How genetic advances are being translated into improved diagnostic outcomes for patients with inherited bleeding disorders Open Access

Inherited bleeding disorders are a heterogenous group of conditions characterized by the presence of abnormal bleeding. Currently, the diagnostic odyssey for patients with a suspected bleeding disorder is lengthy, costly, resource intensive, emotionally draining and often futile, as up to half of patients will remain without a clear diagnosis. Genetic testing has been suggested as a possible remedy for these diagnostic challenges and is increasingly incorporated into clinical care. In this review, we outline three factors that contributed to the translation of genetic advances into improved diagnostic outcomes. These include the early success experienced with Hemophilia, advances in genetic sequencing technology, and significant investment by the hemostasis scientific community. We also identify three areas for improvement to facilitate ongoing translation highlighting the need to optimize integration of genetic and genomic testing into diagnostic pathways, improve variant classification through ongoing research and curation efforts, and reconsider whether incidental and secondary findings represent a disadvantage or an opportunity.