Tuesday, June 1, 2010

My 23 and Me Genetic Testing Results and Overview

Back in April, I signed up for genetic testing through 23andme.com. They were running a special in honor of DNA Day, which included both types of their testing (see below) for $99 versus the current price of $499. Naturally, with that price, this is a great deal, and although I seemed to have gotten to it too late, I was eventually able to take advantage of the offer thanks to the kindness of the 23 and Me staff.

The genetic testing included Ancestry, which includes information on your paternal (if you are male) and maternal line, possible relatives in the 23 and Me community, and your percentage of European, African and Asian heritage, and Health, which looks at your genetic propensity towards certain diseases and traits. Due to the possibility that my nonsyndromic sensorineural hearing loss is a result of genetics, I was curious especially about my Health results, but Ancestry is interesting, too.

I received my testing kit earlier this month on May 6. Here's my blog post about it. The testing kit consists basically of a testing tube, which you spit in and send back to them (in its own little biohazard bag). Look! It's science!



According to the materials I received, it would take about 6-8 weeks for them to process my sample and have the results on their website. I expected it would take near the maximum amount of time allowed, because I'm sure they got a lot of people taking advantage of their sale price.

While I was waiting, I noticed with interest that 23 and Me's name was popping up a bit in the news. Pathway Genomics - another genetics company - wanted to sell their genetic testing kits in Walgreens stores, prompting concern from the FDA and Congress. 23 and Me has already responded to some of this on their blog.

It was a big surprise when I received an email on May 27 telling me that my information was ready! It only took them 21 days (less if you count the time it took for them to receive the sample from me) to process it.

Naturally as soon as I got that email, I checked out my info. Everything is online and broken down into the Health and Ancestry sections. There's so much information it can be a little imposing at first. However, I was immediately drawn to the obvious yellow wording on the first page: Variant Present for Connexin 26-Related Sensorineural Hearing Loss. I wasn't sure what that meant. Did that mean I did indeed have hearing loss due to the Connexin 26 mutation?

In 23 and Me's words, no, most likely not: "Most likely does not have connexin 26-related nonsyndromic sensorineural hearing loss, but can pass mutation to offspring. May have hearing loss due to other mutations in the GJB2 gene or another gene (not reported here)." So I do have the variant and can pass it on, but it's not that particular mutation that has caused my hearing loss.

It wasn't as cut-and-dry as I hoped (I was hoping for a yes or no answer), but I'm sure a geneticist could give me more information. The rest of my results are absolutely fascinating anyway. I've learned quite a lot about myself.

For example, I've learned my risk for age-related macular degeneration, psoriasis, asthma, and other disorders. I've learned that Plavix is less efficient for me and warfarin is more effective. I metabolize caffeine slowly, I don't flush when I drink alcohol, I have no genetic resistance to malaria, and I can probably sprint really well.

As for the Ancestry results, I'm in the maternal haplogroup H5a1. That means my maternal ancestors were from northern Europe, like Poland, Ireland, and even to France. I've already been contacted by a 4th cousin (completely anonymously) through the site.

All in all, 23 and Me is an awesome service. Well worth the $99, and depending on your curiosity, worth even the $499. It was very eye-opening for me.

5 comments:

  1. Very interesting!!Are you glad you did it?? I know the 2 possible reasons but wish I knew the definate reason, but like a lot of us, we don't get to find out 100%

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  2. Wonder if that information indicates what percentage of the population carries the Cx-26 mutation, said to be the commonest cause of genetic deafness.

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  3. Lissa: I am very glad I did it! It's so fascinating, even if the answer is not quite there.

    Anonymous: It would be very interesting to learn. Since the mutation is recessive, there are many people today who may have it but never even know; you need to inherit two copies of the mutation in order to have a chance of exhibiting deafness due to it.

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  4. Megan, thank you so much for this blog! I was looking into 23 and ME, and I wasn't sure if it was really all it claimed to be, or if it was just a waste of $99 ... apparently it is completely worth it. Thanks so much! BTW ... I'm happy to hear that you are so excited to learn all that you have about yourself and your history.

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  5. Same Haplo mtDNA group as you. It is impossible to do an upline search when everyone is cloaked on the 23andme site. Wonder if we are connected?

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