Page 15 - Read Online

Valcárcel-Nazco et al. Rare Dis Orphan Drugs J 2023;2:19 https://dx.doi.org/10.20517/rdodj.2023.14 Page 9 of 11

published: Valcárcel-Nazco C, García-Pérez L, Posada M, Serrano-Aguilar P
Performed data acquisition and interpretation, as well as providing technical and material support and
revising the draft critically: Renata Linertová R, Guirado-Fuentes C, Hernández-Yumar A, Paz-Valiñas L,
Cantero-Muñoz P

Availability of data and materials
Not applicable.

Financial support and sponsorship
None.

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2023.

REFERENCES
1. Bailey DB Jr. A window of opportunity for newborn screening. Mol Diagn Ther 2022;26:253-61. DOI PubMed PMC
2. Bailey DB Jr, Gehtland LM, Lewis MA, et al. Early check: translational science at the intersection of public health and newborn
screening. BMC Pediatr 2019;19:238. DOI PubMed PMC
3. Loeber JG, Burgard P, Cornel MC, et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization.
Part 1. From blood spot to screening result. J Inherit Metab Dis 2012;35:603-11. DOI PubMed
4. Chan K, Brower A, Williams MS. Population-based screening of newborns: Findings from the newborn screening expansion study
(part two). Front Genet 2022;13:867354. DOI PubMed PMC
5. Kemper AR, Green NS, Calonge N, et al. Decision-making process for conditions nominated to the recommended uniform screening
panel: statement of the US Department of Health and Human Services Secretary’s Advisory Committee on heritable disorders in
newborns and children. Genet Med 2014;16:183-7. DOI
6. Brower A, Chan K, Williams M, et al. Population-based screening of newborns: findings from the NBS expansion study (part one).
Front Genet 2022;13:867337. DOI PubMed PMC
7. Lyon J. Concerns over newborn screening. JAMA 2017;317:576. DOI PubMed
8. Jones SA, Cheillan D, Chakrapani A, et al. Application of a novel algorithm for expanding newborn screening for inherited metabolic
disorders across Europe. Int J Neonatal Screen 2022;8:20. DOI PubMed PMC
9. Loeber JG, Platis D, Zetterström RH, et al. Neonatal screening in Europe revisited: an ISNS perspective on the current state and
developments since 2010. Int J Neonatal Screen 2021;7:15. DOI
10. Scarpa M, Bonham JR, Dionisi-Vici C, et al. Newborn screening as a fully integrated system to stimulate equity in neonatal screening
in Europe. Lancet Reg Health Eur 2022;13:100311. DOI PubMed PMC
11. Wilson JMG, Jungner G; World Health Organization. principles and practice of screening for disease. Geneva; 1968. Available from:
https://niercheck.nl/wp-content/uploads/2019/06/Wilson-Jungner-1968.pdf [Last accessed on 13 Sep 2023]
12. Andermann A, Blancquaert I, Beauchamp S, Déry V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria
over the past 40 years. Bull World Health Organ 2008;86:317-9. DOI PubMed PMC
13. Jansen ME, Metternick-Jones SC, Lister KJ. International differences in the evaluation of conditions for newborn bloodspot screening:
a review of scientific literature and policy documents. Eur J Hum Genet 2016;25:10-6. DOI PubMed PMC
14. Sikonja J, Groselj U, Scarpa M, et al. Towards achieving equity and innovation in newborn screening across Europe. Int J Neonatal
Screen 2022;8:31. DOI PubMed PMC
15. Botkin JR, Clayton EW, Fost NC, et al. Newborn screening technology: proceed with caution. Pediatrics 2006;117:1793-9. DOI
16. Friedman JM, Cornel MC, Goldenberg AJ, Lister KJ, Sénécal K, Vears DF; Global Alliance for Genomics and Health Regulatory and
Ethics Working Group Paediatric Task Team. Genomic newborn screening: public health policy considerations and recommendations.