HAEMOPHILIA AND OTHER CONGENITAL COAGULOPATHIESThe role of genetics in the diagnosis and treatment of haemorrhagic diathesis: a historical perspectiveFernández, María Fernanda López Author Information Hematology and Hemotherapy Service, University Hospital of La Coruña, A Coruña, Spain Correspondence to María Fernanda López Fernández, Hematology and Hemotherapy Service, University Hospital of La Coruña, A Coruña 15006, Spain E-mail: [email protected] Received 15 July, 2021 Accepted 5 October, 2021 Blood Coagulation & Fibrinolysis: January 2022 - Volume 33 - Issue - p S17-S18 doi: 10.1097/MBC.0000000000001096 Buy Metrics Abstract The rapid development of genetic studies, not only in haemophilia but also in other congenital coagulopathies and platelet-related alterations, has been made possible by massive sequencing (e.g. next-generation sequencing or NGS), which allows a rapid and automatic analysis of the whole gene, simultaneous study of several genes and multiple individuals, detection of genetic variants and the possibility to create personalized panels . The new technologies have also changed the way results are evaluated. Currently, our interest goes beyond the study of carriers, extending to the relationship between the mutation and the risk of developing an inhibitor and the latter's role in the classification of diseases . There is also great interest in understanding the genotype/phenotype relationship, analytical discrepancies and variations in the response to treatment . Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.