2020 · JPMA. The Journal of the Pakistan Medical Association · paywalled
A targeted gene capture next-generation sequencing panel for genetic screening of newborns
Peng et al.
The finding, in our words
A targeted NGS panel using dried blood spots achieved 100% concordance with Sanger sequencing in detecting pathogenic variants across 32 samples, with average coverage of 596X. This validates microsampling for decentralised newborn screening programmes, enabling accurate genetic diagnosis from minimally invasive specimens.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
DNA from dried blood spots extracted with a home-made buffer yielded more DNA than a commercial kit at similar quality, and duplex allele-specific qPCR accurately identified all HLA-DQ2 and DQ8 alleles in 558 children, reducing genotyping costs by 60 per cent for population-wide celiac disease and type 1 diabetes screening.
This review establishes that microsampling across blood, saliva, urine and stool matrices offers validated workflows and regulatory recognition for human biomonitoring comparable to conventional methods. It finds that these decentralised approaches enhance participant acceptability and enable screening in remote or low-resource settings.
The TaqPath kit performed well for HIV drug resistance testing from dried blood spots in samples with high viral loads, meeting WHO criteria for sensitivity and mutation detection, but showed reduced sensitivity at lower viral loads below 5000 copies/mL. This supports the use of DBS for decentralised HIV monitoring in resource-limited settings, though caution is needed when viral load is low.
A systematic review found mixed economic evidence for microsampling in therapeutic drug monitoring; one study reported no cost reduction with DBS home-sampling, €688 versus €676, whilst another predicted savings up to 61%. The authors caution that more work is required to assess costs alongside clinical outcomes and optimise logistics for decentralised implementation.
The study validated a method for measuring cystic fibrosis drugs in dried blood spots, showing statistical equivalence to plasma concentrations, which supports their use as a less invasive alternative for therapeutic drug monitoring. It also found higher drug levels in nasal swabs, indicating localised accumulation at the disease site, which could inform more personalised treatment.