Abstract
Newborn screening (NBS) for inherited and congenital disorders is a form of secondary disease prevention and a public health responsibility. The development of NBS programs is one of the most important achievements in health care. While the scope of the screening targets has expanded and methods have evolved, the screening process has remained essentially unchanged.
In 2006, the Canadian province of Ontario implemented a new provincial NBS program that differs from conventional programs. One of the key differences is the structured and fully funded partnership between the ministry of health, the NBS laboratory, and the treatment centers in the province. Each one of these partners has defined roles and accountability. Another difference is the move away from the conventional recall process to an immediate referral system to selected treatment centers.
In this article, we report our experience with the new screening structure and discuss it as a model for future NBS programs.
Zusammenfassung
Das Neugeborenen-Screening auf angeborene Krankheiten stellt eine Form der sekundären Krankheitsprävention dar, die zur Verantwortlichkeit des Gesundheitswesens gehört. Die Entwicklung des Neugeboren-Screenings ist eine der bedeutendsten Errungenschaften des Gesundheitswesens. Während sich der Umfang der gescreenten Krankheiten erweitert hat und Methoden weiterentwickelt wurden, sind die Abläufe des Screenings im Wesentlichen unverändert geblieben.
Die kanadische Provinz Ontario hat im Jahr 2006 ein neues provinzweites Neugeborenen-Screening-Programm eingeführt, das sich von konventionellen Programmen unterscheidet. Einer der wesentlichen Unterschiede ist die klar strukturierte und finanziell abgesicherte Partnerschaft zwischen Gesundheitsministerium, Screening-Labor und Behandlungszentren, in der jedem Partner eine vordefinierte Rolle mit voller Verantwortlichkeit zugewiesen wurde. Ein weiterer Unterschied zu bisherigen Programmen ist die Abwendung vom konventionellen Recall-Prozess zu einem unmittelbaren Überweisungssystem an ausgewählte Behandlungszentren.
In diesem Artikel berichten wir über unsere Erfahrungen mit der neuen Screening-Struktur und diskutieren sie als mögliches Modell für weitere Neugeborenen-Screening-Programme.
Similar content being viewed by others
Notes
Exceptions are screen-positive results for congenital hypothyroidism. The referral is made either to the RC or to a dedicated pediatric endocrinologist outside the RC.
References
Cunningham G (2002) The science and politics of screening newborns. N Engl J Med 346:1084–1085
Wilson JMG, Jungner G (1968) Principles and practice of screening for disease. In: Public Health Papers No. 34. World Health Organization, Geneva
Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications. Pediatrics 111:1399–1406
Schulze A, Matern D, Hoffmann GF (2017) Newborn screening. In: Sarafoglou K, Hoffmann GF, Roth SK (eds) Pediatric endocrinology and inborn errors of metabolism, 2nd edn. McGraw-Hill, New York, pp 3–23
Levy HL (1998) Newborn screening by tandem mass spectrometry: a new era. Clin Chem 44:2401–2402
Ontario newborn screening. https://www.newbornscreening.on.ca/en. Accessed 14 Aug 2023
Pluscauskas M, Henderson M, Milburn J, Chakraborty P (2019) Building a newborn screening information management system from theory to practice. Int J Neonatal Screen 5:9
Better outcomes registry & network. https://www.bornontario.ca/. Accessed 14 Aug 2023
Screening reports. https://www.newbornscreening.on.ca/en/about-nso/annual-reports. Accessed 14 Aug 2023
C5OH-related targets. https://www.newbornscreening.on.ca/en/c5oh-related-targets. Accessed 14 Aug 2023
Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P (2007) Reduction of the false-positive rate in newborn screening by implementation of ms/ms-based second-tier tests: the mayo clinic experience (2004–2007). J Inherit Metab Dis 30:585–592
Zabransky S (1997) Jahresstatistik 1996. Screen J: 22–27
(2020) Ontario newborn screening report. https://www.newbornscreening.on.ca/sites/default/files/2020_nso_annual_report_public_v.2021_2020.pdf. Accessed 14 Aug 2023
(2020) Nationaler screeningreport deutschland. http://www.screening-dgns.net/Pdf/Screeningreports/DGNS-Screeningreport-d_2020.pdf. Accessed 14 Aug 2023
Lipstein EA, Perrin JM, Waisbren SE, Prosser LA (2009) Impact of false-positive newborn metabolic screening results on early health care utilization. Genet Med 11:716–721
Hayeems RZ, Miller FA, Barg CJ, Bombard Y, Carroll JC, Tam K, Kerr E, Chakraborty P, Potter BK, Patton S et al (2017) Psychosocial response to uncertain newborn screening results for cystic fibrosis. J Pediatr 184:165–171.e1
Hewlett J, Waisbren SE (2006) A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis 29:677–682
Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE (2006) Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 117:1915–1921
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
A. Schulze and P. Chakraborty declare that they have no competing interests.
For this article no studies with human participants or animals were performed by any of the authors. All studies mentioned were in accordance with the ethical standards indicated in each case.
Additional information
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary Information
– Example of disease specific algorithm for the workup in a screen-positive neonate
– eDERF
– Forms for review of screening conditions to be added to/removed from the NBS panel in Ontario
– Example of an algorithm for the retrieval center team
– List of NBS target coditions in Ontario
Rights and permissions
Springer Nature oder sein Lizenzgeber (z.B. eine Gesellschaft oder ein*e andere*r Vertragspartner*in) hält die ausschließlichen Nutzungsrechte an diesem Artikel kraft eines Verlagsvertrags mit dem/den Autor*in(nen) oder anderen Rechteinhaber*in(nen); die Selbstarchivierung der akzeptierten Manuskriptversion dieses Artikels durch Autor*in(nen) unterliegt ausschließlich den Bedingungen dieses Verlagsvertrags und dem geltenden Recht.
About this article
Cite this article
Schulze, A., Chakraborty, P. The Ontario Newborn Screening Program: A novel referral center model. Bundesgesundheitsbl 66, 1205–1213 (2023). https://doi.org/10.1007/s00103-023-03786-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00103-023-03786-1
Keywords
- Newborn Screening Ontario
- Screening program structure
- Referral center model
- Public health
- Secondary disease prevention