Use of molecular genetic analyses in danish routine newborn screening

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DOI

  • Allan Meldgaard Lund, Københavns Universitet
  • ,
  • Flemming Wibrand, Københavns Universitet
  • ,
  • Kristin Skogstrand, Statens Serum Institut
  • ,
  • Marie Bækvad-Hansen, Statens Serum Institut
  • ,
  • Niels Gregersen
  • Brage Storstein Andresen, Syddansk Universitet
  • ,
  • David M. Hougaard, Statens Serum Institut
  • ,
  • Morten Dunø, Københavns Universitet
  • ,
  • Rikke Katrine Jentoft Olsen

Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing is useful to reduce the false positive rate while simultaneously providing information about the precise molecular genetic variant and thus informing therapeutic strategy and easing providing information to parents. When molecular genetic analyses are applied as second-tier testing, valuable functional data from biochemical methods are available and in our view, such targeted NGS technology should be implemented when possible in the NBS workflow. First-tier NGS technology may be a promising future possibility for disorders without a reliable biomarker and as a general approach to increase the adaptability of NBS for a broader range of genetic diseases, which is important in the current landscape of quickly evolving new therapeutic possibilities. However, studies on feasibility, sensitivity, and specificity are needed as well as more insight into what views the general population has towards using genetic analyses in NBS. This may be sensitive to some and could have potentially negative consequences for the NBS programme.

OriginalsprogEngelsk
Artikelnummer50
TidsskriftInternational Journal of Neonatal Screening
Vol/bind7
Nummer3
DOI
StatusUdgivet - sep. 2021

Bibliografisk note

Funding Information:
Funding: The work was supported by grants from the Ronald McDonald Børnefond, Danmarks Sundhedsfond, Direktør Ib Henriksens Fond, Ragnhild Ibsens Legat til Medicinsk Forskning, Gerda og Aage Haenschs Fond, Dronning Louises Børnehospitals Forskningsfond, Læge Sofus Carl Emil Friis og Hustru Olga Doris Friis’s Legat, Aase og Ejnar Danielsens Fond, Oda og Hans Svenningsens Fond, Fonden af 1870, Vanførefonden, Fonden til Lægevidenskabens Fremme, Aarhus County Research Initiative and the Danish Medical Research Council.

Funding Information:
The work was supported by grants from the Ronald McDonald B?rnefond, Danmarks Sundhedsfond, Direkt?r Ib Henriksens Fond, Ragnhild Ibsens Legat til Medicinsk Forskning, Gerda og Aage Haenschs Fond, Dronning Louises B?rnehospitals Forskningsfond, L?ge Sofus Carl Emil Friis og Hustru Olga Doris Friis?s Legat, Aase og Ejnar Danielsens Fond, Oda og Hans Svenningsens Fond, Fonden af 1870, Vanf?refonden, Fonden til L?gevidenskabens Fremme, Aarhus County Research Initiative and the Danish Medical Research Council.We are indebted to the staff of the obstetric and paediatric departments for participating in the recruitment and diagnostic workup. The dedicated work by technicians in CIMD, Copenhagen University Hospital, and the Research Unit for Molecular Medicine, Aarhus University Hospital, and in particular Helle Highland Nygaard is sincerely acknowledged. The Committee for Clinical Genetics and Screening, Danish Paediatric Society and The Danish National Board of Health are thanked for their excellent cooperation. Several authors of this publication are members of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN)?Project ID No 739543.

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© 2021 by the authors. Licensee MDPI, Basel, Switzerland.

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