Genomic Studies in Blood and Marrow Transplantation (GS-BMT): An NCI-CIBMTR genomic medicine initiative in hematopoietic cell transplantation

GS-BMT genotyping and profiling across 30,718 donor-recipient pairs in allogeneic hematopoietic cell transplantation (2000–2019) enables genomic risk analyses in AML and donors.

• Why it matters: Genomic studies in HCT have been constrained by limited sample sizes and reliance on targeted assays, limiting recipient and donor risk modeling.
• What they did: GS-BMT generated genome-wide SNP-array data for all samples and sequencing plus methylation profiling for selected subsets, including 9,262 AML patients and 19,750 donors.
• The result: In AML, clinical variables yielded modest overall survival prediction with similar C-index values (0.63, 0.62, 0.62) across model types, and donor CHIP-PGS was lower in unrelated versus related donors (-0.06 SD; p=0.002).

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