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Asking bone marrow donors about their grandparents’ ancestry may help match donors to the appropriate recipients, according to research published in PLOS ONE.
Investigators found that when donors were self-reporting their race/ethnicity and included information on their grandparents’ ancestry, their responses often matched their genetics better than when they simply selected from standard race/ethnicity categories.
The investigators said these results show that more research is needed to refine methods for collecting and interpreting information on race/ethnicity for medical purposes.
“In medicine, we’ve been under the assumption that it’s just a matter of presenting people with the right check boxes,” said Jill Hollenbach, PhD, of the University of California, San Francisco. “It turns out that it’s much more complex than that.”
She and her colleagues noted that identifying a 10/10 human leukocyte antigen (HLA) match in the National Marrow Donor Program’s Be The Match Registry can be difficult because most of the donors submitted samples at a time when genotyping was much less advanced than it is today.
To find likely matches to pursue, the registry uses bioinformatics to weed out the donors unlikely to have matching HLA genes. Although HLA genes are highly variable, certain variations are found at higher frequencies in some regions of the world than others.
A patient with geographic ancestry in East Asia, for example, is more likely to have the same HLA variation as someone with origins in East Asia, rather than someone with European ancestry.
To obtain such information, most medical facilities use the patients’ race/ethnicity self-identification as a proxy. This can be challenging for people who trace their ancestry to multiple origins.
“The United States census uses a “check all that apply” technique, which is OK, but we want to try to get a little more refined to improve our matching efficiency,” said study author Martin Maiers, director of Bioinformatics Research at the Be The Match Registry.
To assess the extent to which different means of self-identification correspond to genetic ancestry, the investigators recruited 1752 potential donors from the Be The Match Registry.
The team sent participants a questionnaire with multiple measures of self-identification, including race/ethnicity and geographic ancestry, and asked participants to assign geographic ancestry to their grandparents. Participants also submitted cheek swabs as DNA samples.
By analyzing the cheek swabs, the investigators genotyped 93 ancestry informative markers to identify the participants’ genetic ancestry. This revealed a strong correlation between the ancestry markers and HLA genes.
Unfortunately, no measure of self-identification showed complete correspondence with a donor’s genetic ancestry. However, information about the geographic origins of the donors’ grandparents corresponded most closely with genetics, particularly for participants with ancestry from multiple continents.
“The conventional wisdom of the last decade or two has been that race is a social construct,” Dr Hollenbach said. “That’s true, but race is also part of the language of self-identification in [the US]. Let’s understand how these different forms of self-identification and genetic ancestry intersect to improve transplant matching for people of all ancestral backgrounds.” 
Photo by Chad McNeeley
Asking bone marrow donors about their grandparents’ ancestry may help match donors to the appropriate recipients, according to research published in PLOS ONE.
Investigators found that when donors were self-reporting their race/ethnicity and included information on their grandparents’ ancestry, their responses often matched their genetics better than when they simply selected from standard race/ethnicity categories.
The investigators said these results show that more research is needed to refine methods for collecting and interpreting information on race/ethnicity for medical purposes.
“In medicine, we’ve been under the assumption that it’s just a matter of presenting people with the right check boxes,” said Jill Hollenbach, PhD, of the University of California, San Francisco. “It turns out that it’s much more complex than that.”
She and her colleagues noted that identifying a 10/10 human leukocyte antigen (HLA) match in the National Marrow Donor Program’s Be The Match Registry can be difficult because most of the donors submitted samples at a time when genotyping was much less advanced than it is today.
To find likely matches to pursue, the registry uses bioinformatics to weed out the donors unlikely to have matching HLA genes. Although HLA genes are highly variable, certain variations are found at higher frequencies in some regions of the world than others.
A patient with geographic ancestry in East Asia, for example, is more likely to have the same HLA variation as someone with origins in East Asia, rather than someone with European ancestry.
To obtain such information, most medical facilities use the patients’ race/ethnicity self-identification as a proxy. This can be challenging for people who trace their ancestry to multiple origins.
“The United States census uses a “check all that apply” technique, which is OK, but we want to try to get a little more refined to improve our matching efficiency,” said study author Martin Maiers, director of Bioinformatics Research at the Be The Match Registry.
To assess the extent to which different means of self-identification correspond to genetic ancestry, the investigators recruited 1752 potential donors from the Be The Match Registry.
The team sent participants a questionnaire with multiple measures of self-identification, including race/ethnicity and geographic ancestry, and asked participants to assign geographic ancestry to their grandparents. Participants also submitted cheek swabs as DNA samples.
By analyzing the cheek swabs, the investigators genotyped 93 ancestry informative markers to identify the participants’ genetic ancestry. This revealed a strong correlation between the ancestry markers and HLA genes.
Unfortunately, no measure of self-identification showed complete correspondence with a donor’s genetic ancestry. However, information about the geographic origins of the donors’ grandparents corresponded most closely with genetics, particularly for participants with ancestry from multiple continents.
“The conventional wisdom of the last decade or two has been that race is a social construct,” Dr Hollenbach said. “That’s true, but race is also part of the language of self-identification in [the US]. Let’s understand how these different forms of self-identification and genetic ancestry intersect to improve transplant matching for people of all ancestral backgrounds.”
Photo by Chad McNeeley
Asking bone marrow donors about their grandparents’ ancestry may help match donors to the appropriate recipients, according to research published in PLOS ONE.
Investigators found that when donors were self-reporting their race/ethnicity and included information on their grandparents’ ancestry, their responses often matched their genetics better than when they simply selected from standard race/ethnicity categories.
The investigators said these results show that more research is needed to refine methods for collecting and interpreting information on race/ethnicity for medical purposes.
“In medicine, we’ve been under the assumption that it’s just a matter of presenting people with the right check boxes,” said Jill Hollenbach, PhD, of the University of California, San Francisco. “It turns out that it’s much more complex than that.”
She and her colleagues noted that identifying a 10/10 human leukocyte antigen (HLA) match in the National Marrow Donor Program’s Be The Match Registry can be difficult because most of the donors submitted samples at a time when genotyping was much less advanced than it is today.
To find likely matches to pursue, the registry uses bioinformatics to weed out the donors unlikely to have matching HLA genes. Although HLA genes are highly variable, certain variations are found at higher frequencies in some regions of the world than others.
A patient with geographic ancestry in East Asia, for example, is more likely to have the same HLA variation as someone with origins in East Asia, rather than someone with European ancestry.
To obtain such information, most medical facilities use the patients’ race/ethnicity self-identification as a proxy. This can be challenging for people who trace their ancestry to multiple origins.
“The United States census uses a “check all that apply” technique, which is OK, but we want to try to get a little more refined to improve our matching efficiency,” said study author Martin Maiers, director of Bioinformatics Research at the Be The Match Registry.
To assess the extent to which different means of self-identification correspond to genetic ancestry, the investigators recruited 1752 potential donors from the Be The Match Registry.
The team sent participants a questionnaire with multiple measures of self-identification, including race/ethnicity and geographic ancestry, and asked participants to assign geographic ancestry to their grandparents. Participants also submitted cheek swabs as DNA samples.
By analyzing the cheek swabs, the investigators genotyped 93 ancestry informative markers to identify the participants’ genetic ancestry. This revealed a strong correlation between the ancestry markers and HLA genes.
Unfortunately, no measure of self-identification showed complete correspondence with a donor’s genetic ancestry. However, information about the geographic origins of the donors’ grandparents corresponded most closely with genetics, particularly for participants with ancestry from multiple continents.
“The conventional wisdom of the last decade or two has been that race is a social construct,” Dr Hollenbach said. “That’s true, but race is also part of the language of self-identification in [the US]. Let’s understand how these different forms of self-identification and genetic ancestry intersect to improve transplant matching for people of all ancestral backgrounds.”