What's the News: When personal genotyping service 23andMe
was founded in 2006, most people were understandably focused on the benefits and the dangers of knowing your chances of getting an incurable disease. But a major part of the company's business plan was eventually leveraging their users' information to explore the genetic basis of disease. With more than 100,000 people now in their database, 23andMe has been turning that into a reality. They've just published their first paper focusing on the origins of disease, pinpointing two new areas of the genome involved in Parkinson's. How the Heck:
23andMe's primary service is identifying genetic markers called single nucleotide polymorphisms (SNPs). Certain versions of these markers---a certain snippet of DNA repeated, left out, or replaced---are linked to characteristics like cancer susceptibility or hair color. Users send in a sample of their saliva and get back their genetic fingerprint, or genotype.
Users can opt to let scientists use their genotypes in studies, and they can fill out online questionnaires about their medical histories and certain characteristics known to be genetically controlled, like finding broccoli bitter.
For the Parkinson's study, 23andMe worked with the Michael J. Fox Foundation, National Parkinson Foundation, and the Parkinson's Institute to collect genetic data from more than 3,000 patients suffering from the disease. The nearly 30,000 healthy controls, whose information was compared to the Parkinson's patients, were 23andMe users.
The researchers at 23andMe's research branch, 23andWe, identified two genetic variants that patients had but normal volunteers didn't. They also found that at least a quarter of the variability in the time of onset for late-onset Parkinson's is genetic. The timing of the early-onset variety, by contrast, was already known to have a large genetic component.
What's the Context:
Although the findings themselves are incremental, the fact that they were a byproduct of tens of thousands of consumers donating their information is exciting.
Last year, 23andMe's research arm, 23andWe, published a paper proving that their methods worked: With users' data, they were able to confirm the genetic connections between such common traits as hair curl and being able to smell asparagus in urine.
The company provides frequent online updates on its research, but this is the first disease research using 23andMe customers to be published in a journal.
The Future Holds:
23andMe has been building user communities of people with certain diseases, including Parkinson's, and they plan to undertake further studies with consenting users' data.
They've just confirmed that they are starting a partnership to study Alzheimer's with pharmaceuticals giant Genentech, which is currently developing a drug against the disease. According to Nature's Great Beyond, "it is the first collaboration between a drug company and a direct-to-consumer genomics to be made public."
Beyond its own research, 23andMe is a potential role model for younger personalized biology companies, such as Telome Health, which Nobel laureate Elizabeth Blackburn founded to commercialize tests for telomere length. If users of Telome's test could contribute their data to science, they could help answer the many remaining questions about telomeres and aging.
Reference: Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, et al. (2011) Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease. PLoS Genet 7(6): e1002141. doi:10.1371/journal.pgen.1002141
Image credit: pellesten / flickr