In late 2018 I was introduced to the DNA genetic testing platform, 23andMe. At the time I was more interested in the traits it predicted, such as my likelihood of baldness or hatred of eating sounds, so I sent in my sample and joined their community. The health platform reports I received included my carrier status for several rare diseases. At the time, Pompe was not on the list of tested conditions, and I was informed that I had nothing to worry about.
I very rarely check the 23andMe website, but last week they wrote to me, updating some of my ancestry reports. So, I dutifully logged in to see if there was anything interesting. There were no surprises to my ancestry, but I did notice that Pompe disease now has five mutations tested and it reported that I have one of the rarer variants. It turns out that my wife has a milder and more common variant that allows our son to enjoy a good quality of life.
The variants tested are currently very limited (5 out of a possible 200+) but do include the most common variants in people of African/African American and European descent.
Where people are detected with two variants, they will be alerted by 23andMe that they may develop symptoms in the future. Most people who receive such a report will no doubt visit their physician for confirmation, but 23andMe also provides links to organisations that support Pompe disease. One of the four organisations listed is Pompe Support Network! So, we might expect to hear from people in the future who require further reassurance about their carrier status or of their 23andMe diagnosis of Pompe.
I’d be very interested to hear from anyone else who has already signed up to 23andMe or other genetic testing platforms for their experiences. I’m reluctant to recommend 23andMe at the moment because there were questions about its data security back in 2019, although Google’s AI application, Bard, tells me that they now have the best data encryption and security of the available genetic ancestry and health platforms; so that must be true…
