Diagnosis of haemophilia and other inherited bleeding disorders - Is a new paradigm needed?

The current paradigm for the diagnosis of haemophilia and other inherited bleeding disorders (IBDs) based on clinical assessment followed by screening tests and confirmation by assays of clotting factor levels or platelet functions is complex and cumbersome. These have been difficult to establish and standardize around the world for many reasons. Therefore, more than half of the expected number of people with these disorders in the world remain unidentified. A new approach is therefore needed. Use of validated bleeding assessment tools (BATs) offers an opportunity for standardized evaluation of clinically significant bleeding at the primary care level or even to be self-assessed. Advances in genetic evaluation of these disorders through gene panels covering a wide range of IBDs based on next generation sequencing (NGS) technology enable the identification of the primary defect in the haemostasis system with high degree of accuracy. These methods can be centralized and made highly cost-effective when done in large batches. The combination of high BAT score followed by NGS-based genetic diagnosis could be the new paradigm for the primary diagnosis of IBDs. This will need to be followed by confirmation with functional haemostasis tests, as required. This approach will increase rates of detection of the known common disorders many folds and reduce the burden on these families towards accessing facilities for accurate diagnosis and appropriate treatment based on that.