Storage policies and use of the Danish Newborn Screening Biobank
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.Get Access
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 These regulations have now been replaced by detailed general operational guidelines for biobanks in Denmark according to Acts on Processing of Personal Data, Patient’s Rights, Health 546/2005 and the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.
- 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: pp. 171-183 CrossRef
- Almind, G, Nielsen, L, Pedersen, NS, Riis, P (1996) Health science information banks: Biobanks. Laegeforeningens forlag, Copenhagen
- Christensen, K, Olsen, J, Nørgaard-Pedersen, B (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: pp. 248-255
- Christiansen, M, Tonder, N, Larsen, LA (2005) Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome. Am J CARDIOL 95: pp. 433 CrossRef
- 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.
- 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 http://www.cvk.im.dk/visArtilel.asp?artikelID = 1642
- 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: pp. 189-193
- 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].
- Green, NS, Pass, KA (2006) Neonatal screening by DNA microarray: spots and chips. [Opinion.]. Nat Rev 6: pp. 147-151
- Hansen, PS, Nørgaard-Pedersen, B, Meinertz, H (1994) Incidence of the apolipoprotein B-3500 mutation in Denmark. Clin Chim Acta 230: pp. 101-104 CrossRef
- 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]. (firstname.lastname@example.org).
- 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.
- Jacobs, C, 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: pp. 63-66 CrossRef
- Jiang, M, Aittomaki, K, Nilsson, C (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: pp. 4338-4343 CrossRef
- Larsen, LA, Fosdal, I, Andersen, PS (1999) Recessive Romano–Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. Eur J Hum Genet 7: pp. 724-728 CrossRef
- 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: pp. 211-215 CrossRef
- 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: pp. 75-79
- Lebech, M, Andersen, O, Christensen, NC (1999) Feasibility of neonatal screening for toxoplasma infection in the absence of prenatal treatment. Lancet 353: pp. 1834-1837 CrossRef
- 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.
- Lundemose, JB, Gregersen, N, Kølvraa, S (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: pp. 544-546
- Meikle, PJ, Ranieri, E, Simonsen, H (2004) Newborn screening for lysosomal storage disorders: clinical evaluation of a two tier strategy. Pediatrics 114: pp. 909-916 CrossRef
- 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: pp. 154-159 CrossRef
- Ministry of Health (1993) Executive order of 14 January 1993. Regulations for the PKU Registry at Statens Serum Institut, Copenhagen: Ministry of Health.
- Mortensen, PB, Nørgaard-Pedersen, B, Waltoft, BL (2007) Toxoplasma gondii as a risk factor for early-onset schizophrenia: analysis of filter paper blood samples obtained at birth. Biol Psychiatry 61: pp. 688-693 CrossRef
- 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: pp. S4-S8
- Nilsson, C, Jiang, M, Pettersson, K (1998) Determination of a common genetic variant of luteinizing hormone using DNA hybridization and immunoassays. Clin Endocrinol (Oxf) 49: pp. 369-376 CrossRef
- Nørgaard-Pedersen, B Use of stored samples from the Danish PKU register. In: Knoppers, BM, Laberge, CM eds. (1997) Human DNA: Law and Policy. Kluwer Law International, The Hague, pp. 303-311
- 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.
- Nørgaard-Pedersen, B, Simonsen, H (1999) Biological specimen banks in neonatal screening. Acta Paediatr Suppl 88: pp. 106-109
- 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: pp. 1-11 CrossRef
- 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.
- Olney, RS, Moore, CA, Ojodu, JA (2006) Storage and use of residual dried blood spots from state newborn screening programmes. J Pediatr 148: pp. 618-622 CrossRef
- Olsen, J, Melbye, M, Olsen, SF (2001) The Danish National Birth Cohort—its background, structure and aim. Scand J Public Health 29: pp. 300-307 CrossRef
- 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: pp. 2533-2536 CrossRef
- Petersen, MB, Brostrøm, K, Stibler, H, Skovby, F (1993) Early manifestations of the carbohydrate-deficient glycoprotein syndrome. J Pediatr 122: pp. 66-70 CrossRef
- Simonsen, H, Brandt, NJ, Nørgaard-Pedersen, B (1998) Neonatal screening in Danmark. Status og fremtidsperspektiver. Ugeskr. Laeg 160: pp. 5777-5782
- 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: pp. 1854-1866 CrossRef
- 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: pp. 65-71 CrossRef
- Therrell, BL, Hannon, WH, Pass, KA (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: pp. 116-124 CrossRef
- Therrell, BL, Johnson, A, Williams, D (2006) Status of newborn screening programmes in the United States. Pediatrics 117: pp. 5212-5252
- Valeur-Jensen, AK, Pedersen, CB, Westergaard, T (1999) Risk factors for parvovirus B19 infection in pregnancy. JAMA 281: pp. 1099-1105 CrossRef
- Webster, D (2003) Storage and use of residual dried blood spots. Southeast Asian J Trop Med Public Health 34: pp. 49-51
- Storage policies and use of the Danish Newborn Screening Biobank
Journal of Inherited Metabolic Disease
Volume 30, Issue 4 , pp 530-536
- Cover Date
- Print ISSN
- Online ISSN
- Springer Netherlands
- Additional Links
- Industry Sectors