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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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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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.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0135960</identifier><identifier>PMID: 26287376</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>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</subject><ispartof>PloS one, 2015-08, Vol.10 (8), p.e0135960-e0135960</ispartof><rights>2015 Hollenbach et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2015 Hollenbach et al 2015 Hollenbach et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c526t-d221206be9e754ca8fdd7e977d2d6ba11ddf57aaf52e2d13559ec5812ecdbdd13</citedby><cites>FETCH-LOGICAL-c526t-d221206be9e754ca8fdd7e977d2d6ba11ddf57aaf52e2d13559ec5812ecdbdd13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545604/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545604/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2095,2914,23846,27903,27904,53770,53772,79347,79348</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26287376$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Mersha, Tesfaye B</contributor><creatorcontrib>Hollenbach, Jill A</creatorcontrib><creatorcontrib>Saperstein, Aliya</creatorcontrib><creatorcontrib>Albrecht, Mark</creatorcontrib><creatorcontrib>Vierra-Green, Cynthia</creatorcontrib><creatorcontrib>Parham, Peter</creatorcontrib><creatorcontrib>Norman, Paul J</creatorcontrib><creatorcontrib>Maiers, Martin</creatorcontrib><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</title><title>PloS one</title><addtitle>PLoS One</addtitle><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.</description><subject>Adult</subject><subject>Algorithms</subject><subject>Bioinformatics</subject><subject>Biology</subject><subject>Biomedical research</subject><subject>Bone Marrow</subject><subject>Bone marrow transplantation</subject><subject>Bone Marrow Transplantation - methods</subject><subject>Census of Population</subject><subject>Civil rights</subject><subject>Classification</subject><subject>Continental Population Groups - genetics</subject><subject>Demographics</subject><subject>Ethnic Groups - genetics</subject><subject>Ethnicity</subject><subject>Female</subject><subject>Genetics</subject><subject>Genetics, Medical - methods</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Haplotypes</subject><subject>Hispanic Americans</subject><subject>Histocompatibility antigen HLA</subject><subject>HLA Antigens - 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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.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>26287376</pmid><doi>10.1371/journal.pone.0135960</doi><oa>free_for_read</oa></addata></record> |
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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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