Study design with responsible return of results for a fully remote genome sequencing study in individuals with Prader-Willi syndrome
Vrana-Diaz et al.
The finding, in our words
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.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
Singaporean women aged 40-69 showed significant preferences for sample type, pretest discussion provider, and out-of-pocket cost when considering SNP gene testing for breast cancer screening. Tailoring genetic testing to patient preferences may improve uptake, highlighting that acceptability of self-collected buccal swab and dried blood spot samples is crucial for decentralised screening programmes.
Wong et al., Patient preference and adherence · source ↗
The study found that although participants preferred patient-centric microsampling devices for home use, the agreement with venous plasma for measuring CRP and cytokines was inconsistent, indicating that further validation is required before these methods replace standard venipuncture.
In a pilot mixed-methods study of youth with HIV, mailed HemaSpot-HF kits enabled home-based dried blood spot collection that participants found feasible and acceptable, supporting remote viral load monitoring and a self-management model for decentralised care.
Gurung et al., AIDS and behavior (paywalled) · source ↗
In a study of 46 perinatal nicotine users, dried blood spots and saliva were used weekly to measure reproductive hormones, finding that lower postpartum estradiol and greater peripartum declines in oxytocin were associated with increased nicotine craving and use. This demonstrates the feasibility of decentralised microsampling and remote surveys for longitudinal hormone tracking in vulnerable populations.
Allen et al., Drug and alcohol dependence reports (paywalled) · source ↗
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 ↗