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

Abstract

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.

Parental perspectives on retention and secondary use of neonatal dried bloodspots: a Dutch mixed methods study

“…Bombard et al (2012) emphasized it is especially of great importance to improve transparency about retention and secondary use of NDBS towards the public [30]. To improve transparency Nordfalk and Ekstrøm (2019) performed a scoping study on the frequency and purpose of secondary use of NDBS in Denmark [31]. Rothwell et al (2018) performed an international scoping review on the number, types, and designs of research using NDBS [32].…”

Assessment of dried blood spots for DNA methylation profiling

“…In Denmark, research access to Guthrie cards is possible through the Danish Newborn Screening Biobank 15 and in 2017 it was estimated that almost 40% of the 2.1 million samples stored in this biobank had contributed to published research 16 . In Scotland, however, a moratorium on research access to Guthrie cards was imposed in 2009 and remains in place pending a public consultation 17 .…”

The Mutual Enablement of Research Data and Care

“…All research projects using Danish NDBS samples must be approved by both the national research ethics committee and by the steering committee for the neonatal screening biobank (Nørgaard- Pedersen and Hougaard, 2007; The National Committee on Health Research Ethics, 2020). The estimated use of the Danish NDBS samples for research purposes has been documented earlier (Nordfalk and Ekstrøm, 2019).…”

“…It is also possible to do research on the samples in conjunction with the screening, even before they are put in the freezer. However, the majority of samples are frozen before being used for research (Nordfalk and Ekstrøm, 2019). In that case, the first step for the researcher is to gain approval to use the samples from the national research ethics committee as well as by the steering committee at the neonatal screening biobank.…”