23andMe: Not Just for Fun Anymore

23andMe's DNA testing was always fun. Now it is more useful as well.

As anyone who follows this blog knows, I had my DNA tested awhile back by a company called 23andMe.  I wrote about what I learned and didn’t learn from their testing in a bunch of blog entries.

In my mind 23andMe has always been a sort of recreational genetics testing company.  You can find out about your earwax, whether you are likely to have blue eyes or be lactose intolerant and lots of other minor sorts of traits.  This is stuff you probably already know but for geeks it is pretty cool to see them written out in their DNA.

The company always offered some health data too but it wasn’t that strong.  For example, they could tell you if you carried the most common DNA difference that could lead to cystic fibrosis (CF) but not about the less common ones.  In fact, I gave them an incomplete for their carrier testing a few months back.

Since then, the company has gone away from being a place where you get your DNA tested for coolness’ sake to one with a focus on health and/or ancestry.  With this change has come a much-improved product for people interested in what their DNA tells them about their carrier status for a variety of genetic diseases.

Carrier status is important if you are considering having a child.  If you and your partner both carry the broken versions of a gene that could lead to a disease, then your child would be at an increased risk for getting that disease.  For example, if both you and your partner have a nonworking copy of the CFTR gene, then, depending on the exact DNA you each have, your child could have up to a 25% chance of ending up with CF.

This is why the first iteration of 23andMe carrier testing wasn’t as useful as I would have liked.  They tested only one of the 100’s of different DNA variants in the CFTR gene that can lead to CF. Since this DNA variant only accounts for about half the cases of CF, there was a good chance that something would get missed.  This is no longer true.

As part of the refocusing, 23andMe looks for 31 different variants in the CFTR gene that are known to cause CF. Now this isn’t hundreds but is more than the 23 recommended by the American College of Medical Genetics.  And in fact 23andMe includes these 23 in the 31 it tests.

Of course the testing still isn’t perfect but no testing is.  Some of the tests are only useful for certain ethnic groups.  And there is no upfront genetic counseling to help you decide whether or not genetic testing would be useful in your situation anyway.

But the bottom line is that 23andMe’s testing for genetic diseases that you might be carrying is much stronger than it was before.  So much so that it can even give you some piece of mind for many of these diseases.

In some ways I’ll miss the more whimsical look at DNA that 23andMe used to represent.  But this obviously wasn’t a good business model for anyone except those enamored of DNA.  And 23andMe does need to make a profit…

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