23andMe has been the subject of much discussion in the biotech and personalized medicine circles of the blogosphere (See here, here, here, here, here, here, here, and here for plenty of information/speculation/discussion).
In August, 23andMe announced (â€œ23andMe and Illumina Forge Consumer Genomics Goliathâ€) that they have partnered together to offer â€œconsumer genotypingâ€ – more about that in a minute.Illumina produces â€œSNP chipsâ€, chips that can test a genome for thousands of SNPs (single nucleotide polymorphisms) at a time.For example, the company has one chip that tests one million SNPs for as little as $600, and another chip that tests 550,000 SNPs (the HumanHap550) for only $300-$450.Interestingly, Illumina is also able to custom build chips to add specific SNPs if the customer so desires.Additionally, as the announcement touted, Illumina is also exploring the world of inexpensive whole-genome sequencing, suggesting that this partnership with 23andMe could transition from cheap SNP testing to cheap whole-genome sequencing at some point in the future.
A very interesting article in the New Scientist published last week by Peter Aldhous examines the approach of affordable whole-genome sequencing. The article mentions 23andme, the recently published genomes of James Watson and J. Craig Venter, and the Personal Genome Project.
“Thanks to the advances in sequencing technology, that might be done for as little as $1000 per person. â€œDNA chipsâ€, meanwhile, can scan your genome for common â€œspelling mistakesâ€ for just a few hundred dollars. At that price, the era of personalised genomics is already dawning. â€œThis is the year,â€ claims [Dr. George] Church.”
Mr. Aldhous’ article doesn’t shy away from the hard stuff either. Although I could potentially obtain my entire genomic sequence if I had $1 million lying around, very little of the information would be interpretable. We still have so very much to learn about our DNA. A great quote comes from Michael Egholm of 454 Life Sciences:
A news release announces the completion of a DNA collection project by SMGF (Sorenson Molecular Genealogy Foundation) in Mongolia.The goal of the project is to study the descendants of ancient nomads from the Eurasian steppes.The collection was performed in conjunction with the National University of Mongolia and represents â€œthe most comprehensive [DNA collection project] in the history of Mongolia, incorporating all of the countryâ€™s geographic regions and major ethnic populations.â€In total, more than 3,000 DNA samples and pedigree charts were obtained from 24 different ethnic groups.
According to the news release, the â€œglobal fascination with Mongolian icons such as Genghis Khan and Attila the Hunâ€ played a role in promoting the project:
I recently had the opportunity to talk with Dana Waring, a member of Ting Wu‘s lab at Harvard and one of the creators/caretakers of the pgEd, the Personal Genetics Education Project. It was a fascinating conversation about the future of personal genetics and the dire need for more education of the public in this field. You can see a few recent mentions of the pgEd from other members of the DNA Network – EyeonDNA, and genomeboy.com.
I was very interested in Dana’s project, and she was willing to share more information with me and my readers via the following email interview:
TGG: How did you get involved with the Personal Genetics Education Project?
The Personal Genetics Education Project is based in the Wu lab at HarvardMedicalSchool. The main research focus of the lab is in a branch of epigenetics called homology effects, where the presence of homologous sequences can dramatically affect gene expression. Professor Wu wanted to add a new dimension to the labâ€™s focus, looking at the potential social impact of genetic testing becoming mainstream – personal genome sequencing to be exact.My background in womenâ€™s studies, the history of science, and higher education seemed like a good fit to explore some of the ethical, legal, and sociological ways genetics will personally impact people.With the Archon X Prize for Genomics and the Personal Genome Project well underway, it is clear that the science is moving very fast.
Wow, what a day for personal genetics. Yesterday, J. Craig Venter’s diploid genome was released (I’m not sure where the sequence is, but the paper is available at PLoS Biology, a OPEN ACCESS journal!).
I know that many people have their gripe about Venter, but seeing a story about personal genetics on the front page of CNN is important. It educates people and helps alleviate fears about genomic sequencing. I think it’s a great opportunity for the field. Here’s a few quotes from the CNN story:
“Venter has just published almost all 6 billion letters, or 96 percent, of his own personal genetic code in the journal PLoS Biology. From diseases to personality traits, it’s the most comprehensive human genome to date. Venter’s gene map provides a new understanding of his genetic destiny, according to the DNA inherited from both his father and his mother.
As I mentioned back in June,Â Ancestry.com has teamed up with Sorenson Genomics to offer DNA testing.Â Today I received the following notification announcing the beta launch of dnaancestry.com.Â A Y-DNA test with 33 markers will be $149, while a Y-DNA test with 46 markers will be $199 (if you look at the sample results page, you’ll see a list of the 46 markers tested).Â An mtDNA test will be $179, although the exact testing parameters for the mtDNA test are unclear at this point (the website only states that HVR1 and HVR2 will be sequenced).
Introducing DNA Ancestry
We want you to be one of the first to know weâ€™re adding a powerful new dimension to genealogical research by integrating the worldâ€™s largest online collection of historical records and family trees with DNA testing. Currently in beta, DNA Ancestry is another way weâ€™re helping people expand their family trees and connect with family across distance and time.
I just learned at the PCD Foundation Blog that a “hold” has been placed upon GINA in the Senate.Â The bill flew through the House of Representatives, and President Bush has said that he would sign the bill into law, but it is now stuck in the Senate.Â Senator Tom Coburn, M.D., A Republican from Oklahoma, has placed the Hold on the bill.Â According to Senator Coburn’s Wikipedia article:
“According to the Boston Globe, Tom Coburn has blocked passage of the Genetic Information Nondiscrimination Act (GINA), a bill that would prevent health insurers and employers from using genetic information in decisions of employment or insurability. Senator Coburn objected to provisions in the bill that allow discrimination based on genetic information from embryos and fetuses. Recently, the Boston Globe stated that the embryo loophole has been closed, and that Tom Coburn is reevaluating his opposition to the bill.”
Some interesting news in the field of personal genomics:
A terrific article by David Hamilton at VentureBeat Life Sciences about Navigenetics, a new competitor for personal genomics business.Â However, Navigenetics has stated that rather than being a direct competitor to 23andMe, the companies can compliement each other.Â According to the article:
Dogs, just like humans, have interesting genealogical histories.And a new DNA test unveiled by DNAPrint Genomics will help you examine your dogâ€™s genetic past.The test is aimed at uncovering the relative percentages of four ancient ancestral breeds in a modern dog â€“ wolf-like, herders, hunters, and mastiff.The test, which will retail for $99, examines 204 canine Ancestry Informative Markers (AIMs) in the dog genome.For more information, go to www.doggiednaprint.com (not working as of 08/18).
â€œThe test will contain a consent form, mouth swabs, swab envelope, as well as a return envelope.Simply fill out the consent form, follow the step-by-step cheek swab instructions and send the completed consent forms and test swabs in the enclosed return envelope. Within six to nine weeks, participants will receive the results of their dog’s DNA test. These will include raw genetic data, a graphic depiction of the animal’s DNA plus information on how to interpret the results of this DNA test.â€
An article in today’s New York Times discusses some of the major players in genealogy, including the Generations Network, a brief mention of DNA testing, and the Family History Library in Utah.
Although the article, “Latest Genealogy Tools Create a Need to Know” is hardly groundbreaking or thorough, it might be interesting to those who are new to genealogy.