Storage policies and use of the Danish Newborn Screening Biobank

Nørgaard‐Pedersen, Bent; Hougaard, David M.

doi:10.1007/s10545-007-0631-x

Cited by 238 publications

(236 citation statements)

References 34 publications

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“…22 The study was restricted to infants of white ancestry. For cases, this information was registered in the Extreme Hyperbilirubinemia Database, and controls were found by computerized, randomly selected dried blood spot samples from term infants born in the study period in the Biobank' s database of mothers who had a northwestern European last name.…”

Section: Methodsmentioning

confidence: 99%

Extreme Neonatal Hyperbilirubinemia and a Specific Genotype: A Population-Based Case-Control Study

Petersen

Henriksen²,

Hollegaard

et al. 2014

Pediatrics

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WHAT'S KNOWN ON THIS SUBJECT: For newborn infants, extreme hyperbilirubinemia ($24.5 mg/dL) is associated with risk for severe bilirubin encephalopathy. The causal factor of extreme hyperbilirubinemia is often not established. The genotype of Gilbert syndrome, the UGT1A1*28 allele, is considered a potential risk factor. WHAT THIS STUDY ADDS:The UGT1A1*28 allele was not associated with risk for developing extreme hyperbilirubinemia. abstract OBJECTIVES: Extreme hyperbilirubinemia (plasma bilirubin $24.5 mg/dL) is an important risk factor for severe bilirubin encephalopathy. Several risk factors for hyperbilirubinemia are known, but in a large number of patients, a causal factor is never established. UGT1A1 is the rate-limiting enzyme in bilirubin' s metabolism. The genotype of Gilbert syndrome, the UGT1A1*28 allele, causes markedly reduced activity of this enzyme, but its association with neonatal hyperbilirubinemia is uncertain and its relationship with extreme hyperbilirubinemia has not been studied. We examined whether the UGT1A1*28 allele is associated with extreme hyperbilirubinemia. METHODS:The UGT1A1*28 allele was assessed in a case-control study of 231 white infants who had extreme hyperbilirubinemia in Denmark from 2000 to 2007 and 432 white controls. Cases were identified in the Danish Extreme Hyperbilirubinemia Database that covers the entire population. Genotypes were obtained through the Danish Neonatal Screening Biobank. Subgroup analysis was done for AB0 incompatible cases. RESULTS:No association was found between the UGT1A1*28 allele and extreme hyperbilirubinemia. With the common genotype as reference, the odds ratio of extreme hyperbilirubinemia was 0.87 (range, 0.68-1.13) for UGT1A1*28 heterozygotes and 0.77 (range, 0.46-1.27) for homozygotes. Also, no association was found for AB0 incompatible cases.

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Section: Methodsmentioning

confidence: 99%

Extreme Neonatal Hyperbilirubinemia and a Specific Genotype: A Population-Based Case-Control Study

Petersen

Henriksen²,

Hollegaard

et al. 2014

Pediatrics

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“…Hospital managers are increasingly grappling with the diffi culties and challenges of redefi nitions of their patient populations and the samples and information that they manage, as well as the storage policies they ought to develop (Nørgaard-Pedersen & Hougaard, 2007). Current policies and guidelines are not clear as to what the status of patients is with regard to their samples and data.…”

Section: Hospital-based Biobank Researchmentioning

confidence: 99%

Rethinking Therapeutic Misconception in Biobanking – Ambivalence Between Research and Treatment

Tupasela

Snell

Cañada

2017

S&TS

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Some authors have noted that in biobank research participants may be guided by what is called therapeutic misconception, whereby participants attribute therapeutic intent to research procedures. This article argues that the notion of therapeutic misconception is increasingly less justifi ed when evaluating biobanks. We present four examples taken from recent developments in biobanking to argue why the notion of therapeutic misconception is problematic in that biobanking practices are increasingly seeking to bridge research and treatment in diff erent ways. In this article we explore examples where the boundary between research and treatment become increasingly blurred, as well as the contextual signifi cance of healthcare systems and their prevailing ideologies in healthcare management. We argue that biobanking practices are challenging the use value, as well as the philosophical and ethical underpinnings for the need to separate research and treatment, and thus the notion of therapeutic misconception in the fi rst place. We call this tension between research and treatment ambivalent research advancement to highlight the diffi culties that various actors have in managing such shifts within the healthcare-research systems.

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“…Most policies both at the national, regional and international levels reveal that newborn blood spots are more commonly stored than destroyed [20,23,[27][28][29][30][31]. Several guidelines indicate a need to inform parents and community regarding storage and the potential uses of retained blood spots [20,28,29,31,32].…”

Section: Nbs: Storage and Researchmentioning

confidence: 99%

“…Several guidelines indicate a need to inform parents and community regarding storage and the potential uses of retained blood spots [20,28,29,31,32]. However, in practice, it seems that most parents are not informed about the specific issues surrounding the long term storage of newborn bloodspots [33].…”

Section: Nbs: Storage and Researchmentioning

confidence: 99%

“…In some countries, newborn blood spots are not stored beyond the period necessary to achieve the tests for which samples were taken as well as for audit and quality assurance [34,35]. Periods of retention vary tremendously and run from five years [23,27] to indefinitely [28]. Some countries however, determine storage according to purpose (e.g.…”

Section: Nbs: Storage and Researchmentioning

confidence: 99%

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