Tonight, I watched the London Calling 2019 session by Anna Schuh from the University of Oxford in the UK. The title of the presentation was “Global applications of nanopore sequencing in clinical haematology.” Schuh explained that blood cancers are challenging to treat and that patients would benefit from precision medicines. Chronic myeloid leukemia was the first to be characterized genetically at the level of chromosomal mutations, noted Schuh. International sequencing efforts have identified translocations, single-nucleotide variants, and genetic abnormalities for various cancers. Treatments are revolutionizing patient care for various cancers. Schuh explained that third-generation sequencing with Nanopore sequencing has enabled “diagnostic whole genome” in a kit. Shallow whole genome sequencing combined with targeted deep sequencing is a powerful combination for diagnostics. Sickle cell disease is the most common monogenetic blood disease. Sickle cell disease is typically diagnosed with protein-based testing. However, diagnostic efforts are complicated in neonatal cases. Thus, Schuh has developed a CRISPR-based system for targeted Nanopore sequencing. Cell-free plasma DNA approaches are straightforward and can be used for prenatal diagnosis or liquid biopsies. Schuh’s team developed a non-invasive method with excellent test performance. Schuh also explained that EBV-driven lymphomas account for 95% of all childhood lymphomas worldwide in sub-Saharan Africa! Diagnosis is challenging, and lack of access to pathology expertise is an issue. Schuh is using liquid biopsies to detect lymphoma-specific mutations from peripheral blood. Schuh concluded by emphasizing the need for diagnostic whole genome sequencing for diagnostics and more affordable liquid biopsies.
