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Related Experiment Videos

[Neonatal screening in Denmark. Status and future perspectives]

H Simonsen1, N J Brandt, B Nørgaard-Pedersen

  • 1Statens Serum Institut, klinisk biokemisk afdeling, København.

Ugeskrift for Laeger
|October 23, 1998
PubMed
Summary
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Neonatal screening for phenylketonuria and congenital hypothyroidism in Denmark, the Faroe Islands, and Greenland has identified numerous patients. This program offers substantial healthcare savings and supports biobanking for future disease research and diagnostics.

Area of Science:

  • Biomedical screening
  • Public health
  • Genetics

Context:

  • Established 20-year newborn screening programs in Denmark, Faroe Islands, and Greenland.
  • Focus on phenylketonuria (PKU) and congenital hypothyroidism (CH).
  • Detected 98 PKU and 356 CH cases with incidences of 1:12,000 and 1:3,400 respectively.

Purpose:

  • Evaluate the long-term impact and cost-effectiveness of neonatal screening.
  • Assess the utility of stored screening samples in a biobank.
  • Explore expansion of screening to include rare inherited metabolic diseases.

Summary:

  • Neonatal screening programs in Denmark, Faroe Islands, and Greenland have been running for two decades.
  • Screening has identified significant numbers of patients with phenylketonuria and congenital hypothyroidism.

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  • Estimated future healthcare savings are 196 million DKK annually, 28 times the screening cost.

    • Impact:

    • Significant cost savings in healthcare expenditures, with a 28-fold return on investment.
    • Biobank facilitates diagnosis of congenital diseases, infant deaths, and development of new screening methods.
    • Potential to expand screening using tandem mass spectrometry for cost-effective detection of multiple rare inherited metabolic diseases.