2018 · Patient preference and adherence · open access
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.
The finding, in our words
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.
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.
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.
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.
Self-collection of dried blood spots in the home was feasible for healthy youth, with 82% consenting to provide a sample in the lab and 75% of those willing to self-collect at home, and DNA extraction quality was high across demographic groups.
This review surveys published LC-MS/MS methods that use dried blood microsampling for therapeutic drug monitoring of immunosuppressants in transplantation, chemotherapy and autoimmune disease, finding that volumetric dried blood samples can replace conventional venous draws for home sampling and improve patient quality of life. The authors discuss pre-analytical considerations, clinical applicability, cost-effectiveness, harmonisation gaps and patient perception, concluding that obstacles to routine clinical implementation remain despite growing methodological maturity.