Leveraging community-based participatory research capacity to recruit Pacific Islanders into a genetics study

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

In a one-week virtual home clinic with 134 participants, 86 per cent returned saliva and 84 per cent returned stool, and most components were feasible and acceptable despite device and logistical challenges. This supports decentralised, patient-centric self-collection of non-blood biospecimens for research.

Collecting at-Home Biometric Measures for Longitudinal Research From the i3C: Feasibility and Acceptability Study — Russell et al., JMIR human factors · source ↗

• dct
• acceptability
• self-collection
• microbiome
• stool
• saliva
• genotyping

Self-collected saliva samples provided adequate DNA for genotyping in preterm birth research, though questionnaire data on birth details had limited concordance with prospective records, indicating that while DNA sampling is feasible via post, phenotyping requires more reliable data collection methods for genetic studies.

Postal recruitment for genetic studies of preterm birth: A feasibility study — Keag et al., Wellcome open research · source ↗

• dct
• dna-genotek-oragene
• self-collection
• liquid
• saliva
• genotyping

Using the Oragene DNA self-collection kit, this study found no significant difference in CNTFR genotype frequencies between weightlifters, 56% CC, 32% CT and 12% TT, and controls, 53% CC, 40% CT and 7% TT. However, the CT+TT genotype was associated with higher relative performance, though the cross-sectional design limits causal inference.

Ciliary Neurotrophic Factor Receptor rs41274853 Polymorphism Is Associated With Weightlifting Performance in Japanese Weightlifters — Homma et al., Journal of strength and conditioning research (paywalled) · source ↗

• saliva
• dna-genotek-oragene
• self-collection
• genotyping

Using a patient-centric saliva microsampling kit, the study found that genetic variants, VKORC1 and CYP2C9, and smoking explained 39.2% of warfarin dose variability in a Qatari population, supporting decentralised sampling for pharmacogenomic profiling.

The effect of genetic and nongenetic factors on warfarin dose variability in Qatari population — Bader et al., The pharmacogenomics journal (paywalled) · source ↗

• tdm
• dna-genotek-oragene
• self-collection
• saliva
• genotyping