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Diagnostics Today? Whatever it Takes

December 5, 2020

Dr. Selby presents her talk, “Expanding Clinical Roles
for Viscoelastic Testing.”

“Alone we can do so little; together we can do so much.” — Helen Keller

As physicians, we have all been there — an hour into a patient encounter, feeling our patience waning and sensing the growing backups in the waiting room as we try to explain the limitations and ambiguity of medicine to a patient who doesn’t care about the science. They just want to know why they’ve spent two weeks in the hospital, why they have to continue their low-molecular-weight heparin shots, why they no longer feel like themselves. It can be a frustrating and rather dark place. And it can feel like failure. Despite rigorous testing and countless “normal” test results, we know something isn’t right just as well as they do. But despair no longer. Into that dark place now shines a fervently brightening light, as the past decade has brought about an explosion in clinical diagnostics, clinically applicable genetic testing, and novel therapeutic approaches. You no longer need flounder in idiopathic darkness. A new light is shining, and you may just find its source here at the ASH annual meeting.

Dr. Michele Lambert of Children’s Hospital of Philadelphia chairs an exciting Education Program session “Advances in Laboratory Assessment of Hemostatic and Thrombotic Disorders” (live Q&A Saturday, December 5, at 7:30 a.m. Pacific time). Tune in to learn of the endless efforts that have brought innovation in diagnosis and care to this unique population of patients.

The session opens with Dr. Johanna Kremer Hovinga of the University of Bern who will tackle the all-mighty schistocyte, the deleterious disease states associated with it, and how to keep calm and carry on as the treating physician. When asked what excites her the most about this topic, Dr. Kremer Hovinga ardently replied, “the transformation thrombotic thrombocytopenic purpura  has seen from the 1980s until now — initial therapies produced survivors, the unraveling of the pathophysiology has helped to identify patients at risk of relapse — the new drugs that are improving patient survival, but also the patient perspectives, and their morbidities.” She reviews the clinical presentation and laboratory assessment used to aid in the diagnosis of patients with microangiopathic hemolytic anemias with thrombocytopenia, as well as the specialized testing that is used to confirm the final diagnosis. Additionally, Dr. Hovinga dissects treatment tactics when confirmatory diagnostic testing is not immediately available to the treating institution.

Dr. Lambert takes us on a tour of how worldwide collaboration has brought insight into the ways identifying pathogenomic gene variants can aid in the diagnosis of patients with hemostatic and thrombotic (HT) disorders. She will discuss the progressive efforts of ClinGen, started through the National Institutes of Health, and how this pool of experts identifies pertinent genes and defines certain variants as benign or pathologic. For the hematologist, it is imperative to understand how to interpret results and apply them to a unique treatment plan, specifically with variants of unknown significance. Dr. Lambert says of this new era in HT management, “The new information we have in genetic and genomic testing has allowed us a better understanding of the underlying biology of diseases, which will allow us to reach the point of targeted therapies for many of the hematologic and thrombotic disorders.”

A more than 50-year-old technology, viscoelastic assays (VEAs) permit a clinician to have a global perspective of coagulation. In this session, Dr. Rita Selby of the University of Toronto briefly discusses these assays, including thromboelastography and rotational thromboelastometry, and how they compare to standard laboratory hemostasis assays. With an increasingly high level of excitement surrounding these assays, she appraises the evidence supporting their utility, while also bringing a word of caution about appropriate use, as there remains a lack of standardization in many areas of clinical medicine. “As hematologists, there is often a lot of peer pressure to apply these assays in the clinical setting; this session will give a good understanding of the technology, and even if used without level 1 evidence in some areas, it will give the physician a road map on how to do it right,” she explains. Viewers will receive a step-by-step approach that aims to implement the test safely, assure quality results, and explore the use of VEAs in areas of clinical medicine not currently supported by large clinical trials.

Hearkening back to the words of Helen Keller, this Education Program session will surely expand our knowledge in diagnostic testing of HT disorders and facilitate a team mentality within the HT community, encouraging all to join the collaboration to discover new resources and make them widely accessible.

Dr. Regling and Dr. Glaros indicated no relevant conflicts of interest.

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