Race, Ethnicity and Ancestry in Unrelated Transplant Matching for the National Marrow Donor Program: A Comparison of Multiple Forms of Self-Identification with Genetics.
We conducted a nationwide study comparing self-identification to genetic ancestry classifications in a large cohort (n = 1752) from the National Marrow Donor Program. We sought to determine how various measures of self-identification intersect with genetic ancestry, with the aim of improving matching algorithms for unrelated bone marrow transplant. Multiple dimensions of self-identification, including race/ethnicity and geographic ancestry were compared to classifications based on ancestry informative markers (AIMs), and the human leukocyte antigen (HLA) genes, which are required for transplant matching. Nearly 20% of responses were inconsistent between reporting race/ethnicity versus geographic ancestry. Despite strong concordance between AIMs and HLA, no measure of self-identification shows complete correspondence with genetic ancestry. In certain cases geographic ancestry reporting matches genetic ancestry not reflected in race/ethnicity identification, but in other cases geographic ancestries show little correspondence to genetic measures, with important differences by gender. However, when respondents assign ancestry to grandparents, we observe sub-groups of individuals with well- defined genetic ancestries, including important differences in HLA frequencies, with implications for transplant matching. While we advocate for tailored questioning to improve accuracy of ancestry ascertainment, collection of donor grandparents' information will improve the chances of finding matches for many patients, particularly for mixed-ancestry individuals.
Department of Neurology, University of California, San Francisco School of Medicine, San Francisco, California, United States of America.
Jill A
JA
Hollenbach
Department of Sociology, Stanford University, Stanford, California, United States of America.
Aliya
A
Saperstein
Bioinformatics Research, National Marrow Donor Program, Minneapolis, Minnesota, United States of America.
Mark
M
Albrecht
Center for International Blood and Marrow Transplant Research, Minneapolis, Minnesota, United States of America.
Cynthia
C
Vierra-Green
Department of Structural Biology, Stanford University School of Medicine, Stanford, California, United States of America; Department of Microbiology & Immunology, Stanford University School of Medicine, Stanford, California, United States of America.
Peter
P
Parham
Department of Structural Biology, Stanford University School of Medicine, Stanford, California, United States of America; Department of Microbiology & Immunology, Stanford University School of Medicine, Stanford, California, United States of America.
Paul J
PJ
Norman
Bioinformatics Research, National Marrow Donor Program, Minneapolis, Minnesota, United States of America.
Martin
M
Maiers
D000328:Adult; D001853:Bone Marrow; D016026:Bone Marrow Transplantation / Q000379:methods; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005826:Genetics, Medical / Q000379:methods; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D008297:Male; D044469:Racial Groups / Q000235:genetics*; D014019:Tissue Donors; D066027:Transplant Recipients
D006680:HLA Antigens