Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study
Lunke et al.
The finding, in our words
Whole-genome sequencing of dried blood spots from 1,000 newborns identified 16 infants with high-chance results, most missed by standard screening. The 13-day turnaround and high parental acceptability show a feasible, scalable model for decentralised genomic screening.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
Self-collection of dried blood spots in the home was feasible for healthy youth, with 82% consenting to provide a sample in the lab and 75% of those willing to self-collect at home, and DNA extraction quality was high across demographic groups.
This review establishes that microsampling across blood, saliva, urine and stool matrices offers validated workflows and regulatory recognition for human biomonitoring comparable to conventional methods. It finds that these decentralised approaches enhance participant acceptability and enable screening in remote or low-resource settings.
Dried blood spot collection proved feasible during parabolic flight, with seventeen of twenty volunteers successfully providing samples for caffeine pharmacokinetic profiling. The method yielded stable metabolic ratios between ground and weightless conditions, and participants reported high satisfaction, suggesting DBS could support therapeutic drug monitoring in remote or extreme environments such as long-term spaceflight.
Derobertmasure et al., British journal of clinical pharmacology · source ↗
This study demonstrated that a fully remote genome sequencing study using self-collected dried blood spots and buccal swabs is feasible for individuals with Prader-Willi syndrome, with all participants completing the study and reporting the process was easy despite being lengthy. The design successfully returned actionable genetic findings, including those related to blood clot formation, to participants.
Vrana-Diaz et al., Genetics in medicine open · source ↗
A term newborn died at 4 days; newborn screening by tandem mass spectrometry on a dried blood spot indicated mitochondrial trifunctional protein or long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, and genetic analysis of the same DBS identified two HADHA variants, confirming the diagnosis; the authors review early neonatal deaths from fatty acid oxidation disorders and discuss limitations of newborn screening for these conditions, highlighting the role of DBS-based screening and post-mortem genetic testing in decentralised diagnostics.
Drole Torkar et al., International journal of neonatal screening · source ↗