Viewpoint: Precision medicine plagued by an ’embarrassing’ human reference genome

| | April 1, 2019
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The human reference genome, largely completed in 2001, has achieved near-mythic status. It is “the book of life,” the “operating manual for Homo sapiens.” But the reference genome falls short in ways that have become embarrassing, misleading, and, in the worst cases, emblematic of the white European dominance of science — shortcomings that are threatening the dream of genetically based personalized medicine.

[A]bout 70 percent of the reference genome comes from an anonymous man designated RP11, said UW genome scientist Evan Eichler, with the rest from a few score other volunteers. The reference genome is therefore a mashup of the sequences of these everyday people.

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As a result, it isn’t a perfectly healthy genome: It has at least 3,556 variants that increase the risk of diseases, including type 1 diabetes and hypertension.

Its ethnic populations are almost all European — German, Irish, Polish, and others. The reference genome, therefore, is as well.

At a 2018 meeting convened by its National Human Genome Research Institute, experts concluded that the reference “does not adequately represent human [genetic] variation,” and that it needed to be improved by creating a “pan-genome.”

Read full, original post: Buffalo gave us spicy wings and the ‘book of life.’ Here’s why that’s undermining personalized medicine

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