I've gotten my genome analyzed by 23andMe, and would like to share my impressions of the service and the value of what I've learned about my health propensities and ancestral background. I've also used DeCODEme, and while that service has some clear benefits, I think 23andMe gives you the best "bang for your buck." If you're curious about personal genome testing and wonder if it's worth it, I'd say that it would be the first to try.
Cost: 23andMe now charges $99 for their full (health and ancestry) scan, plus a required $9/month one-year subscription, with a total cost of $207, which is considerably cheaper than Navigenics ($999) and DeCODEme ($2000). If you want updates beyond the first year, you will have to continue your subscription, though, currently set at $9 per month.
Time for Analysis: After ordering online, you get your "spit kit" within a few days. You fill a small vial with your own saliva, and then return that via a courier service envelope to their headquarters. From the time I mailed back the "spit tube" back to 23andMe and when I got my results online, it took about 3 weeks.
Technology and Depth: The third-generation chip 23andMe currently uses, the Illumina OmniExpress Plus Genotyping Beadchip (the company used the Illumina HumanHap 550+ BeadChip before then), reads over 1 million SNPs (the original HumanHap 550+ read about half as many) that the company has determined is meaningful for health and genealogical analysis. SNPs, or Single Nucleotide Polymorphisms, are the base-pair variations that code for genetic difference.
There are about a total of 10 million SNPs in the human genome, but most have not yet been sufficiently analyzed to be meaningful.
23andMe's health analysis currently gives you insight into:
- 86 disease risks, for conditions like esophageal cancer, Type 2 diabetes, and Crohn's disease. You get your estimated lifetime risk, the average estimated lifetime risk for comparison, and, if you dig further, estimates of how much a particular disease's risk is influenced by genetics as opposed to environment. For each condition, 23andMe reports their confidence level, based on the number of studies correlating SNPs to disease risks and the relative certainty of those correlations.
- 24 carrier statuses, which can be useful in terms of family planning. You can see if you're a carrier (i.e. not afflicted with the disease, but able to pass the genes for it to your children) for conditions like hemachromatosis, phenylketonuria, sickle-cell anemia or cystic fibrosis.
- 18 drug response indications, or whether you'd need more or less than the average person for certain drugs to be effective for you. I found out I have increased sensitivity to warfarin, so would need a smaller dose than most if I ever needed it. I also found out I'm a slow caffeine metabolizer, which is extremely important to know for your cardiac health.
- 41 traits, or interesting-to-know things about yourself. The genetic test accurately predicted my eye color, hair texture, and even ear wax type (there are wet and dry variants!). Other interesting traits tested include lactose intolerance, male pattern baldness, pain sensitivity and longevity.
23andMe Ancestry (Genealogy)
The other side of 23andMe's offering is a glimpse into your ancestral background, through your maternal line (your mother's mother's mother's mother's....mother) via your mitochondrial DNA, and, if you're male, your paternal line (your father's father's father's....father) via your Y chromosome. This can be interesting and fun, but isn't necessarily as "useful" as the health segment of the service.
First, you get a look at the haplogroup(s) of your maternal and/or paternal lines, where the haplogroups are concentrated worldwide, and a rough idea of where your ancestors migrated from.
Next, the global similarity and ancestry painting let you know where you can find yourself among different world populations, and how much of your genes you can trace back to Asian, Native American, European and African roots. These are strikingly similar to DeCODEme's features.
Finally, a unique and very clever feature is the Relative Finder. 23andMe will "guess" who could be distant...or even close...relatives from among other users on the site. No information is given about each possible relative until you've both consented to share your data with the other. I was able to find someone in Australia that 23andMe guesses is my 5th cousin; he does have the same ethnic background as my mother, so there might be a connection. It might be more interesting to find someone who might be a 2nd or 3rd cousin that you might not know about.
Other features: Both the health and ancestry sides of the service have "lab" features, or cool calcuators and mashups that can give you other more geeky views into your genes. Here are two of my favorites:
Reynolds Risk Score: Based on your age, weight, blood pressure, cholesterol, and C-reactive protein levels...and genetic components...you'll get the likelihood of having a heart attack over the next ten years. It even tells you how much your risk will change if you reduce your cholesterol by a certain amount, reduce your blood pressure by a certain percentage, etc. Powerful stuff!
Family Inheritance: Advanced: This shows you how much of your genome, by stretches of identical DNA, you share with your "friends" (people you have agreed to share data with). My brother and I shared probably about 50% of my genes with my brother, but only a tiny segment with that 5th cousin 23andMe identified. If you were a total "gene geek", and both of your parents were 23andMe users, you could figure out which genes you got from your father and which from your mother, stretch by stretch.
Risks: Maybe you'll find out something disturbing about your genetic background. (In fact, for certain conditions like Parkinson's, you must opt-in twice to get information, since there's nothing you can do in some cases with that information.) The risk that the data will be used by health insurance companies against you has pretty much been obviated by passage of both the GINA -- or Genetic Information Nondiscrimination Act -- passed in 2008, which forbids genetic information from being used to discriminate against you in getting health insurance, and by the recent health care reform legislation (Health Care and Education Reconciliation Act), which prevents insurers from denying coverage for pre-existing conditions. If you're really paranoid, though, you could conceivably sign up through an anonymous account and pay with a pre-paid credit card.
Final: I think $207 to learn such rich insights about yourself is a bargain. To know, for example, that I'm a slow caffeine metabolizer, and that reducing caffeine would be a good idea for my cardiac health, is worth the cost of the test alone. Check out my comparison of 23andMe and deCODEme if you're considering both services and want to know the relative merits of each.
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