2020 · International journal of neonatal screening · open access
Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders
Moat et al.
The finding, in our words
Dried blood spot specimens collected by finger prick at home are widely used for monitoring inherited metabolic disorders, with modern mass spectrometry enabling sensitive and timely analysis. Understanding pre-analytical, analytical and post-analytical variables is crucial for reliable decentralised diagnostics and prompt therapy adjustment.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
An optimized 4D-lipidomics UHPLC-HRMS protocol using stable isotope internal standards enabled semi-quantitative profiling of 432 unique lipid features from 10 ̢L dried blood spot samples with high analytical reproducibility. The workflow demonstrates the viability of capillary blood microsampling for large-scale, remote population lipidomics and metabolic profiling.
Microsampling enables less invasive, patient-centric self-collection of capillary blood for remote monitoring of metabolites and lipids, overcoming conventional venipuncture constraints. Recent device innovations address dried blood spot limitations, particularly haematocrit and volume variations, expanding decentralised applications in population health, drug discovery and multi-omics research.
Finger-prick dried blood spots from 60 individuals provided sufficient sample for chromatographic determination of 20 amino acids, 5 keto acids and 24 fatty acids, with several analytes showing significant gender and age dependencies. This validates home self-collection for metabolic screening as a viable alternative to venous blood draw in decentralised diagnostics.
In AML and CLL, 91% of VAMS venetoclax results fell within 20% of plasma after individualised haematocrit correction; in home sampling, 18 of 21 patients self-sampled independently and 76% of returned samples were analysable, which shows home microsampling is workable, though the authors ask for multicentre validation.
This review found that volumetric microsampling devices, such as Mitra, HemaPEN, HemaXis DB10, and Tasso-M20, overcome haematocrit bias, whilst Telimmune plasma separation cards enable direct plasma collection without centrifugation. These technologies support patient-centric, decentralised sampling, though the authors note that clinical validation remains limited across different drugs and patient populations.