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Genomic Ancestry Replacing Self-Reported Race in Medical, Population Studies

By Andrea Anderson

SAN DIEGO (GenomeWeb News) – Genomic information is increasingly replacing self-reported race in medical- and population-related research, researchers noted at the American Association for the Advancement of Science meeting held here this weekend.

Speaking at a session on the use of genome sequencing and analyses for drug discovery and treatment, Mary Relling, chair of pharmaceutical sciences at St. Jude Children's Research Hospital, described advances in understanding genetic variation and allelic frequency in different populations as well as the implications of this research.

For instance, she noted that there are several known pharmacogenomics associations involving variants that differ in frequency depending on ancestry — from hepatitis C treatment response to outcomes following treatment with Plavix (clopidogrel).

Consequently, pharmacogenomics and genome-wide association studies need to take population structure and allele frequency differences into consideration, Relling said, noting that the US Food and Drug Administration has already added information on race-based considerations for prescribing several drugs based on an increasing understanding of this variation.

Although past studies have shown that genomic diversity and allele frequency patterns vary by population, corresponding to an out-of-Africa migration for modern humans, studies based solely on self-reported ancestry often don't reflect genetic ancestry and exclude individuals who are of mixed ancestry, Relling argued.

Instead, microarray and other genomic studies are providing the opportunity to accurately determine whether an individual carries a particular SNP related to disease risk, outcome, or treatment response — even when the frequency of that allele varies by population.

As a result, she explained, it will be important to move away from self-reported race and toward a more genomic-based understanding of ancestry-related disease diagnoses, prognoses, and treatments.

Stanford University researcher Uta Franke echoed this sentiment at another AAAS session over the weekend while discussing the use of ancestry informative markers in population genetics. With the availability of these revealing genetic clues, she said, "the concept of race is no longer useful in the context of this research."