One of the great things about working in the haemostasis testing and diagnostic sector is that it is so dynamic and fast-paced. New developments are appearing all the time, bringing exciting possibilities for our industry and the future of service delivery.
There have been two particularly interesting clinical developments in recent times that could result in seismic changes for our industry in the fields of diagnostics and blood clotting.
The issue of whether unexplained bleeding or clotting disorders in patients stems from genetic or non-genetic factors has been a long-standing diagnostic issue for Clinical Haematologists.(1) Pioneering work in the 1980s which characterised the genes encoding factor VIII, factor IX, and von Willebrand factor provided a crucial breakthrough in the genetic analysis of haemostasis conditions. (1)
Back in 2004, the World Health Organization created international standards for common genetic tests to reflect high levels of clinical demand, beginning with factor V Leiden. A breakthrough study came in 2016, by the ThromboGenomics, which led to the discovery of many new genes with potential roles in haemostasis and platelet function. (1)
This work was subsequently updated by Downes et al., who identified a genetic diagnosis in 37.3% of all patients.(2) Interestingly, the likelihood of establishing a genetic diagnosis was a function of the disease phenotype. (2) The highest diagnostic rate was seen in patients with coagulation disorders (63.6%), the second-highest was thrombotic disorders (48.9%), closely followed by thrombocytopenia (47.8%), and platelet function defects (26.1%) and lastly by unexplained bleeding (3.2%).(2) This isn’t just an academic point and has the potential to transform anticoagulation testing and could represent a quantum leap forward for the industry.
The ThromboGenomics HTS panel is the most comprehensive next generation sequencing (NGS) test available for the clinical study of patients with haemostatic or platelet disorders. (1) This has the potential to revolutionise the way clinicians assess and support patients with coagulation, platelet, or thrombotic disorders. (1)
In addition to these diagnostic breakthroughs, there have also been important developments in the field of blood clotting techniques. A joint research project, undertaken by the University of Exeter and the British Heart Foundation in 2019, proposed new techniques for measuring the formation of blood clots and free radicals. (3)
Free radicals are the technical term given to the unstable molecules containing unpaired single electrons seeking to pair up. The formation of free radicals results in the build-up of blood clots. As we all know, the build-up of clots can lead to the development of serious health conditions such as heart disease, strokes, dementia, and inflammation-related conditions like arthritis.
New measurement techniques involve a state-of-the-art method of detecting free radicals. This is based on an innovative combination of electron paramagnetic resonance and blood cell aggregometry to measure blood clotting. (3) This has the potential to yield practical benefits for the sector, such as the development of new drugs and testing methods to tackle blood clotting diseases in patients.
The proposed new techniques represent a potentially significant step forward for the sector and should be closely monitored by anyone working in haemostasis diagnostics.