The Quantified Self has a follow-up to last week’s post about the reproducibility of SNP testing by 23andMe and deCODEme using Illumina SNP chips (see the Quantified Self’s post and my post). In that post, it was revealed that two comparisons of the 560,000 overlapping SNP results from the two different companies had revealed differences of just 23 locations for one individual and 35 for another.
Soon after last week’s post, one of these individuals – Ann Turner – contacted The Quantified Self with new information that 4 of the SNPs on her list of 35 disagreeing results are also on the other person’s list of 23 disagreeing results (Antonio Oliveira). From Ann’s email to The Quantified Self:
Four of those (rs11149566, rs4458717, rs4660646, and rs754499) were also found in Antonio’s list. That’s more than you would expect by chance.
Megan Smolenyak Smolenyak recently wrote “I’m a Euro-Mutt!” about the results of her AncestrybyDNAEuropeanDNA 2.0 test (from DNAPrint Genomics). Megan found that the results of her test were both expected and surprising! From DNAPrint Genomics’ website:
DNAPrintÂ® Genomics’ powerful new EuropeanDNA 2.0 product, further elucidates European sub-ancestry using 1,349 European Ancestry Informative Markers (SNP AIMs). This test reports a customer’s proportional basic continental European ancestry: Southeastern Europe (SEE – Armenian, Jewish, Italian and Greek), Iberian (IB -Spanish, Portuguese), Basque (BAS – Spanish/French Pyrenees border), Continental European (CE – German, Irish, English, Netherlands, French, Swiss and some Italian) and North Eastern European (NEE – Polish, Baltic, Swedish, Norwegian, Finnish, Russian) ancestry.
Forbes.com published an article today entitled “States Crack Down On Online Gene Tests” that examines New York state’s response to the recent launch of direct-to-consumer (DTC) genetic testing services by companies such as 23andMe, deCODEme, SeqWright, and Navigenics, as well as the behind-the-scenes companies like Illumina and Affymetrix.
Unfortunately, the regulatory environment surrounding DTC genetic services is hazy at best. From the article:
“Over the last six months, New York State’s Department of Health has sent letters raising the specter of fines and jail time to six online gene-testing firms that offer consumers the ability to peer into their genome to assess their future risk of getting diseases such as cancer, heart disease and multiple sclerosis. Often, it turns out, the services offering these DNA deep-dives are doing so without the involvement of a doctor. That puts them on the wrong side of the law.”
Navigenics, a genome scanning company, officially launches their genome service today – called the “Navigenics Health Compass”, with a cocktail reception in NYC tonight at 6:00PM. Thomas Goetz of Epidemix writes an article in Wired today about some of the differences between Navigenics and other large-scale genome scanning companies.
The launch is also mentioned in an exclusive interview at Genetics and Health with Navigenics’ medical director, Dr. Michael Nierenberg. This piece is the first article in a seven article series, including the future article 6, which discusses some of my favorite things: “Privacy, insurance, GINA, and ethics.” I’ll be sure to link to that article when it comes out. The launch is also discussed over at ScienceRoll.
MSNBC has a very short article entitled "DNA Testing: Would You Do It?" Last Friday, Linda Avey and Anne Wojcicki – co-founders of 23andMe – were interviewed by NBC News Correspondent Peter Alexander and Today show host Ann Curry to discuss the company. The 7.5 minute video is below:
The “Starting a Business” section of the online bizjournals site has an article called “Riding the Revolution” that reviews the success of the entrepreneurs behind the popular Family Tree DNA (who recently launched a new company called DNATraits).
The company was founded in April 2000 and is led by president Bennett Greenspan and chief operating officer Max Blankfeld. As the article details, the company has grown from $2.6 million in revenue in 2004 to $12.2 million in 2006, an incredibly impressive climb.
Part of the article describes the company’s future directions and challenges:
“The best solution to building an infrastructure is to be proactive, Blankfeld says, in areas such as human resources, technology and research and development. ‘We hired and keep hiring good people, whether for customer service or the lab; we invested in state-of-the-art equipment for the lab and we keep developing new tests that will respond to our customers’ needs,’ he says.”
Family Tree DNA announces a new SNP product for members of the R1b Y-chromosome haplogroup. The following was posted at the DNA-NEWBIE Yahoogroup by Max Blankfeld, Vice-President of Operations and Marketing at FTDNA:
Many of you have asked about, and have quoted Bennett Greenspanâ€™s comment at the 4th Annual FTDNA Conference on Genetic Genealogy, that in early 2008 weâ€™d be offering the R1b U SNPâ€™s, known as U106 and U152 (also called: S21/S28). We are pleased to announce today that a mini panel containing those SNPâ€™s (as well as U198 and P107) are now available.
Previously, FTDNA could SNP test for R1b1c1 through R1b1c8, but was not testing for R1b1c9, R1b1c10, or R1b1c11. The new SNPs will test for R1b1c9 (U106), R1b1c9b (U198), and R1b1c10 (U152). The P107 SNP is a private SNP within R1b1c9. The R1b tree is available through ISOGG:
With the popular African American Lives series on PBS and numerous news stories and magazine columns, Black History Month often results in increased attention to the genealogy and genetic history of African Americans. I saw a similar increased interest in genetic genealogy last February as well.
“One of the more fascinating developments with the new genealogy is the extent to which DNA testing is revealing the multi-racial ancestry of Americans. While thereâ€™s some controversy about the claims of DNA testing firms as to how accurately they can match individuals to ancestors from specific communities and ethnic groups, thereâ€™s a consensus that proper testing can roughly specify a personâ€™s relative mix of his or her ancestorsâ€™ geographic origins.”
Earlier today I posted about the recent updates to the 23andMe service, including an enhanced Gene Journal section and the new Paternal Ancestry.
To get a much more thorough analysis of these new additions, read David P. Hamilton’s “23andMe makes genomics personal â€” and slick” at VentureBeat: lifesciences. Hamilton’s articles are always insightful and well-written, and I would highly recommend this one, especially if you are considering a personal genomics service.
The Spittoon (23andMe’s blog) announces their new paternal ancestry tool. The information was already obtained from all male participants, so no further sampling is needed. I’m not sure which SNPs they are using to determine haplogroup status, but I’ll look into it.
The Gene Journal (here) adds 30 conditions and traits to bring the total number to almost 60. Interestingly, the conditions and traits are classified as either “Established Research” or “Preliminary Research” based on the studies from which they are derived.
And finally, there is a free demo account that “lets you explore all the features of our service using genetic data from our sample family, the Mendels.” It’s a good way to examine how the genomic data is analyzed and returned to customers using a browser interface.