[Clinical significance of comprehensive genomic profiling in hematopoietic failure].

This review outlines the clinical significance of comprehensive genomic profiling (CGP) in patients with hematopoietic failure, including severe unexplained cytopenia. Since March 2025, Japanese National Health Insurance has covered CGP for hematologic malignancies and related disorders, facilitating a genome-based precision medicine approach that complements conventional clinical approaches, including morphologic and cytogenetic analyses. In bone marrow failure phenotypes, CGP supports differentiation of aplastic anemia from myelodysplastic syndromes and related diseases by evaluating genetic alterations. In addition to diagnosis, CGP contributes to prognostic stratification and evaluation of inherited bone marrow failure syndromes, which may present with minimal extra-hematologic features. However, accurate interpretation of CGP results requires not only understanding the genetic pathology of each disease, but also awareness of the characteristics of the CGP and the pitfalls specific to hematopoietic diseases (such as clonal hematopoiesis) and discussions with an expert panel. This review aims to facilitate the interpretation of CGP results to optimize clinical management for patients with hematopoietic failure.