Germline Testing in Hematopoietic Malignancies

Germline predisposition to hematopoietic malignancies is identified increasingly in individuals with myeloid or lymphoid malignancies, with guidelines expanding quickly. The gold standard for testing remains DNA derived from skin fibroblast culture combined with chromosome breakage studies and telomere length testing if appropriate depending on personal/family history. Testing should be performed expeditiously as results may take up to three months. A high index of suspicion identifies affected individuals, allowing for optimal treatment plans, selection of hematopoietic stem cell donors, ability to enroll in screening programs, and guidance for cascade testing of potentially affected family members.