In 2007, Anne Wojcicki’s 23andMe transformed personalized health with the unveiling of a direct to consumer genetic testing service in which subscribers would receive information about their ancestry, physical traits, and disease carriers by simply providing a saliva sample via mail to the company’s labs.
Since then, 23andMe has garnered significant media attention, both positive and negative. It’s been contacted numerous times by the United States FDA, mainly concerning issues of how to formally classify such a novel service, and consequently, on the accuracy of its disease risk predictions. The disease risk prediction part of the offering was subsequently suspended for nearly two years. However, just last month, the company received FDA clearance to market tests for genetic variances for 10 diseases, including Parkinson’s and late-onset Alzheimer’s.
We received a Health+Ancestry kit that provides genetic health risk, ancestry, wellness, carrier status, and genetic traits reports that retails for $199. Nearly two months ago, I (Scott) spit into a tube for science, and last week, received my reports. Read on to learn about my experience and whether I (and you) should be concerned about a rhizomelic chondrodysplasia punctata type 1 variance.
The box I received contained everything you need and also acts as a pre-paid shipping box to send your sample back to the company. The first and most important step is to register your kit on 23andMe’s website, which links your kit with the online reports. Once registered, simply refrain from eating and drinking for 30 minutes, spit until you collect the specified amount of saliva, add the included buffering/preservative solution, screw the cap on, and ship it back. Once the sample is out of your hands, it can take 6-8 weeks for 23andMe to receive and analyze it. While you’re waiting, you can log in on the website to read more about the technology behind the genetic testing, opt in for specific reports, and answer questions that can enhance your personal reports with additional information as well as contribute to 23andMe’s phenotyping database.
I actually ran into a problem because my first saliva sample didn’t contain enough DNA to amplify (replicate) and analyze, necessitating the need for a second sample. 23andMe thankfully makes this process simple by sending a replacement kit free of charge and already pre-registered. The additional wait only made me more giddy with excitement, but 23andMe does a great job by allowing you to track the status of your sample through the entire process.
The magic starts thanks to a customized version of the Infinium OmniExpress chip manufactured by San Diego, CA based Illumina. It contains 250,000 immune specific markers (specific numbers of markers corresponds to specific genes that will/won’t be expressed), and is capable of processing up to 24 samples at a time.
If you’re wondering how the process works, it’s a modified version of a well-established technique called DNA hybridization. In a nutshell, chemicals, a little bit of heat, and time first cause the DNA to be separated from saliva and amplified. The amplified DNA is then applied to the biochip. If a gene is expressed, the corresponding nucleotides in the DNA samples will bond to their complementary nucleotides on the biochip and will turn a specific color when stained. The biochip is then scanned and analyzed, and the raw genetic code data is created.
Once the raw genetic data is created, 23andMe’s algorithms go to work translating it from series of A’s, T’s, C’s, and G’s into reports that users can understand. It’s notable that 23andMe believes your genetic data should always be accessible to you; in addition to reports, you can browse your raw genetic data to search for specific genes or markers. You can also download the raw data as a text file that could theoretically be used by other programs. However unless you’re a geneticist, molecular biologist, or are very possessive of your data, you probably won’t find this information too useful.
Here, I should point out that 23andMe’s service isn’t whole genome sequencing; it’s a genotyping analysis that looks at about 600,000 SNP’s (single-nucleotide polymorphisms) of the 3 billion base pairs in the human genome.
After about 8 weeks, I was finally notified that my test results were ready! At the time of writing, there were 80 reports available: 4 ancestry reports, 42 carrier status reports, 4 genetic health risk reports, 22 traits reports, and 8 wellness reports. Each report contains a description of what was tested and its limitations, the results, and other statistical data. Several reports about genetic health risks or carriers contain an additional FAQ section. And for the more science-minded, many of the reports contain additional scientific details on how the test was performed and the data interpreted.
The ancestry reports gave me a detailed breakdown of my ethnicity. I was pleased that it gave a similar result to an Ancestry.com DNA test I had taken last year; I’m about 91% Chinese and 9% Southeast Asian. Other ancestry reports include identifying your maternal and paternal haplogroups (a family of maternal or paternal lineages that descend from a common ancestor) and the number of Neanderthal variants you possess. There’s also a report that involves linking you genetically to others, but these have to be 23andMe users who have opted in to this social-genetic database. Of note, you can choose to purchase the ancestry only service from 23andMe, which will run you $99.
The carrier reports indicate if you are a carrier of a variant associated with certain diseases. This means you might not have the disease, but it could affect the health of your biological children. Even if you hopefully test negative for these variants, there’s otherwise interesting information on these rare genetic disorders. Know of anyone with Maple Syrup Urine Disease Type 1B?
The genetic health risk reports will be the ones hypochondriacs fear the most, as it indicates whether you possess a variant that could increase your risk of diseases like Parkinson’s. These reports are more comprehensive and discuss other factors that could cause the disease, potential symptoms, and treatment options.
The traits reports were mainly a fun way to see how accurate your genetic data was in determining some of your physical characteristics. For example, it (accurately) predicted that I lacked a unibrow. It determined that I don’t possess the photic sneeze reflex (when you sneeze when suddenly exposed to bright sunlight). It told me that I prefer salty/savory foods over sweet, and that I can smell the asparagus metabolite in pee.
Finally, the wellness reports show how my DNA influences my body’s response to diet or lifestyle. Similar to the traits reports, they’re entertaining to read, but also contains general information on how you can alter your lifestyle. For example, the reports confirmed my lactose intolerance and showed that I have a genetic tendency to sleep less and move around more during sleep than others. Of utmost importance, I also learned that I am unlikely to develop the “Asian glow” after drinking alcohol.
My 23andMe reports were highly informative to read. Much more than mere test results, I learned a lot about rare genetic disorders and about the genetic profiling process. Whether or not you have any background or interest in science, there’s a lot of cool educational material here.
Now, as for whether or not this service is appropriate for you depends on your intentions. If you simply want to learn more about genetics, health, or medicine in a very personal way, 23andMe is awesome. It’s the ultimate science experiment that demonstrates in a great way the capabilities of genomics, and, if you opt in, a great way to contribute to the study of disease from a genetics point of view.
If you want to actually avoid a disease or make a lifestyle change, I would actually hesitate to recommend the service. You’ll want to seriously consider if knowing this powerful information about your DNA could realistically help you or potentially make you live in a state of constant fear. Consider, firstly, that while some of the tests have been approved by the FDA, none of the tests can provide an actual diagnosis and therefore should not substitute further discussions with your doctor. Second, the reports emphasize repeatedly that you could still be the carrier for or be at risk for a disease even with the absence of a genetic variant. Only a limited number of variants for a disease have been found and can be tested, and there are likely many more that have yet to even be discovered. Furthermore, even with the presence of a variant, the risk of developing several of the diseases can be reduced simply with lifestyle changes, such as a healthier diet and more exercise. Finally, I felt that the usefulness of the information my reports provided to me was limited. I already knew that my ring finger was longer than my index finger, and there’s not much I can do with the fact that I won’t develop as many slow-twitch muscle fibers that endurance athletes possess.
But advancements in genetics continues to teach us more about our bodies: how we develop, how diseases develop, and how we can eliminate them, and 23andMe has played a significant role in the field. While I can’t say that 23andMe’s DNA testing is appropriate for everyone, I was certainly reminded about just how unique and complex my own body is. There’s a lot you can do with just 23 chromosomes.
Product page: 23andMe’s Health+Ancestry kit…