Abstract
Clinicians and scientists in the fields of hemostasis and thrombosis have been among
those first to integrate new molecular strategies for the purpose of enhancing disease
diagnosis and treatment. The molecular diagnosis and introduction of gene therapy
approaches for hemophilia are obvious examples of this tendency. In this review, the
authors summarize information concerning three molecular technologies that have reached
various stages of translational potential for their incorporation into the clinical
management of disorders of hemostasis. Chromatin conformation assays are now being
used to capture structural knowledge of long-range genomic interactions that can alter
patterns of gene expression and contribute to quantitative trait pathogenesis. Liquid
biopsies in various forms are providing opportunities for early cancer detection,
and in the context of tumor-educated platelets, as described here, can also characterize
tumor type and the extent of tumor progression. This technology is already being trialed
in patients with unprovoked venous thrombosis to assess the potential for occult malignancies.
Lastly, advances in single cell transcriptome analysis, provide opportunities to definitively
determine molecular events in rare cells, such as antigen-specific regulatory T cells,
within the context of heterogeneous cell populations.
Keywords
innovative molecular testing - chromatin conformation testing - liquid biopsies -
single cell sequencing
