Review: 23andMe DNA Testing for Health, Disease & Ancestry

Okay I know what you’re thinking — why is some genetics testing service being reviewed on Stammy‘s tech blog? Well for one, because 23andMe is at the forefront of technology that is slowly but surely enabling the general public to get access to their genome data that would have cost thousands of dollars just a few years ago. I heard about 23andMe in 2008, when they were charging $1,000 for a DNA test and access to the results. Now the price is somewhat more reasonable, but still expensive at $399 for access to ancestry information, $429 for health or $499 for both. Each of those prices is just for one person. 23andMe operates in the personal genomics space and they have a few competitors like Family Tree DNA and Navigenics among others.

I decided to give them a shot for almost entirely one reason — Google co-founder Sergey Brin. He not only financially backs 23andMe but he’s married to 23andMe co-founder Anne Wojcicki. Brin blogged about how he used 23andMe to learn more about Parkinson’s disease in his family:

But, of course, I learned something very important to me — I carry the G2019S mutation and when my mother checked her account, she saw she carries it too.

The exact implications of this are not entirely clear. Early studies tend to have small samples with various selection biases. Nonetheless it is clear that I have a markedly higher chance of developing Parkinson’s in my lifetime than the average person. In fact, it is somewhere between 20% to 80% depending on the study and how you measure. At the same time, research into LRRK2 looks intriguing (both for LRRK2 carriers and potentially for others).

This leaves me in a rather unique position. I know early in my life something I am substantially predisposed to. I now have the opportunity to adjust my life to reduce those odds (e.g. there is evidence that exercise may be protective against Parkinson’s). I also have the opportunity to perform and support research into this disease long before it may affect me. And, regardless of my own health it can help my family members as well as others.

I’ll be honest, a lot of the technology and processes employed by 23andMe go right over my head. The gist of it seems to be that they use single-nucleotide polymorphism (SNP) genotyping to analyze more than 580,000 locations in a person’s genome and find DNA sequence variations. They then compare that to known clinical and research reports backed by many trials proving correlations that certain SNPs have with disease risks and traits, with a certain amount of accuracy (the more people in the study, the more accurate). SNP genotyping is not the same as Full Genome Sequencing, a more complex and accurate process, which used to cost around $50,000 per person just a year ago but is now in the sub-$5,000 range. IBM received some press in late 2009 with their efforts to get that down to $1,000 through their “DNA transistor” breakthrough.

In a nutshell: personal genetics testing is still maturing and will provide an important platform for medical breakthroughs such as personalized medicine in the near future. At the moment, companies like 23andMe have preliminary offerings aimed at providing consumers with a useful glimpse at what can be found in their DNA: basic ancestral origins, trait comparisons to other individuals, likelihood for certain known diseases and so on. As I will discuss later on, the means through which this data is gained cannot be trusted 100% and it is not entirely clear at all times whether 23andMe uses general data about ethnicity to provide risk correlations (ie, if you are European you are more likely to…) or personalized “only you” type stuff.

Disclosure: I personally paid $413.95 for the Ancestry Edition then approached 23andMe about receiving an upgrade to the Complete Edition for purposes of this review. They upgraded my 23andMe account free of charge (would have cost me $100).

Um… Why?

Why would I ever plunk down a several hundred dollars to learn more about my genetics? Primarily — I enjoy discovering new technologies and services first-hand (if you haven’t noticed already, I’m an early adopter) so this new-to-me industry was extremely interesting and I just had to grok it. While purchasing this kit I did not know what to expect.. at all. I had grand expectations of having a detailed family tree practically created for me, going back many generations, or getting a peek at how my genes affect my health.

Unboxing

After ordering the kit online, I received a small box soon after. It was pretty light and there wasn’t much inside: a spit tube contraption, some documentation, a specimen bag and padded mailer.

Spit Acquisition and Delivery

There was not much involved with sending my DNA sample to 23andMe: spit in the tube a few times to fill it up, close the flip top, unscrew it, replace it with a small cap, shake it up to mix the saliva with the preservation fluid that was in the flip top, place in the specimen bag and mail it to 23andMe.

After sending the DNA sample, I had to wait around 2-4 weeks to receive access to my results online. But before that could happen I had to setup my 23andMe account and claim my kit with a number that came on the spit tube.

Online Account Setup

As you might imagine with such a sensitive subject, there are a few forms you have to read and accept before you can finalize your 23andMe account.

After typing in the claim code I was greeted with a lengthy document to read through.

Here are some items in the agreement that I found worthy of mentioning:

• While certain genetic markers—SNPs in this case—are associated with a higher incidence of certain diseases or health conditions in certain populations, accessing your genetic information through 23andMe does not translate into a personal prediction
• Furthermore, the 23andMe Personal Genome Service is not a test or kit designed to diagnose disease or medical conditions, and it is not intended to be medical advice.
• While we measure many hundreds of thousands of data points from your DNA, only a small percentage of them are known to be related to human traits or health conditions. The research community is rapidly learning more about genetics, and an important mission of 23andMe is to conduct and contribute to this research. By obtaining 23andMe’s services, you are agreeing to contribute your genetic information to our research efforts as described below. These efforts could translate into meaningful information about your genetics.
• You may learn information about yourself that you do not anticipate. This information may evoke strong emotions and has the potential to alter your life and worldview. You may discover things about yourself that trouble you and that you may not have the ability to control or change (e.g., your father is not genetically your father, surprising facts related to your ancestry, or that someone with your genotype may have a higher than average chance of developing a specific condition or disease). These outcomes could have social, legal, or economic implications.
• Genetic data you share with others could be used against your interests. You should be careful about sharing your genetic information with others. Currently, very few businesses or insurance companies request genetic information, but this could change in the future. While the Genetic Information Nondiscrimination Act was signed into law in the United States in 2008, the protection it will provide against discrimination by employers and health insurance companies for employment and coverage issues has not been clearly established.
• Genetic research is not comprehensive. Many ethnic groups are not included in genetic studies. Because interpretations provided in our service rely on these published studies, some interpretations may not apply to you.

From that agreement I gathered that 23andMe is experimental and very much a work in progress and that I should not put full confidence in my personal results nor use those results to change the way I currently live.

After that legalese there was a page asking whether I wanted to have my saliva sample biobanked. Biobanking lets 23andMe keep my DNA sample on hand for up to 10 years. I can see potential cases where this might come in handy when they release a new feature of DNA analysis — be it advanced SNP genotyping or a take at FGS — and this would allow me to not have to send in another DNA sample.

That’s the last step in the signup process and now I just needed to wait for the DNA sample to arrive and the results to be processed.

To kill time, 23andMe has lots of surveys users can fill out, ranging from medical history and health habits to a survey about optimism. But I digress, you’re here to read about the results.

Ancestry

I will split the results by Ancestry and Health, since those are two separate versions people can purchase individually or together as the Complete Edition. After a few weeks I got an email saying my results were available online. The first thing I learned was my maternal and paternal haplogroups. Yeah, that was my first reaction too — what’s a haplogroup? Fortunately, 23andMe has lots of explanation for every term used on the site.

Haplogroups are families of mitochondrial DNA types that all trace back to a single mutation at a specific place and time. Technically, every new mutation creates a new haplogroup, but geneticists only label the ones that help them trace significant events in human prehistory, such as the migration of people to the Americas or the expansion of agriculture from the Near East.

I discovered my maternal haplogroup was J1a* and my paternal haplogroup was T. 23andMe also provides some fun comparison info — for example Thomas Jefferson had the same paternal haplogroup. The site also provides haplogroup trees but they were of no use to me other than an interesting information visualization. So far I haven’t learned anything remarkable about myself.

More screenshots: Paternal Haplogroup Map, Paternal Haplogroup History, Paternal Haplogroup Tree, Maternal Haplogroup History

Then there is something called Ancestry Painting which displays colored graphics of my chromosomes to trace their ancestry by indicating the geographic origins of each chromosomes and their segments. Mine are all the same color, the key for which tells me I am 100% European. Again, something I already knew but interesting to see verified nonetheless.

Moving on, there is a Global Similarity feature that tells me I am most similar to people from Southern Europe and has a chart conveying my similarity to other people based on geographic origins. Again, nothing quite mind-blowing.

Then there is Ancestry Labs that has some experimental features like “Haplogroup Tree Mutation Mapper” and “Family Inheritance: Advanced.” The former was of little use to me and provided me with some raw data while the latter, described as “Compare your DNA, bit by bit, to see what segments you share with close and distant family”, would be interesting if I had any family or relatives on 23andMe that took the DNA test as well and shared their genomes with my account.

So far.. well I am kind of disappointed. I have not learned much about my ancestry that I did not already know but what I did already know was presented to me in an instructional manner with nice graphics and background information. Oh, but what is this Relative Finder feature I seemed to have skipped over?

23andMe found 17 people in its database (of around 35,000 people) that it thinks might be 3rd, 4th, 5th or distant cousins of mine. This got interesting when one of them, marked as a 3rd cousin, contacted me. The site has a unique way of letting potential relatives contact each other, with privacy in mind first. Before I could continue contacting the relative there was a warning about how reaching out to potential relatives may freak them out or be unwanted news (in more professional terms of course). It should be noted that 23andMe users can opt out of this entirely. There are two checkboxes in the privacy tab of the settings:

• I do not want to receive sharing invitations from anyone.
• I do not want to participate in Relative Finder.
  
  

  By checking this box, your profile (Paul Stamatiou) will not be able to use Relative Finder to view or contact relatives. Also, you will not show up in other people’s Relative Finder results. If you change your mind, you may re-join at any time by unchecking the box.

I accepted my potential 3rd cousin’s request for contact and I shared my genetic data with him and he shared his as well.

23andMe lets you share this data in stages — Basic and Extended — depending on how much access you want to provide this person. This let me use the Compare Genes feature to see some neat similarities I share with this person.

At the moment I am still talking with this person to verify if and how we are actually related. He currently lives in a part of Greece (Heraklion, Crete) where my mother is from, so there’s a good chance he is a relative. 23andMe states that his paternal haplogroup is the same as my maternal haplogroup, so by that I know my mother’s side of the family could be related to his father’s side (Update from comments: turns out the haplogroups just have the same name and are unrelated). We are exchanging family information like last names of other relatives and so on. Google tells me he is a computer-savvy 30 year old. Then again I have many 2nd and 3rd cousins all over Greece so it’s not like this was a landmark discovery. However, the chances that someone related to me in Greece heard about some genetic startup called 23andMe and forked over the many Euros to try this service must be fairly small.

Relative Finder is one of the newest features at 23andMe and by far the most useful in my opinion, even compared to some of the health features below.

Health

Now on to the reports 23andMe provides with their Health Edition. There are three sections: Clinical Reports, Research Reports and Health Labs. There are currently 51 clinical reports on the site divided up into categories of Carrier Status, Disease Risk, Drug Response and Traits. Clinical reports are the most accurate of any other health-related data on the site:

Clinical Reports give you information about conditions and traits for which there are genetic associations supported by multiple, large, peer-reviewed studies. Those associations must also have a substantial influence on a person’s chances of developing the disease or having the trait. Because these associations are widely regarded as reliable, we use them to develop quantitative estimates and definitive explanations of what they mean for you.

Research reports on the other hand give you information based on research with limited scientific evidence and have thus not been demonstrated through large, replicated studies. 23andMe currently provides 88 research reports.

Similar to how there is an Ancestry Labs section, 23andMe also has Health Labs for showcasing experimental features that “may still be in development, require specialized knowledge or be of interest only to a subset of our customers.” Currently I only see three inside of Health Labs: Reynolds Risk Score (10-year risk for heart-attack), Genetic Weight Calculator (how much of your weight you can blame on your genes) and ABO Blood Type (find your probable blood type).

While I did not find much value in the Ancestry Edition results, with the sole exception of Relative Finder, Health Edition results were more intriguing and provided me with little tidbits about myself. Of those tidbits was a laundry list of diseases I might be at risk for: something that might be heavy news for many folks and explains why 23andMe warned about the effects of receiving such information in their legal and consent agreement. Nothing I learned about myself was life-changing but I did learn some interesting things. For example, according to a research report (not clinical), my body metabolizes caffeine quickly and does not increase my risk of heart attack and may even reduce the risk. That is relevant to my interests as I have a passion for all things caffeinated, although I have stopped drinking soda ever since I got out of college. According to a clinical report I have two working copies of a fast twitch muscle fiber, which potentially makes me well-suited for thngs like sprinting versus endurance running. I also learned that I am resistant to norovirus strains (“stomach flu”) and that I have a decreased risk of developing Parkinson’s disease based on the research currently available (I lack the LRRK2 G2019S mutation).

23andMe has several reports that are “locked.” When clicking on these reports, users are told how the information to be presented is not thorough and only checks certain mutations associated with the disease or carrier at hand. The user then must click through to unlock the report. Several reports also have useful sections explaining genes versus environment that describe how genetic factors may contribute more or less than environmental factors.

Advanced

For those that are more do-it-yourself and were awake during their 8am honors genetics and bioinformatics collegiate class, 23andMe also offers full access to raw data.

Verdict

I acknowledge that many people have no desire to pay $400-$500 for this type of information. On the other hand, a growing minority of people find great value in 23andMe’s offerings. I believe it is a remarkable field and we are living in a great time to have such advanced personal genetics information readily available to the public. If 23andMe’s legal and consent agreement offers any hints, it is that this is by far a very early-stage offering and results are not as accurate as they could be. That being said it is msot definitely a great insight into what is to come. Clinical and research reports are continually being added and updated.

I had a hard timing trying to decide how to rate 23andMe. There are a few reasons. For one, it’s a relatively new company in a developing space trying to offer cost-effective solutions to the public. You know how technology works; you just can’t expect any just service to be perfect the first time around, especially in such a volatile space where new processes are being evaluated incessantly. Second, 23andMe’s offerings become exponentially more useful the more people in your family you add to your account. You can compare genome data, build a family tree, see what traits might get passed down to potential offspring, find out what disease risks run in the family and much more. Of course that would run $400-$500 per person. Perhaps a family package would be interesting: $1,500 for up to 5 people.

23andMe receives 8 out of 10 Stammys.

What do you think about 23andMe and services like it in general? Would you be interested in trying it out? If not, why? Privacy reasons or cost? At what price would you consider checking out such a personal genetics service. What interests you most about this space? Leave a comment down below and let me know whats on your mind! Thanks.

Notice: To protect myself from this data getting in the hands some potentially evil entity, like my health insurance company, I have manually altered some data presented in screenshots via Firebug (not Photoshop, aside from blurring out someone else’s name). This does not affect anything in my review or how their results look.

Update 3/5/10 @ 6:15pm: Some great conversation about this post going on at Louis Gray’s Google Buzz, including some comments by Linda Avey of 23andMe:

This is one of the most thorough and accurate summaries I’ve seen (I’m the co-founder of 23andMe). One small point…the testing technology 23andMe uses is highly accurate, it’s just the interpretation of what the datapoints means which is, in some cases, early and subject to revision (this would be equally true if you sequenced the entire genome vs. genotyping, which is the SNP-based technique used by 23andMe).

Getting wider diversity in genetics research is a key objective of 23andMe…need to figure out ways to attract people of all backgrounds. Once we have enough representation of any given population, the statisticians can see if genetic associations replicate (or discover new ones!). Filling out the surveys is a much-appreciated contribution.

-Linda Avey

People: Anne Wojcicki, Linda Avey, Sergey Brin

Tagged as: 23andMe, bioinformatics, DNA, DNA testing, family tree, genetic research, genetic testing, Genome, genotyping, Google, Health, navigenics, personal genomics, Reviews, SNP, Technology

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