Insights to Provider Practice of Germline Testing for Inherited Hematologic Malignancy Predisposition Syndromes to...

Genomic characteristics play a critical role in the diagnosis, prognosis, and treatment of hematologic malignancies such as myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). Germline profiling of MDS/AML patients who are candidates for allogeneic hematopoietic stem cell transplant (allo-HSCT) can identify inherited monogenic risk mutations, which can guide therapy selection and donor compatibility. Guidelines exist to suggest which allo-HSCT candidates should undergo germline testing. However, the rate of execution of this testing by transplant centers, as well as the perceived practicality of its implementation, have not been evaluated. This study aims to describe the current state of programmatic germline testing for individuals treating MDS/AML patients who are allo-HSCT candidates. Through a cross-sectional survey, we analyzed provider perspectives on genetic counseling services, institutional and current practice guidelines, and insights to germline testing for this patient population. A total of 21 participants completed the survey, most of whom were bone marrow transplant (BMT) coordinators (52.4%) from academic centers (66.7%). While 85.7% of participants reported offering germline evaluation/testing, practices varied widely across centers, with no standardized protocols for patient selection or sample collection. Provider comfort in discussing germline testing implications was variable and often limited, particularly among non-genetics providers, highlighting potential gaps in genetics training. Key barriers included inconsistent guidelines, insurance challenges, and limited provider awareness. Facilitators included collaboration with genetics services-especially genetic counselors-and involvement of BMT physicians and advanced practice providers to support appropriate and timely testing. Standardizing germline testing in HSCT for hematologic malignancies is essential, with sample type and timing as key barriers. We propose integrating routine skin punch biopsy with bone marrow biopsy for patients meeting National Comprehensive Cancer Network criteria for germline testing to streamline cell culturing and sequencing alongside allo-HSCT planning. Involving the BMT team in early referrals and integrating a genetic counselor could improve coordination, address insurance and turnaround challenges, and ensure that patients receive timely, actionable genetic insights for their personalized care.