Influence of genetic polymorphisms on serum biomarkers of cardiac health

A US survey of 3,400 adults aged 62 to 90 collected up to 15 biomeasures at home, including saliva, dried blood spots and urine, with Salivette and Oragene among the devices used, which shows that several patient-centric sampling methods can run together in home-based research.

Continuity and innovation in the data collection protocols of the second Wave of the National Social Life, Health, and Aging Project — Jaszczak et al., The journals of gerontology. Series B, Psychological sciences and social sciences (paywalled) · source ↗

• actigraphy
• multimodal
• blood
• dbs
• cortisol
• dna-genotek-oragene
• self-collection
• dried
• bd-microtainer
• hormones
• liquid
• urine
• saliva
• biomarkers
• 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

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.

Women's preferences, willingness-to-pay, and predicted uptake for single-nucleotide polymorphism gene testing to guide personalized breast cancer screening strategies: a discrete choice experiment — Wong et al., Patient preference and adherence · source ↗

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

Capillary dried blood spots, after haematocrit-dependent conversion, showed good agreement with plasma for 25-hydroxyvitamin D quantification, with 90 per cent of results within 20 per cent of plasma and substantial to almost perfect agreement in status classification, supporting reliable home self-collection for large-scale vitamin D monitoring.

Clinical validation of a DBS-based LC-MS/MS method for 25-hydroxyvitamin D: from lab sampling to home sampling — Heughebaert et al., Clinical chemistry and laboratory medicine (paywalled) · source ↗

• venous-agreement
• blood
• dbs
• self-collection
• haematocrit
• dried
• capillary
• validation
• biomarkers

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.

Limited agreement of cytokines and CRP through patient-centric microsampling compared to venipuncture in healthy adults — Tuttle et al., Bioanalysis (paywalled) · source ↗

• dct
• venous-agreement
• acceptability
• blood
• dbs
• self-collection
• dried
• biomarkers