Use of molecular genetic analyses in danish routine newborn screening

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  • Allan Meldgaard Lund, University of Copenhagen
  • ,
  • Flemming Wibrand, University of Copenhagen
  • ,
  • Kristin Skogstrand, Statens Serum Institut
  • ,
  • Marie Bækvad-Hansen, Statens Serum Institut
  • ,
  • Niels Gregersen
  • Brage Storstein Andresen, University of Southern Denmark
  • ,
  • David M. Hougaard, Statens Serum Institut
  • ,
  • Morten Dunø, University of Copenhagen
  • ,
  • 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.

Original languageEnglish
Article number50
JournalInternational Journal of Neonatal Screening
Publication statusPublished - Sept 2021

Bibliographical note

Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.

    Research areas

  • First-tier test, Neonatal screening, Newborn screening, Next generation sequencing, Second-tier test, Tandem mass spectrometry

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