ottombrino and Antonio Novelli and Emanuele Agolini and Sandra Courbier and Nicolas Garnier and Tsungai Jackson and Branimir Velinov and Jessie Dubief and Roman Raming and Christina Saier and Fernanda Fortunato and Vera Frankova and Mats Hansson},
  year = {2026},
  journal = {Orphanet Journal of Rare Diseases},
  doi = {10.1186/s13023-025-04179-0},
  url = {https://doi.org/10.1186/s13023-025-04179-0}
}

RIS

TY  - JOUR
TI  - Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022
AU  - Sylvia Martin
AU  - Gergana Kyosovska-Peshtenska
AU  - Jennifer Audi
AU  - Kaja Zarakowska
AU  - Åsa Grauman
AU  - Jorien Veldwijk
AU  - Brett Hauber
AU  - Joshua Coulter
AU  - Aileen Fürer
AU  - Alexandra Wagner
AU  - Aneta Piperkova
AU  - Edith Sky Gross
AU  - Ferdinand Knieling
AU  - Gulcin Gumus
AU  - Marek Zak
AU  - Maria Martinez-Fresno
AU  - Alicia Granados
AU  - Stefaan Sansen
AU  - Yuen Man
AU  - Janbernd Kirschner
AU  - Lucia Pia Bruno
AU  - Enrico Silvio Bertini
AU  - Silvia Ottombrino
AU  - Antonio Novelli
AU  - Emanuele Agolini
AU  - Sandra Courbier
AU  - Nicolas Garnier
AU  - Tsungai Jackson
AU  - Branimir Velinov
AU  - Jessie Dubief
AU  - Roman Raming
AU  - Christina Saier
AU  - Fernanda Fortunato
AU  - Vera Frankova
AU  - Mats Hansson
PY  - 2026
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/s13023-025-04179-0
UR  - https://doi.org/10.1186/s13023-025-04179-0
ER  -

APA

Martin, S., Kyosovska-Peshtenska, G., Audi, J., Zarakowska, K., Grauman, Å., Veldwijk, J., Hauber, B., Coulter, J., Fürer, A., Wagner, A., Piperkova, A., Gross, E. S., Knieling, F., Gumus, G., Zak, M., Martinez-Fresno, M., Granados, A., Sansen, S., Man, Y., Kirschner, J., Bruno, L. P., Bertini, E. S., Ottombrino, S., Novelli, A., Agolini, E., Courbier, S., Garnier, N., Jackson, T., Velinov, B., Dubief, J., Raming, R., Saier, C., Fortunato, F., Frankova, V., & Hansson, M. (2026). Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-025-04179-0

Source records

crossref · retrieved 2026-09-26T14:35:15.228Z