Newborn dried blood spot samples in Denmark: the hidden figures of secondary use and research participation

TY - JOUR

T1 - Newborn dried blood spot samples in Denmark

T2 - the hidden figures of secondary use and research participation

AU - Nordfalk, Francisca

AU - Ekstrøm, Claus Thorn

PY - 2019/2/1

Y1 - 2019/2/1

N2 - Each year millions of newborns are part of a newborn disease-screening program in which, after initial screening, the newborn dried blood spot (NDBS) samples can be stored and used as a population-based research resource. However, very little knowledge exists about how these samples are used for secondary purposes. Our objective is to estimate and describe the usage of a NDBS-based national population biobank for secondary research purposes. We therefore conducted a scoping study with a literature search for all published articles using samples from the Danish Newborn Screening Biobank. Our main inclusion criteria were that the articles had to have actively used and analyzed one or more of the Danish NDBS samples for a purpose beyond the primary screening. Our search led to a final 104 articles, which were coded for three main purposes: (1) how many samples were used in each article, (2) the field of their research, and (3) information on consent and ethics approval as research. From our analysis, we present two main findings: an estimated use of up to 37.5% of all samples in the newborn screening biobank have been part of published research, and a shift in the research areas from methodological and metabolic studies to studies concerning mental illness. This paper provides new insights into the use of a national biobank, and we hope that the results will contribute to the discussions on the use of biological samples for research purposes, and also inspire a greater transparency in the future use of NDBS samples.

AB - Each year millions of newborns are part of a newborn disease-screening program in which, after initial screening, the newborn dried blood spot (NDBS) samples can be stored and used as a population-based research resource. However, very little knowledge exists about how these samples are used for secondary purposes. Our objective is to estimate and describe the usage of a NDBS-based national population biobank for secondary research purposes. We therefore conducted a scoping study with a literature search for all published articles using samples from the Danish Newborn Screening Biobank. Our main inclusion criteria were that the articles had to have actively used and analyzed one or more of the Danish NDBS samples for a purpose beyond the primary screening. Our search led to a final 104 articles, which were coded for three main purposes: (1) how many samples were used in each article, (2) the field of their research, and (3) information on consent and ethics approval as research. From our analysis, we present two main findings: an estimated use of up to 37.5% of all samples in the newborn screening biobank have been part of published research, and a shift in the research areas from methodological and metabolic studies to studies concerning mental illness. This paper provides new insights into the use of a national biobank, and we hope that the results will contribute to the discussions on the use of biological samples for research purposes, and also inspire a greater transparency in the future use of NDBS samples.

U2 - 10.1038/s41431-018-0276-2

DO - 10.1038/s41431-018-0276-2

M3 - Journal article

C2 - 30287898

SN - 1018-4813

VL - 27

SP - 203

EP - 210

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -