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Via one of @balajis' companies I learned that I'm a carrier for a rare variant of the Tay Sachs mutation, which kills 100% of children born with 2 copies — usually by age 4
That info may protect me from having to watch a kid die
What the fuck have you done with your life, Ryan?https://twitter.com/RMac18/status/1252256634421694464 …
If you're curious, I was actually certain that I did *not* have this carrier status because 23andMe had cleared me Turns out 23andMe only looks for the Ashkenazi variant, which accounts for most Tay Sachs cases. They warn users about this now, but for many years they didn'tpic.twitter.com/PO5Pq3U6iF
23andMe should have you covered for Ashkenazi/Cajun descent. French Canadian variant is the one that's missed. There's also some prevalence among the Irish; not sure which variant Broadly speaking I do think a full preconception genetic screen is a good idea if you can afford it
And here I am, a so-called biologist, thinking that significant French Canadian fraction offset my Tay-Sachs carrier risk. Thanks for learnin me something.
I though @23andMe was mostly about exploiting people's naive sense of nationalism, and latent penchants for social Darwinism in various gnarly forms, in exchange for their genetic data. Which will help (primarily American) #insurance companies decide which risks to take.
Wow. I speak as a carrier of the Azkhenazi variant.
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