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 matchin...

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Veröffentlicht in:PloS one 2015-08, Vol.10 (8), p.e0135960-e0135960
Hauptverfasser: Hollenbach, Jill A, Saperstein, Aliya, Albrecht, Mark, Vierra-Green, Cynthia, Parham, Peter, Norman, Paul J, Maiers, Martin
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creator Hollenbach, Jill A
Saperstein, Aliya
Albrecht, Mark
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Parham, Peter
Norman, Paul J
Maiers, Martin
description 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.
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subjects Adult
Algorithms
Bioinformatics
Biology
Biomedical research
Bone Marrow
Bone marrow transplantation
Bone Marrow Transplantation - methods
Census of Population
Civil rights
Classification
Continental Population Groups - genetics
Demographics
Ethnic Groups - genetics
Ethnicity
Female
Genetics
Genetics, Medical - methods
Genomes
Genomics
Haplotypes
Hispanic Americans
Histocompatibility antigen HLA
HLA Antigens - genetics
Humans
Identification
Immunology
Leukocytes
Male
Matching
Medicine
Minority & ethnic groups
Polls & surveys
Public health
Questionnaires
Race
Stem cell transplantation
Studies
Tissue Donors
Transplant Recipients
Transplants & implants
title Race, Ethnicity and Ancestry in Unrelated Transplant Matching for the National Marrow Donor Program: A Comparison of Multiple Forms of Self-Identification with Genetics
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