Secondary research uses of residual newborn screening dried bloodspots: a scoping review

Abstract

Purpose Residual newborn screening dried bloodspots (DBS) are a valuable resource for research but the extent, type, and nature of uses are unknown. The objective of this research was to systematically review the published literature about secondary research uses of residual DBS using a scoping review protocol. Methods A total of 654 publications meeting the inclusion criteria with a 94% interrater reliability were identified. A coding template was created with input from expert advisory board to summarize the data. Electronic literature search of Ovid MEDLINE, Embase (via Embase.com), CINAHL (EBSCO),and Science and Social Sciences Citation Indices (via Web of Science) was conducted. Results A large proportion of the secondary research with DBS was conducted within the United States (30%). The number of published studies utilizing DBS are increasing each year, primarily with observational or case–control designs. Only a small number of studies reported whether or not consent was obtained and if the DBS were identifiable or not. Conclusion Outcomes of this research indicate that residual DBS are well utilized worldwide for research addressing individual and public health issues. Future analyses will summarize outcomes of disease-specific research and provide evidence of the use of residual DBS in research on health outcomes.

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

“…DBS represent an invaluable resource for research aimed at elucidating the underlying etiology of human diseases, including birth defects, metabolic disorders, and congenital heart defects, and may be particularly suitable for newly available methods for whole genome sequencing (WGS). 1,6,12,13 Additionally, for infants who die shortly after birth, DBS may be resourced for investigation of the molecular cause of death. [14][15][16] DBS have numerous advantages over whole blood samples, including ease of transport, potential for storage at room temperature, cost effectiveness and feasibility of long-term storage without degradation of DNA.…”

Paediatric biobanking for health: The ethical, legal, and societal landscape

“…A scoping review of publications from 1973 to 2017 on research using dried blood spots from new-born screening programmes, revealed that 55% of studies originated outside the United States, with 7.4, 7.2, 6.1, 5.5, and 5.0%, respectively from the United Kingdom, Denmark, Italy, Germany, and Sweden ( 15 ). An estimated 37.5% of samples from the Danish New-born Screening Biobank, established in 1982, have appeared in publications of secondary research, with the first paper being published in 1991 ( 16 ).…”

Electronic informed consent information for residual newborn specimen research: findings from focus groups with diverse populations

“…The DBS biospecimens are similar to other clinical biospecimens, and can be used for a variety of clinical and research activities. As noted in the literature, a wide range of valuable research has been conducted using DBS (Rothwell et al 2019;Maschke 2008).…”