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Antonio Regalado @antonioregalado
, 7 tweets, 2 min read Read on Twitter
Idea of polygenic risk scores for medicine make first appearance in the New York Times featuring @skathire and a Nature Genetics paper reviewing his work over the last few year.…
you know about genetic diagnosis of rare disease causing mutations, like the gene for CF or BRCA.

Well, polygenic risk scores calculate from hundreds/thousands/millions of variable points in your genome, your relative risk of any common disease.
Early this year we put the idea of polygenic risk scores (and the @skathire lab) on our list of 10 Breakthrough Technologies.…
The Nytimes doesn't mention that some of these medical polygenic risk tests are already in the market

Specifically, this one: a polygenic risk score from Myriad Genetics for breast cancer, which we wrote about in December.…
today's paper in Nature Genetics was misleading in this regard. It says, erroneously, "it has not yet been possible" to id a polygenic risk as big as a monogenic one.
Actually, Myriad's MyRisk test does exactly this It predicts a risk as big as BRCA1 or BRCA2 mutation, except using a polygenic score.

"It's like we found another BRCA" they say.
So, todays authors have been telling and developing this story so long (a few years now) they may still be using language from past papers. /END
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