Years ago, being able to map out our own DNA seemed like science fiction fantasy. In 1985, the first DNA test was conducted, and now only 32 years later, these tests are sold at drug stores. Today, mapping one’s DNA has become commonplace with AncestryDNA, 23andMe, and other genetic services. With a simple saliva sample, you can map out your ancestral lineage and even get information about your health within your genetic code.
This year, as I turned 40, my thoughtful husband had this great idea to get me a 23andMe DNA test for my birthday. 23andMe offers two versions of their test – an ancestry test only for $99 and an ancestry plus health test for $199. I decided that I wanted to know everything that I could know from my DNA – good or bad – so we chose the ancestry and health test.
Here is an explanation of genetic testing provided by the 23andMe website:
“The 23andMe Personal Genome Service® analyses a subset of your DNA, across all of your chromosomes and the mitochondria. The pieces of DNA analysed are called SNPs (Single Nucleotide Polymorphisms) and are used to tell you about your recent ancestry, the origins of your paternal lineage (males only) and maternal lineage, and even your Neanderthal ancestry. Individuals provide saliva samples which are analysed by our CLIA-certified laboratory, and the results are returned to your online account in approximately 6-8 weeks after your sample is received at our lab.”
I was super excited about doing this test, but was a little nervous about getting the results. What if I was a carrier for certain genetic mutations or was at risk for developing Alzheimer’s? I decided that if there was a bad result, I would seek out a genetic counselor, just as 23andMe recommends.
When I received the kit in the mail, I opened it and started reading the instructions.
The first thing I needed to do was to register my kit with an online account at 23andMe. Since I didn’t have an account, I had to create one. Here, I entered the personal bar code that’s on my sample vial. Since the company does not take names, the information tied to my kit/bar code/vial gets linked with my online account; this allows total anonymity and privacy.
The DNA test is performed on a saliva sample which you send in. The directions for providing the saliva sample were very simple. No food, drink, or toothbrushing 30 minutes before the sample is obtained. I was surprised that so much saliva was required, since I was expecting it to be simply a swab in the mouth. (I watch too much Law & Order!) It takes less than five minutes to provide the amount of saliva that’s needed to process the kit.
After your specimen is ready, follow the directions for sealing the vial, then put it in the bag, and place it in the same box the kit was mailed in. Close up the box and your package is ready for shipping. Drop the box into any US mailbox. Postage is already paid.
The processing for my kit took about 6-7 weeks. When you log on to your account at 23andMe, you can find out the status of your sample, if it was received, and how much analysis has been done. While you wait for your results, you can also answer a series of personalized questions at the 23andMe website, to understand your personal preferences and better analyze your DNA for the report. In addition, they will ask you for consent to participate in 23andMe research. This basically allows the company to use your DNA and the information you give them, by adding it to their database which helps further their knowledge of genetic tests and sequencing. Remember, all information is confidential and it’s your choice to share your genetic information. When the results are ready, you’ll be notified via email that your DNA reports and health information are ready for viewing in your account.
The amount of information that you receive is overwhelming at first. However, 23andMe does a pretty good job simplifying the medical jargon and explaining your results.
As I got the health and ancestry kit, I received reports on:
- Carrier Status for Inherited Diseases
- Genetic Health Risks (like Alzheimer’s and Parkinson’s Disease)
- Traits (predictions on what you look like and preferences you have, based on your DNA)
- Wellness (how your DNA affects your body’s response to your lifestyle choices like diet and exercise)
- A list of DNA relatives within the 23andMe community
Details on each category are listed below.
My primary makeup, according to 23andMe, is Scandinavian (18%). I’ve always known myself to be 75% German and 25% Swedish. Needless to say, I was wondering where the German ancestry was; it must have been clumped into my “Broadly Northwestern European” lineage of 44%. Considering that the boundaries of European countries have changed so many times throughout history, it must be difficult to distinguish certain traits in DNA that make one’s ancestry specific to one certain country.
In addition to learning your ancestry composition, you learn about what haplogroup (genetic groups that share a common ancestor) you are from and percentage of Neanderthal variants you have – information I found fascinating!
Carrier Status for Inherited Diseases
Your DNA is analyzed to see if you carry certain variants for forty-two diseases, thereby affecting the health of your offspring. Tests include cystic fibrosis, a few types of muscular dystrophy, sickle-cell anemia, Tay-Sachs disease, and more. People do need to keep in mind that 23andMe does not test for every variant associated with the condition, so it is still possible to be a carrier of a variant that isn’t included in their testing.
Genetic Health Risks
These reports from 23andMe educate you on genetic variants that may increase your risk of developing certain health conditions. These include late-onset Alzheimer’s, Parkinson’s disease, alpha-1 antitrypsin deficiency, and hereditary thrombophilia. Once again, 23andMe cautions that they do not test for every variant associated with these conditions and that environment, lifestyle, and family history may also affect your risk.
Trait information includes data on taste and smell, facial features, hair, physical characteristics, physical responses, and skin. Obviously, this is information that I already knew the answers to or could find out very easily. Data here represents earlobe type, eye color, likeliness to have freckles, hair curliness and color, and skin pigmentation. 23andMe gives you predictions on what traits you likely have, based on a percentage. Most of my trait predictions were correct. The only two that were off were hair color and toe length ratio (between the first and second toes). And as these are based on a percentage that you LIKELY have the trait, nothing was for certain. Overall, this was interesting, but not as compelling to me as the ancestry data.
The 23andMe wellness report shows you how your DNA influences your body’s response to factors like lifestyle, diet, and exercise. Included in the report is: alcohol flush reaction; likely amount of caffeine consumption; how you sleep; genetic weight; lactose tolerance; muscle composition; how saturated fats affect your weight; and sleep movement. After a few years of struggling with long distance running and even running one marathon, I knew that I was better off in the gym lifting weights than running. I hated running (but loved lifting!) and so did my body. Apparently, it’s in my genes, as the muscle composition report informed me that I have muscles common in elite power athletes; my body contains more fast-twitch muscle fibers that provide a quick, strong muscle contraction, the kind of contraction required for sprinting, throwing, and heavy lifting. FINALLY – evidence to confirm why I’m not good at long distance running.
The sleep information was interesting, but it was something I already knew – that I was a deep sleeper and I move a lot while asleep. However, learning that I have a genetic predisposition to weigh more than average, helped to explain my years of endless exercise and struggles with weight. The only upside in this information is that 23andMe estimated that I would weigh 16% more than average for a woman with my genotype, age, and height. Because my weight is lower than my genetic result would predict, 23andMe applauded me, insisting that my “lifestyle and environment may be working to offset a tendency to weigh slightly more than you do.” Something good to hear!
23andMe has a large database of people and their DNA. Through this database, they are able to connect you with unknown relatives. People are asked if they would like their ancestry made public in order to connect with distant or not so distant relatives. You can remain anonymous and still see how many people in their database you are related to. You can even send messages to your DNA relatives as well.
If all of that information isn’t analyzed enough for you, there’s always Promethease.com. Promethease is not related to 23andMe, but they will take your raw genetic data and create another, more specific report. According to their website, Promethease builds a “personal DNA report based on connecting a file of DNA genotypes to the scientific findings cited in SNPedia (a wiki investigating human genetics).” In order to use their services, you must download your raw data from 23andMe.com. Then, for $5, you upload your raw data to Promethease. In minutes, I received an enormously long report about my DNA.
Even though this is a more scientific platform to view your genetic code, I was able to learn things here that 23andMe didn’t tell me. For example, I learned about my risk to develop certain cancers (like skin and thyroid cancer), musculoskeletal conditions (osteoarthritis and rheumatoid arthritis), as well as other conditions (depression and scoliosis). Interestingly, I learned that I produce higher levels of the appetite-stimulating hormone ghrelin, which increases my risk of obesity and type 2 diabetes by roughly 60%. I have always had a good appetite, but I love having the genetic information to back me up and explain my behavior.
There was also positive information I learned about my DNA, like my reduced chances of getting other cancers and a reduced risk of heart disease. Unfortunately, to this day, I never finished reading my Promethease report, since after looking through a couple hundred pieces of data, I had enough. It’s a lot of information to sift through, and some information is good, then some of it is bad; good data, bad data…this goes on and on as you continue to absorb all of the facts.
All in all, I did find the whole process fascinating…knowing that a couple teaspoons of saliva is all that’s needed to read my genetic code. Being able to test for diseases was very reassuring, as well as understanding that traits/behaviors like sleeping deeply or not being a good runner is all in the genes.
With any genetic testing, it’s important to talk to a genetic counselor when you receive these results. There is so much about genetic testing that people don’t understand. Also, there are always a lot of questions when something potentially problematic is revealed, so speaking with a genetic professional is crucial. Remember, having the gene doesn’t mean you will be affected. Lots of other factors come into play.
I think I found the most value out of the genetic health risk reports and the carrier status reports. The trait reports weren’t really useful to me, especially since it simply describes what I ‘probably’ look like. Learning about my ancestry was interesting, and finding out I was from more than two countries (what I’ve always been told), was cool to learn.
Overall, I’m glad I did the DNA test. I was fortunate that my 23andMe health results were mostly positive and I learned a lot about what makes me who I am.
If you want to learn more, head over to 23andMe online.
Have you tried genetic testing? What was your experience like? Let me know in the comments!
sources: 23andme.com, promethese.com, time.com, businessinsider.com