Dr Keith Gomez
Royal Free London NHS Foundation Trust
Presentation Title: The laboratory investigation of suspected platelet function disorders
Dr Gomez will discuss the new British Society of Haematology guideline on the Clinical and Laboratory Diagnosis of Heritable Platelet Disorders in Adults and Children. This guideline replaces the previous one published in 2011 on laboratory diagnosis of heritable disorders of platelet function. The remit has been expanded to include clinical diagnosis and heritable thrombocytopenia under the overarching term: heritable platelet disorder (HPD). Acquired disorders such as immune thrombocytopenia and drug-induced platelet dysfunction are not covered.
Since the previous guideline there have been significant advances in the clinical assessment of HPD. For example, bleeding assessment tools have been developed to standardise clinical evaluation and provide a quantitative analysis of bleeding symptoms. A major laboratory advance has been in the use of high-throughput sequencing which is now available in routine clinical practice in the UK. As a result there has been a large increase in distinct HPD with a better understanding of their underlying molecular basis and clinical effects. While these are individually rare disorders, collectively HPD comprise 10% of registered cases in the National Haemophilia Database, the fourth most common group of disorders after von Willebrand disease, haemophilia A and factor XI deficiency.
This presentation will focus on the key recommendations for the laboratory diagnosis of HPD and cover standards for aggregometry, assessment of platelet count and size, point of care testing, quality assurance and genomic testing.
Dr Keith Gomez trained at St Thomas’ Hospital Medical School, University of London, and graduated in 1992. After studying haematology in the North London training programme he joined the Haemostasis Research Group at the Medical Research Council in London. The primary area of research for his doctoral thesis was the development of models of tissue factor-initiated coagulation.
After award of his PhD Dr Gomez took up his current post as Consultant and Associate Professor in Haemostasis in the Haemophilia Centre and Thrombosis Unit at the Royal Free Hospital in London. His main research interests include the genetic basis of inherited disorders of coagulation, the diagnosis and management of platelet disorders and the clinical management of the rarer factor deficiencies.
Current positions held:
Chair of the Haemostasis and Thrombosis Task Force for the British Society of Haematology
Past-President of the British Society of Haemostasis and Thrombosis
Chair of the UKHCDO Genetics Working Party
Co-chair of the ISTH SSC for Genomics in Thrombosis and Haemostasis