I have written a lot about the Mountain View based personal genome start-up company 23andMe (February 14th, April 9th, June 19th, July 31st, and September 13th, to name a few). As a matter of fact, if you google â€œ23andMeâ€, The Genetic Genealogist is the second result.
Today, announced by an article in the New York Times (â€œMy Genome, Myself: Seeking Clues in DNAâ€) and Wired (â€œ23andMe Will Decode Your DNA for $1000. Welcome to the Age of Genomicsâ€), 23andMe has officially launched.
If you visit 23andMe, youâ€™ll notice that the site has been completely revamped, and they are now accepting orders for their Personal Genome Service, for $999.
So what does 23andMe offer? According to the companyâ€™s Genotyping Section:
â€œIn all, 23andMe looks at more than 500,000 SNPs scattered across the 23 pairs of chromosomes that constitute the human genetic sequence. We also look at a few thousand places on the mitochondrial DNA, an odd loop of genetic material outside the nucleus that is involved in producing energy for the cell.â€
23andMe is using the Illumina HumanHap 55+ BeadChip (more information from Illumina), which
â€œanalyzes more than 600,000 SNPs that cover the entire genome. Although this is still only a fraction of the 10 million SNPs that are estimated to be in the human genome, these 600,000 are specially selected because they provide a lot of information about other nearby SNPs. This maximizes the information we can get from every SNP we analyze, while keeping the cost lowâ€¦.In addition, we have hand-picked more than 30,000 additional SNPs of particular interest from the scientific literature and added them to the chip.â€
Once a customerâ€™s DNA is analyzed, the information is loaded into the secure database where it can be accessed and viewed by the customer. In the â€œgene journalâ€ section of the site, the customer can use â€œThe 23andMe Odds Calculatorâ€, which helps the user understand which â€œcommon health concerns are most likely to affect a person with your genetic profile.â€ It is absolutely vital to note that this calculation is NOT meant to serve as a medical diagnostic or medical advice â€“ it is merely a tool to learn more about an individualâ€™s DNA. The ability of science to predict disease based on genetics is still in its infancy, so 23andMe will continue to update the gene journal with new information and data as it becomes available.
There is additional information on the site for people who are new to genetics, including a Genetics 101 section, and a few relevant educational videos. They also have a section â€œfor the expertsâ€ with links and journal excerpts.
So What Does This Mean for Genetic Genealogists?
One of the categories of 23andMeâ€™s Personal Genome Service is their Ancestry section. A customer will be able to use the analysis to learn more about their genetic ancestry. As quoted above, the SNP chip will reveal massive amounts of information about the mitochondrial genome, and about autosomal ancestry (it appears that the company is still working on developing more extensive Y chromosome testing). I was especially impressed by the comparison of mitochondrial information obtained from 23andMeâ€™s test versus that obtained from previous genetic genealogy tests – 23andMe examines over 2,000 SNPs from the entire mitochondrial genome.
23andMe also provides analysis of the individualâ€™s autosomal ancestry. As the site points out, the tests â€œreads half a million locations in your autosomal DNA, giving you the most comprehensive, detailed picture of your ancestry that is commercially available. This means that 23andMe’s Ancestry tools provide you with more accurate, reliable data about your genetic similarity to populations across the globe.â€ Indeed, they will provide you with a Global Similarity Map and a Maternal Ancestry Tree, with the Paternal Ancestry Map soon to come.
For fellow genetic genealogists, 23andMe created a â€œfun facts about ancestryâ€ page with a little bit of genetic genealogy trivia, and an extensive reading list. There is also an entire section which asks â€œAre Warren and Jimmy Buffett Related?â€ (I blogged about this interesting analysis back in May of this year).
The Ever-Present Ethical Concerns:
It is vital that a genetic-related company address the ethical concerns that will be shared by their customers and the public in general. 23andMe attempts to educate potential customers through a number of different means. First, there is a â€œconsiderationsâ€ page that lists and discusses many of the potential drawbacks and caveats associated with genomic sequencing. These concerns are further addressed in the consent documents which are presented to the customer before they can purchase the test.
There is also a â€œpolicy forumâ€ which provides the companyâ€™s outlook on a number of controversial topics (including Direct-To-Consumer testing, Privacy, and GINA). As I am particularly interested in this area, I found this to be especially intriguing. There are also links for more information about these policy topics.
And from the NYT article, it appears that a customer is again presented with the many â€˜considerationsâ€™ before they can access their information.
For More Information:
According to a press release at BusinessWire, there will be a webcast media briefing hosted by co-founders Linda Avey and Anne Wojcicki on Monday, November 19, 2007 at 2:00 pm EST. The link is here. Iâ€™ll be in class, so hopefully it will be available somewhere later in the day!
TechCrunch has a post â€œ23andMe: Evil Or The Way Of The Future?â€ Thereâ€™s a lot of discussion going on in the comment section.
Thomas Goetz, the author of the piece in Wired, wrote a post about the experience in his blog Epidemix (a fellow blog from The DNA Network). Mr. Goetzâ€™s grandfather died at the age of 65 from heart disease, and as a result he hoped to learn more about his own risk â€“ which, it turns out, is not evident in his DNA. The article is fantastic, and I highly recommend reading it (it also has a short video interview with Linda Avey and Anne Wojcicki). The last paragraph sums up some of my own feelings on the subject:
â€œâ€¦Wojcicki is onto something when she describes our genome as simply information. Already, we calibrate our health status in any number of ways, every day. We go to the drugstore and buy an HIV test or a pregnancy test. We take our blood pressure, track our cholesterol, count our calories. Our genome is now just one more metric at our disposal. It is one more factor revealed, an instrument suddenly within reach that can help us examine, and perhaps improve, our lives.â€
I also recommend reading the New York Times article by Amy Harmon. Ms. Harmon had the opportunity to be one of the first to undergo 23andMeâ€™s Personal Genome Service. Although she had many questions leading up to the test, by â€œthree weeks later, I was already somewhat addicted to the daily communion with my genes.â€