When consumer genetic tests disagree on critical mutations

mutation
[Matt Fender] wasn’t worried last December when he clicked a button to dump all the raw data from his 23andMe genetic test into a DNA search engine called Promethease, which sorts through data for gene variants that have received a mention in the medical literature.

Mr. Fender’s update included something new: the terms “PSEN1” and “pathogenic.” Mr. Fender is a coder, not a geneticist, but he had spent enough time scrolling through his 23andMe results to know he had gotten some bad news.

The PSEN1 mutation is associated with an early-onset form of Alzheimer’s, and it is often described as “100 percent penetrant,” which he quickly came to understand meant no exceptions — everyone with the variant gets the disease.

Meanwhile, he happened to see a holiday special — $69 — for Ancestry’s genetic risk test. He realized he could use it to, in effect, get a second opinion about his PSEN1 variant.

Related article:  Did you get a DNA ancestry kit for Father’s Day? Here are some things to consider before spitting in that vial

Five weeks later, the results were ready. He downloaded his raw data and returned to Promethease. An hour later, he had a new report. He looked for PSEN1 at the top of the list. It wasn’t there.

[Matt] eventually persuaded his doctor to order a clinical test of the PSEN1 gene. It was negative.

A person with fewer resources or different inclinations might have lived for years under that cloud, waiting to get sick.

Read full, original post: 23andMe Said He Would Lose His Mind. Ancestry Said the Opposite. Which Was Right?

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