The MOSAICC study: Assessing feasibility for biological sample collection in epidemiology studies and comparison of DNA yields from saliva and whole blood samples
James et al.
The finding, in our words
Both blood and saliva collection methods produced sufficient DNA for genotyping, with saliva using Oragene kits being less invasive and more acceptable for participants who declined blood draws, supporting its use in decentralised research settings
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
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.
Telomere length measurements vary significantly depending on the sample type used, with Oragene saliva showing a moderate correlation to venous buffy coat, whereas Oasis saliva and dried blood spots did not yield comparable or adequate results for this assay.
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.
Among 148 Marshallese adults recruited through community-based participatory research, 95.5% provided a 2 mL saliva specimen using an Oragene DNA self-collection kit and 96.6% agreed to future contact, demonstrating high acceptability of patient-centric, decentralised genetic sampling in an underserved population with disproportionate type 2 diabetes burden.
With Oragene DISCOVER self-collection, saliva SNP-array genotypes matched blood at 99.996% concordance; about 6% of samples failed on low yield, so an occasional repeat should be expected.