From the 90s pharmacogenomics attempted to harness the power of genetic information by correlating gene expression or single-nucleotide polymorphisms with a drug's efficacy or toxicity thereby personalising and optimising drug therapy. Large scale pharmacogenomics is still unproven so far. But ever since the completion of the Human Genome Project in 2003 there were hopes within the biotech industry that all the new and aggregated genetic information could be harnessed and commercialized. From the technological side the falling price of genotyping microarrays spurs a wave of research and in May, 2007 the genome of James Watson was sequenced followed by the published whole genome sequence of Craig Venter in September. Meanwhile the Personal Genome Project lead by George Church is recruiting volunteers to develop affordable "personal genome sequences" and a variety of user-friendly applications of such data.
But the real jump into the deep comes in November when the newly launched, Mountain View based 23andMe 23andMe is the first and web based biotech company offering personalized genome service to its customers including interpreted and probabilistic information on the health risks of the customer’s genetic profile. 23andMe opens for business, offering retail genotyping for $1,000. Other contenders include Navigenics, a startup planning to launch early next year; DNA Direct, which already offers individual gene tests online; and DeCode Genetics, which conducts original research and is developing new drugs.
According to 23andMe:
23andMe looks at nearly 600,000 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. The technology that we use, the Illumina HumanHap 550+ BeadChip, analyzes more than 550,000 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 550,000 are specially selected because they provide a lot of information about other nearby SNPs. 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. As a result, we can provide you with unique, genetic information available through no other service.
What does the process at 23andMe look like? Customer is building the order online, spit 2.5 mls of saliva into a plastic tube in the postal delivered Saliva Kit, FedEx the saliva back to Mountain View, wait a couple of weeks for an email.
Once a customer’s DNA is analyzed, the information is loaded into the secure database where it can be accessed and viewed by the customer. Says Thomas Goetz in Wired:
"There are three main sections to the Web site: Genome Labs, where users can navigate through the raw catalog of their 23 pairs of chromosomes; Gene Journals, where the company correlates your genome with current research on a dozen or so diseases and conditions, from type 2 diabetes to Crohn's disease; and Ancestry, where customers can reach back through their DNA and discover their lineage, as well as explore their relationships with ethnic groups around the world. Family members can share profiles, trace the origin of particular traits, and compare one cousin's genome to another in a fascinating display of DNA networking. In the “gene journal” section of the site, the customer can use “The 23andMe Odds Calculator”, which helps the user understand which “common health concerns are most likely to affect a person with your genetic profile.” It is absolutely vital to note that this calculation is NOT meant to serve as a medical diagnostic or medical advice – it is merely a tool to learn more about an individual’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 are other cautions too that should be addressed concerning the scientific background of 23andMe's technology. David Ewing Duncan writes:
"Scientists and ethicists warn that the understanding of most genes remains a work in progress—and, as a result, users could make life decisions based on incomplete or erroneous science. “Just because we have identified a gene doesn’t mean its function or its impact has been thoroughly understood or that having a gene has any real predictive value,” says Francis Collins, who led the international consortium that sequenced the human genome and now directs the National Human Genome Research Institute."
Another problem could be the sporadic occurrence of paternally inherited mitochondrial DNA in the offsprings because all the calculations used by 23andME's Maternal Ancestry Service based on the assumption that mitochondrial DNA is only inherited maternally.
- preventive lifestyle based on personal genetic information.
- The life extension bonus effect of personal genome services: +10 years?
- social networking XY.0 based on shared genotypes
- redefinition of genetic privacy rights
- health insurance problems
- the rise of genetic literacy and biological knowledge amongst laymen, but half--digested genetic information could easily be misleading
Professional Media:
Wired: 23AndMe Will Decode Your DNA for $1,000. Welcome to the Age of Genomics
Slideshow: The Business of Genomics
David Ewing Duncan: Welcome to the Future
New York Times: My Genome, Myself: Seeking Clues in DNA
Blogosphere:
The Genetic Genealogist: 23andMe Launches Their Personal Genome Service
Pimm: inF.A.Q. for 23andMe: what if I have mitochondrial DNA from Pa?
Pimm: The life extension bonus effect of personal genome services: +10 years?
Gene Sherpas: Not with a Bang...The Death of Personalized Medicine