2026 · American journal of human genetics · paywalled
International experiences of genomic newborn screening: Lessons from over 10,800 newborns
Stark et al.
The finding, in our words
Across four international studies evaluating genomic newborn screening in over 10,800 infants, dried blood spots reliably supported DNA extraction for integration into screening workflows. The screen-positive rate ranged from 1.6% to 3.7%, with glucose-6-phosphate dehydrogenase deficiency emerging as the most prevalent condition.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
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 ↗
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.
This systematic review of 67 studies involving 34,739 kidney disease patients found dried blood microsampling was mainly used for immunosuppressant therapeutic drug monitoring and kidney function assessment. The approach offered cost savings, was preferred by patients for home self-collection, and provides a patient-centric opportunity to upscale longitudinal sampling and reduce participation bias in decentralised kidney disease research.
Lamond et al., Journal of clinical laboratory analysis · source ↗
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.
A targeted NGS panel using dried blood spots achieved 100% concordance with Sanger sequencing in detecting pathogenic variants across 32 samples, with average coverage of 596X. This validates microsampling for decentralised newborn screening programmes, enabling accurate genetic diagnosis from minimally invasive specimens.
Peng et al., JPMA. The Journal of the Pakistan Medical Association (paywalled) · source ↗