Influence of genetic polymorphisms on serum biomarkers of cardiac health
Krishnamurthy et al.
The finding, in our words
This study of 184 individuals showed that home collection of dried blood spots and saliva can identify genetic polymorphisms linked to cardiac serum markers. Seven SNPs associated significantly with markers such as Apo B, LDL Direct, and hsCRP, while a polygenic risk score correlated strongly with NT-proBNP (r²=0.82, P=.03) and ox-LDL (r²=0.94, P=.005). These results indicate decentralised genetic sampling could enable early cardiovascular risk assessment and identify patients requiring closer serological monitoring.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
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.
Jaszczak et al., The journals of gerontology. Series B, Psychological sciences and social sciences (paywalled) · source ↗
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.
Vrana-Diaz et al., Genetics in medicine open · source ↗
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 ↗
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.
Heughebaert et al., Clinical chemistry and laboratory medicine (paywalled) · 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.