Race, genetics, and geography

Interesting preprint, Multiple Measures Reveal The Value of Both Race And Geographic Ancestry For Self-Identification:

There is long-standing tension regarding whether and how to use race or geographic ancestry in biomedical research. We examined multiple self-reported measures of race and ancestry from a cohort of over 100,000 U.S. residents alongside genetic data. We found that these measures are often non-overlapping, and that no single self-reported measure alone provides a better fit to genetic ancestry than a combination including both race and geographic ancestry. We also found that patterns of reporting for race and ancestry appear to be influenced by participation in direct-to-consumer genetic ancestry testing. Our results demonstrate that there is a place for the language of both race and geographic ancestry as we seek to empower individuals to fully describe their family history in research and medicine.

Two salient points. A combination of official racial categories and personal ancestry description seem to be the best predictor of genomic ancestry at the HLA loci. Second, HLA loci variation is highly sensitive to genetic background. It’s optimal to have more information, not less. This needs reiteration since I’m told some geneticists have been dismissing the need for self-reports of ethnicity.

In some ways, we haven’t moved that far beyond Risch 2003.

A minor gripe is that the preprint keeps mentioning supplements in the text body, but it’s not available for download (that I can see). Makes it harder to evaluate…

Also, the authors report that those who utilized direct-to-consumer personal genomics changed some opinions. For example, a smaller proportion of white individuals reported indigenous American ancestry, while a larger proportion of Hispanics reported indigenous American ancestry. Some of the authors work at Ancestry so not entirely surprising that it would present this stuff in a positive light, but would anyone complain about this?

Update: An author responds to a few points.