The wild west of prenatal genetic testing


Welcome to Small Humans, an ongoing series at Mashable that looks at how to take care of – and deal with – the kids in your life. Because Dr. Spock is nice and all, but it’s 2019 and we have the entire internet to contend with.

In 2016, I took a genetic carrier screening test and learned I was a carrier for Gaucher’s, a rare metabolic disorder more common in Ashkenazi Jews that can lead to serious health complications. The test results after I logged in on the website said Positive: Carrier, with risk of 1 in 63 that I would pass this on to my child.

This number did what it was supposed to: It got my partner running to get tested, and it scared me. But it came with a big asterisk. The fine print – only accessible when you actually open the report – said this number was based on “a hypothetical pairing with a partner of the same ethnic group.” While I’m of Ashkenazi descent, my partner is not, and the carrier frequency for Gaucher’s outside the Ashkenazi population is less than one percent. He ended up testing negative for Gaucher’s, and positive for a few other conditions I did not carry and our doctor had never heard of. The panel we took had over 100 diseases on it, so it was not surprising we hit something.  Read more…

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