Applying the principles of precision medicine to hematologic diseases is a priority for ASH. Precision medicine encompasses all approaches that use patient- and disease-specific information to prevent, diagnose, and treat a disease. The increasingly widespread use of genome sequencing and genomic profiling has significantly improved the diagnoses and treatment of hematologic diseases by identifying unique variants that can be targeted with gene-based targeted therapeutic approaches including immunotherapies.
The Task Force on Precision Medicine is continuing its partnership with the NIH-funded Clinical Genome Resource (ClinGen) for annotation of germline variants relevant to hematology. The task force’s somatic working group continues with the development of precision medicine resources for the physician community. The goal of the effort with ClinGen is to improve the accuracy of prognostic and diagnostic genetic tests by assigning clinical significance to known variants of genes relevant to these disorders. Lucy Godley, MD, PhD, and David Wu, MD, PhD, are leading an expert panel focusing on predisposition to myeloid malignancies, and Jorge Di Paola, MD, and Wolfgang Bergmeier, PhD, are leading an expert panel focusing on hereditary platelet disorders.
The predisposition to myeloid malignancies expert panel completed its definition of the rules described by the American College of Medical Genetics and Genomics to the first gene that they are curating (RUNX1). In October 2016 the panel was able to publish their first set of recommendations in Blood Advances.
The hereditary platelet disorders panel is finalizing the rules for ITGA2B and ITGB3 receptor genes which have a deficiency involved in Glanzmann’s thrombocytopenia. This panel anticipates submitting an article for publication on the curation rules in the fall of 2019.