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Molecular diagnostics 101: how to use genetic tests in classical hematology
Andrés Caballero-Oteyza1, Miranda Di Biase2, Xiao P Peng3,4
1Center for Immunodeficiency, University Hospital Freiburg, Satellite Center RESiST-Cluster of Excellence 2155, Hanover Medical School, Hanover, Germany.
Hematology. American Society of Hematology. Education Program
|December 5, 2025
Summary
Genomic assays have advanced our understanding of disease, driving molecular medicine. This review guides hematology providers in using genomic tools alongside other data for better patient care.
Area of Science:
- Genomics and Molecular Medicine
- Hematology
Background:
- Clinical diagnostic genomic assays have significantly expanded disease understanding over 20 years.
- Genomics provides insights into disease pathobiology and genetic mechanisms, advancing molecular medicine.
Purpose of the Study:
- To guide hematology providers on the strategic use and interpretation of genomic tools.
- To integrate genomic information with existing clinical data and evolving genetic concepts.
Main Methods:
- Review of current literature on clinical genomics in hematology.
- Synthesis of information on genomic assay applications and interpretation.
Main Results:
- Genomic assays enhance understanding of disease spectrum and genetic landscape.
- Integration of genomics offers new paradigms for diagnosing and managing hematologic conditions.
Conclusions:
- Hematology providers can leverage genomics for improved diagnostic strategies.
- Understanding evolving genetic concepts is crucial for effective application of genomic tools in clinical practice.
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