Race/Ethnicity Self-Identification Complicate Investigation of Link to Multiple Myeloma

More genetic information will likely be needed for any study attempting to investigate the links between racial ancestry and outcomes in patients with multiple myeloma (MM), according to a study presented at the 2022 American Society of Hematology Annual Meeting.

Patrick Blaney, MS, of Perlmutter Cancer Center, NYU Langone Health, in New York, and colleagues investigated the mutational basis of MM and how it varied based on racial origin.

They conducted two large studies—Polyethnic-1000 and Smoldering Myeloma Registration Trial (SMRT)—and examined a cross-sectional series of whole genome sequencing and whole exome sequencing data from cases with smoldering MM and MM.

Patients in the studies self-identified race/ethnicity. The researchers built an admixture workflow into the sequencing analysis pipeline to address variability in origin from within the MM cases ranging from regions of Europe to subsets of cases with African, North/South American, and Asian origin.

There were discrepancies between patients self-reported race and the genetically determined admixture composition. For example, 75% of patients self-identified as white, but 7% of these patients had a genetic composition that included 10% or more contribution from African, North/South American, or Asian ancestry.

In addition, 18% of patients self-identified as Black or African American, but half of these cases had greater than 10% contribution from European, North/South American, or Asian ancestry.

“These results demonstrate the underlying genetic heterogeneity in a population that is currently clinically classified as the homogenous and thus lead to skewed evaluations of race and outcome in MM,” Dr. Blaney and colleagues noted.

These findings emphasize “the need for complementary genetic admixture with racial self-identification when investigating the links between racial ancestry and outcomes in MM.”

Reference

Blaney P, Boyle EM, Maclachlan KH, et al. Variability in pattern of mutational signatures in multiple myeloma as a function of racial origin. Abstract #174. Presented at the 64th American Society of Hematology Annual Meeting, December 10-13, 2022; New Orleans, Louisiana.