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Genetic Linkage

Ancestry tests underreport African genetic diversity, limiting benefits of precision medicine for blacks. Here’s how we can change that.

We know that modern humans emerged about 200,000 years ago in Africa. So it's fair to say that African genomes are ancestral to us all – descendants of those who stayed in Africa as well as of those who left.

 

And yet people of African ancestry are astonishingly underrepresented in the genetic reference panels used to inform the "ethnicity estimates" that DNA testing companies return to customers who send in spit samples, hoping to trace their origins to something specific enough to compare to documents and family lore. A wider representation in the reference panels would also aid the interpretation of genetic information in developing new precision medical treatments.

 

New hope for rectifying this imbalance, in the form of the sequencing of 426 African genomes, was announced at the recent 2019 American Society of Human Genetics annual meeting in Houston. The talk's title encapsulated the vast scope of the work: "High-depth genome sequencing in diverse African populations reveals the impact of ancestral migration, cultural demography, and infectious disease on the human genome."

 

Right now, the colorful pie charts and polygons that depict customers' geographic origins skew heavily European.

 

To continue reading, go to Genetic Literacy Project, where this post first appeared.

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