This fall, personal genetics company 23andMe launched a new direct-to-consumer test that complies with the FDA’s rules on personal genetics testing.
The new test gives information on everything from how much DNA you share with our Neanderthal ancestors to how much caffeine you likely consume.
It also lets you know if you’re carrying certain genetic variations related to diseases that you could pass on to your kids.
I’ve been interested in what 23andMe is doing ever since I heard they were planning to develop drugs based on genetic information. But I was also curious to see what kind of diseases I might be at risk of passing down to my kids and whether the health concerns that run in my family could be spotted in my spit.
Here’s what it was like:
A few days after ordering, my box arrived! It was colourful and so inviting that I couldn't wait to open it up.
The test came with instructions, a tube for me to spit in and a special, sealed bag to enclose the tube in when I was done. Spit is one of the most non-invasive ways to collect DNA.
Spitting into a tube wasn't as easy as I expected (my apologies to my coworkers who had to hear me do this for about five minutes). 23andMe needs this much spit just in case the first assay, or analysis procedure, fails, 23andMe Vice President of Business Development, Life Sciences Emily Drabant Conley told Business Insider. That way, they have enough to run it a second time.
Before I shipped it in, I had to register my test online. I also got to decide if I wanted to have my genes used to research and develop treatments for diseases. In the spirit of science, I decided to consent and sign the form, along with about 80% of 23andMe users.
The kit came as its own return shipping. All I had to do was pop it in my nearest mailbox and it was on its way! The box is conveniently labelled 'exempt human specimen,' which is a creepy-sounding way of letting shippers know my package doesn't contain anything infectious.
After 7 weeks, my results arrived via email. In total, I had 62 reports waiting for me based on my 23 pairs of chromosomes from mum and dad. The reports covered everything from family history to physical traits and genetic variants related to diseases that I could pass down to my kids.
Of course, I had to look at my ancestry breakdown. To no one's surprise, I am very Northwestern European. Drabant Conley said this information comes from over 30 reference populations, or the genetics of people who have lived in a geographic area for multiple generations, and from other 23andMe users whose grandparents all came from the same place. My DNA is then compared to those populations to see if there are matching bits.
The new test could also tell me more about my health and wellness. I found out I'm not pre-disposed to having 'sprinter/power type' muscles because I don't have 2 copies of a special muscle protein that's been connected to Olympic sprinters. But, Drabant Conley said, this result is not intended to be used as a diagnostic test -- had I been a good sprinter (I'm not), this would just reinforce why I'm so good.
23andMe ran into trouble with the FDA two years ago when they said the company's tests could be interpreted as medical advice. So I wasn't surprised to see this test's 'limitations' laid out clearly. The new tests meet the standards of both the Clinical Laboratory Improvement Amendments and the FDA.
As an avid latte drinker, I was surprised to see that I drink less caffeine than the average person. 23andMe told me that, like the sprinting wellness trait, this result would just show me that I'm predisposed to drink less caffeine on average. Environmental factors, such as working in a fast-paced newsroom, also play a role in my caffeine habits.
It was incredible to see all the different things the test could tell based on a sample of spit. The science of determining features based on a DNA sample is getting more advanced in recent years, but much of it is still limited. When it came to my results for appearance, though, pretty much everything the test showed me was spot-on.
...such as finding out that I'm 96% likely to have 'little or no unibrow' (true; I don't have one). The other traits the test looked at, including eye colour and hair texture, are linked to specific variants on genes -- many of which have only recently been identified.
But other results surprised me, like this one saying I have a 99% chance of not having red hair. My sister and a cousin are red-heads and I was born with reddish-blonde hair, so I assumed it ran in the family. Carmela Thompson, a genetic counselor with Genetic Discovery SF, told me I should take these results (along with some of the wellness tests) with a grain of salt. 'Take the genes for hair colour complex,' she said. 'I wouldn't say conclusively that it doesn't mean there is a chance your children won't have red hair.'
My sister Greta (right) and I: Proof that there's red hair in my family.
I got to the most controversial part of the test at the end: the carrier status test, which tells me if I carry a specific variant that I could pass down to my children and result in a genetic disease. These were the tests the FDA needed to approve. 23andMe was very thorough in their presentation here, making it clear that these couldn't be used to inform my own health.
The carrier status tests make up 36 of all the tests 23andMe offers. You're not going to find out if you have the BRCA gene for breast cancer, nor will you find out your likelihood for having Alzheimer's like you could in the last health test 23andMe offered. Had I been a carrier of one of the mostly rare diseases in 23andMe's reports and was interested in having children, Thompson said it would be best to talk to a genetics counselor before moving forward. At that point, it would also be good to get some clinical genetic testing done with a physician involved.
The takeaway: At $199 a test, it was a bit out of my budget to give as holiday gifts, but I'll definitely be encouraging friends and family to try it. If nothing else, contributing to research and getting more comfortable with this information is a good thing. Besides, it's always fun to see how much DNA you have in common with Neanderthals.
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