At-home dried blood spot (DBS) collection to increase population heterogeneity representation in pediatric research: An ECHO study

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.

Feasibility of dried blood spot collection for caffeine pharmacokinetic studies in microgravity: Insights from parabolic flight campaigns — Derobertmasure et al., British journal of clinical pharmacology · source ↗

• blood
• dried
• dbs
• self-collection
• acceptability
• tdm
• genotyping

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.

Study design with responsible return of results for a fully remote genome sequencing study in individuals with Prader-Willi syndrome — Vrana-Diaz et al., Genetics in medicine open · source ↗

• blood
• saliva
• dried
• dbs
• self-collection
• acceptability
• dct
• genotyping

Dried blood spot sampling matched venous serum performance for islet autoantibody detection and was considered minimally invasive and convenient by parents and stakeholders, supporting its use for decentralised screening in home or community settings.

Establishing the performance and acceptability of dried blood spot sampling to screen for islet-specific autoantibodies — Faustini et al., Diabetic medicine : a journal of the British Diabetic Association · source ↗

• blood
• dried
• capillary
• dbs
• self-collection
• validation
• venous-agreement
• acceptability
• pediatric

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.

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study — Lunke et al., Nature medicine · source ↗

• blood
• dried
• dbs
• acceptability
• pediatric
• genotyping

Primary caregivers of children with metabolic disorders found at-home dried blood spot collection acceptable after training, which could enable more timely and cost-effective monitoring. This supports the feasibility of decentralised, patient-centric sampling for long-term condition management.

Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU) — Merencilla et al., Journal of community genetics (paywalled) · source ↗

• acceptability
• blood
• dbs
• self-collection
• dried
• pediatric