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

Therrell, Bradford L.; Hannon, W. Harry; Pass, Kenneth A.; Lorey, Fred; Brokopp, Charles D.; Eckman, James R.; Glass, Michael; Heidenreich, Randall A.; Kinney, S.; Kling, S.; Landenburger, Gretchen; Meaney, F. John; McCabe, Edward R.B.; Panny, Susan R.; Schwartz, Michael R.; Shapira, Emmanuel

doi:10.1006/bmme.1996.0017

Cited by 117 publications

(72 citation statements)

References 25 publications

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“…Many ethical, legal, and social issues surrounding the use of dried blood spots in a research setting, including linkage of the spots to personal information, are still being debated and are not fully resolved. 51 While the debate continues over the research uses, analysis of stored blood spots has been useful to address issues of public health importance. For example, investigators have used stored blood spots to test new technologies for newborn screening such as tandem mass spectrometry 52,53 and to determine populationbased genotype frequencies of loci of interest.…”

Section: Discussionmentioning

confidence: 99%

Characterization of β-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS

Crawford

Casini

Harris

et al. 2002

Genetics in Medicine

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Purpose: A population-based cohort from three state newborn screening programs was used to describe ␤-globin gene cluster variation. Methods: Blood spots from newborns homozygous for HbS were genotyped for five restriction fragment length polymorphisms (RFLPs) to construct ␤-globin haplotypes. Haplotype distributions were compared by race/ethnicity and sex. Expected heterozygosities were calculated and compared with observed heterozygosities. Results: Haplotype distributions did not differ between sexes for either blacks or Hispanics.Neither racial/ethnic group deviated from Hardy-Weinberg equilibrium; however, Hispanics had higher heterozygosity at two RFLPs compared with blacks. Conclusion: The differences between populations probably reflect recent migration and admixture rather than selection. Genet Med 2002:4(5):328 -335.

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Section: Discussionmentioning

confidence: 99%

Characterization of β-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS

Crawford

Casini

Harris

et al. 2002

Genetics in Medicine

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“…In the context of risk, some authors in ethical literature have argued that the risk of privacy breaches is removed when anonymous samples are used. 57,58 However, others such as Lysaught, 59 point out to the possibility that genetic research may lead to group stigma, and hence indirectly may affect the individual. Moreover, subjects may feel strongly about the type of research that is done on their tissue, regardless of the level of identifiability, as mentioned by Trouet.…”

Section: Ethics Committee Review and Anonymizationmentioning

confidence: 99%

Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers

Hens¹,

Nys²,

Cassiman³

et al. 2009

Eur J Hum Genet

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Stored tissue samples are an important resource for epidemiological genetic research. Genetic research on biological material from minors can yield valuable information on the development and genesis of earlyonset genetic disorders and the early interaction of environmental and genetic factors. The use of such tissue raises some specific ethical and governance questions, which are not completely covered by the discussion on biological materials from adults. We have retrieved 29 guidelines and position papers pertaining to the storage and use of biological tissue samples for genetic research, originating from 27 different organizations. Five documents have an international scope, three have an European scope and 21 have a national scope. We discovered that 11 of these documents did not contain a section on biological materials from minors. The content of the remaining 18 documents was categorized according to four themes: consent, principles of non-therapeutic research on vulnerable populations, ethics committee approval and difference between anonymous and identifiable samples. We found out that these themes are not consistently mentioned by each document, but that documents discussing the same themes were mostly in agreement with their recommendations. However, a systematic reflection on the ethical and policy issues arising from the participation of minors in biobank research is missing.

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“…These residual DBS can potentially be used to diagnose retrospectively congenital infections after the occurrence of adverse health outcomes, to screen for congenital infections, or for retrospective population-based analyses of birth defects or other conditions (Choi et al, 2009;Therrell et al, 2011). A challenge to using residual DBS is that storage conditions are often not ideal, thus limiting the research studies that can be performed (Therrell et al, 1996). In addition, the availability of residual DBS for research varies by state (Therrell et al, 2011;Therrell and Hannon, 2012).…”

Section: Discussionmentioning

confidence: 99%

A pilot study using residual newborn dried blood spots to assess the potential role of cytomegalovirus and Toxoplasma gondii in the etiology of congenital hydrocephalus

Simeone

Rasmussen

Mei

et al. 2013

Birth Defects Research

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BACKGROUND-Congenital hydrocephalus is a condition characterized by accumulation of cerebrospinal fluid in the ventricles of the brain. Prenatal infections are risk factors for some birth defects. This pilot study investigated whether residual dried blood spots (DBS) could be used to assess infections as risk factors for birth defects by examining the associations between prenatal infection with Toxoplasma gondii (T. gondii) or cytomegalovirus (CMV) with congenital hydrocephalus.

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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

Cited by 117 publications

References 25 publications

Characterization of β-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS

Characterization of β-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS

Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers

A pilot study using residual newborn dried blood spots to assess the potential role of cytomegalovirus and Toxoplasma gondii in the etiology of congenital hydrocephalus

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