Journal of Inherited Metabolic Disease

, Volume 30, Issue 4, pp 530–536 | Cite as

Storage policies and use of the Danish Newborn Screening Biobank

Newborn Screening


After routine newborn screening, residual dried blood spot samples (DBSS) are stored at −20°C in the Danish Newborn Screening Biobank (NBS-Biobank), which contains DBSS from virtually all newborns in Denmark since 1982—about 1.8 million samples. The purpose of the storage is: (1) diagnosis and treatment of congenital disorders including documentation, repeat testing, quality assurance, statistics and improvement of screening methods; (2) diagnostic use later in infancy after informed consent; (3) legal use after court order; (4) the possibility of research projects after approval by the Scientific Ethical Committee System in Denmark, The Danish Data Protection Agency and the NBS-Biobank Steering Committee. The operation and use of the NBS-Biobank has until recently been regulated by an executive order of 1993 from the Danish Ministry of Health. The Ethical Council, the Central Scientific Ethical Committee and the National Board of Health were also involved in the regulations. These regulations have now been replaced by detailed general operational guidelines for biobanks in Denmark according to Acts on Processing of Personal Data, Patient’s Rights, Health 546/2005 and the Biomedical Research Ethics Committee System. No specific Act on biobanks per se has been made in Denmark, but the new regulations and guidelines make the operations of the Danish NBS-Biobank even more clear-cut and safe. The Danish NBS-Biobank has been used in several research projects for aetiological studies of a number of disorders, recently employing new sensitive multiplex technologies and genetic analyses utilizing whole-genome amplified DNA.


Newborn Screening Congenital Hypothyroidism Neonatal Screening Danish Data Protection Agency Congenital Toxoplasmosis 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Aggerbeck H, Nørgaard-Pedersen B, Heron I (1996) Simultaneous quantitation of diphtheria and tetanus antibodies by double antigen, time-resolved fluorescence immunoassay. J Immunol Methods 190: 171–183.PubMedCrossRefGoogle Scholar
  2. Almind G, Nielsen L, Pedersen NS, Riis P (1996) Health science information banks: Biobanks. Copenhagen: Laegeforeningens forlag.Google Scholar
  3. Christensen K, Olsen J, Nørgaard-Pedersen B, et al (1999) Oral clefts, transforming growth factor alpha gene variants, and maternal smoking: a population-based case-control study in Denmark, 1991–1994. Am J Epidemiol 149: 248–255.PubMedGoogle Scholar
  4. Christiansen M, Tonder N, Larsen LA, et al (2005) Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome. Am J CARDIOL 95: 433.PubMedCrossRefGoogle Scholar
  5. Danish Ministry of Internal Affairs and Health (2002) An Account on Biobanks. Summary in English, No. 1414, May, 245–248. ISBN 87-601-9562-2.Google Scholar
  6. Danish National Committee on Biomedical Research Ethics (2004) Guidelines about notification etc. of a biomedical research project to the committee system on biomedical research ethics, November 2004. Available in English at = 1642
  7. Eiberg H, Nørgaard-Pedersen B, Nielsen I-M (2003) Cholestasis familiaris Groenlandica/Byler-like disease in Greenland—A population study. Proceedings of the 12th International Congress on Circumpolar Health. Int J Circumpolar Health 63(Supplement 2): 189–193.Google Scholar
  8. Eising S, Svensson J, Skogstrand K, et al (2007) Type 1 diabetes risk analysis on dried blood spot samples from population based newborns. Design and feasibility of an unselected case control study. Endocrinol Metab Clin Immunol [In press].Google Scholar
  9. Green NS, Pass KA (2006) Neonatal screening by DNA microarray: spots and chips. [Opinion.] Nat Rev 6: 147–151.Google Scholar
  10. Hansen PS, Nørgaard-Pedersen B, Meinertz H, et al (1994) Incidence of the apolipoprotein B-3500 mutation in Denmark. Clin Chim Acta 230: 101–104.PubMedCrossRefGoogle Scholar
  11. Hartlev M, Lind U (2006) Use of blood samples from the Danish PKU-biobank—a study of the conceptualization of research in law and in action. [In press]. ( Scholar
  12. Hollegaard MV, Sørensen KM, Petersen HK, Arnardottir MB, Nørgaard-Pedersen B, Thorsen P, Hougaard DM (2007) Whole-genome-amplification and genetic analysis after extraction of proteins from dried blood spots. Clin Chem 53: 1161–1162.Google Scholar
  13. Jacobs C, van den Heuvel CM, Stellaard F, Largilliere C, Skovby F, Christensen E (1993) Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening. J. Inherit Metab Dis 16: 63–66.CrossRefGoogle Scholar
  14. Jiang M, Aittomaki K, Nilsson C, et al (1998) The frequency of an inactivating point mutation (566C→T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. J Clin Endocrinol Metab 83: 4338–4343.PubMedCrossRefGoogle Scholar
  15. Larsen LA, Fosdal I, Andersen PS, et al (1999) Recessive Romano–Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. Eur J Hum Genet 7: 724–728.PubMedCrossRefGoogle Scholar
  16. Larsen TB, Lassen JF, Brandslund I, Byriel L, Petersen GB, Nørgaard-Pedersen B (1998) The Arg506Gln mutation (FV Leiden) among a cohort of 4188 unselected Danish newborns. Thromb Res 89: 211–215.PubMedCrossRefGoogle Scholar
  17. Lebech M, Petersen E (1992) Neonatal screening for congenital toxoplasmosis in Denmark: presentation of the design of a prospective study. Suppl Scand J Infect Dis 84: 75–79.Google Scholar
  18. Lebech M, Andersen O, Christensen NC, et al (1999) Feasibility of neonatal screening for toxoplasma infection in the absence of prenatal treatment. Lancet 353: 1834–1837.PubMedCrossRefGoogle Scholar
  19. Lund AM, Joensen F, Hougaard DM, et al (2007) Carnitine transporter and holocarboxylase synthase deficiencies in the Faroe Islands. J Inherit Metab Dis 30: 341–349.Google Scholar
  20. Lundemose JB, Gregersen N, Kølvraa S, et al (1993) The frequency of a disease-causing point-mutation in the gene coding for medium-chain acyl-CoA dehydrogenase (MCAD) in sudden infant death syndrome (SIDS). Acta Paediatr 82: 544–546.PubMedGoogle Scholar
  21. Meikle PJ, Ranieri E, Simonsen H et al (2004) Newborn screening for lysosomal storage disorders: clinical evaluation of a two tier strategy. Pediatrics 114: 909–916.PubMedCrossRefGoogle Scholar
  22. Merryweather-Clarke AT, Simonsen H, Shearman JD, Pointon JJ, Nørgaard-Pedersen B, Robson KJ (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. Hum Mutat 13: 154–159.PubMedCrossRefGoogle Scholar
  23. Ministry of Health (1993) Executive order of 14 January 1993. Regulations for the PKU Registry at Statens Serum Institut, Copenhagen: Ministry of Health.Google Scholar
  24. Mortensen PB, Nørgaard-Pedersen B, Waltoft BL, et al (2007) Toxoplasma gondii as a risk factor for early-onset schizophrenia: analysis of filter paper blood samples obtained at birth. Biol Psychiatry 61: 688–693.PubMedCrossRefGoogle Scholar
  25. Naylor EW, Chace DH (1999) Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol 14(Supplement 1): S4–S8.PubMedGoogle Scholar
  26. Nilsson C, Jiang M, Pettersson K, et al (1998) Determination of a common genetic variant of luteinizing hormone using DNA hybridization and immunoassays. Clin Endocrinol (Oxf) 49: 369–376.CrossRefGoogle Scholar
  27. Nørgaard-Pedersen B (1997a) Use of stored samples from the Danish PKU register. In: Knoppers BM, Laberge CM, eds. Human DNA: Law and Policy. The Hague: Kluwer Law International, 303–311.Google Scholar
  28. Nørgaard-Pedersen B (1997b) The Danish PKU register and Biobank. In: Proceedings of the Workshop on Human Biobanks: Ethical and Social Issues 9. Nord Biotechnol 59–73.Google Scholar
  29. Nørgaard-Pedersen B, Simonsen H (1999) Biological specimen banks in neonatal screening. Acta Paediatr Suppl 88(432): 106–109.PubMedGoogle Scholar
  30. Nørgaard-Pedersen B, Høgdall E, Iitiä A, Arends J, Dahlen P, Vuust J (1999) Immunoreactive trypsin and a comparison of two ΔF508 mutation analyses in newborn screening for cystic fibrosis: an anonymous pilot study in Denmark. Screening 2: 1–11.CrossRefGoogle Scholar
  31. Oliver S, Stewart R, Hargreaves K, Dezateux C (2005) The storage and use of newborn babies’ blood spot cards: a public consultation. London: Social Science Research Unit, Institute of Education, University of London, 23 pages.Google Scholar
  32. Olney RS, Moore CA, Ojodu JA, et al (2006) Storage and use of residual dried blood spots from state newborn screening programmes. J. Pediatr 148: 618–622.PubMedCrossRefGoogle Scholar
  33. Olsen J, Melbye M, Olsen SF, et al (2001) The Danish National Birth Cohort—its background, structure and aim. Scand J Public Health 29: 300–307.PubMedCrossRefGoogle Scholar
  34. Paynter RA, Skibola DR, Skibola CF, Buffler PA, Wiemels JL, Smith MT (2006) Accuracy of multiplexed Illumina platform-based single nucleotide polymorphism genotyping compared between genomic and whole genome amplified DNA collected from multiple sources. Cancer Epidemiol Biomarkers Prev 15: 2533–2536.PubMedCrossRefGoogle Scholar
  35. Petersen MB, Brostrøm K, Stibler H, Skovby F (1993) Early manifestations of the carbohydrate-deficient glycoprotein syndrome. J. Pediatr 122: 66–70.PubMedCrossRefGoogle Scholar
  36. Simonsen H, Brandt NJ, Nørgaard-Pedersen B (1998) Neonatal screening in Danmark. Status og fremtidsperspektiver. Ugeskr. Laeg 160: 5777–5782.PubMedGoogle Scholar
  37. Skogstrand K, Thorsen P, Nørgaard-Pedersen B, Schendel DE, Sørensen LC, Hougaard DM (2005) Simultaneous measurement of 25 inflammatory markers and neurotrophins in neonatal dried blood spots by immunoassay with xMAP technology. Clin Chem 51: 1854–1866.PubMedCrossRefGoogle Scholar
  38. Sørensen KM, Jespersgaard C, Vuust J, Hougaard DM, Nørgaard-Pedersen B, Andersen PS (2007) Whole genome amplification on DNA from filter paper blood spot samples—an evaluation of selected systems. Genet Test 11: 65–71.PubMedCrossRefGoogle Scholar
  39. Therrell BL, Hannon WH, Pass KA, et al (1996) Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: Statement of the Council of Regional Networks for Genetic Services. Biochem Mol Med 57: 116–124.PubMedCrossRefGoogle Scholar
  40. Therrell BL, Johnson A, Williams D (2006) Status of newborn screening programmes in the United States. Pediatrics 117: 5212–5252.Google Scholar
  41. Valeur-Jensen AK, Pedersen CB, Westergaard T, et al (1999) Risk factors for parvovirus B19 infection in pregnancy. JAMA 281: 1099–1105.PubMedCrossRefGoogle Scholar
  42. Webster D. (2003) Storage and use of residual dried blood spots. Southeast Asian J Trop Med Public Health 34(Supplement 3): 49–51.PubMedGoogle Scholar

Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  1. 1.Department of Clinical BiochemistryStatens Serum InstitutCopenhagenDenmark
  2. 2.Department of Clinical BiochemistryStatens Serum InstitutCopenhagen SDenmark

Personalised recommendations