One of 23andMe’s core missions is to accelerate the pace of scientific research and contribute to our understanding of the genetic basis of human health and traits. Central to this mission is our growing database of genotyped customers who have consented to allow us to incorporate their genetic data and responses to online questionnaires into research on all sorts of conditions, from Parkinson’s disease (PD) to the tendency to sneeze in bright sunlight (the “photic sneeze reflex”). We call this collective research effort 23andWe.Last June, 23andMe published its first peer-reviewed scientific paper in PLoS Genetics, presenting the results of analyses for 22 common traits in individuals of European ancestry. Nearly 10,000 participants in our database answered one or more surveys about skin pigmentation, hair characteristics, photic sneeze, asparagus anosmia (the ability to smell asparagus metabolites in your urine), motion-sickness, and handedness, among other traits. The results yielded discoveries of new genetic links to four traits, including the first-ever genetic associations reported for asparagus anosmia and the photic sneeze reflex. In addition, we confirmed many associations identified previously by other researchers.Since then, the engine behind 23andWe has been steadily churning. More and more customers have been signing up and contributing to genetic research. At a recent scientific conference, 23andMe researchers presented preliminary findings from studies uncovering novel genetic links to childhood and adult infections, Parkinson’s disease, and hair traits, as well as studies that replicated more than 100 previously-identified genetic associations for dozens of common diseases and medical conditions. Although the results still need to be reviewed for publication in the scientific literature, this latest batch of studies — performed in a fraction of the time normally needed for studies of this type — is a testament to the power of the 23andWe research model.So what are we working on now?
- As part of our Parkinson’s Disease initiative, we are following up on several SNP associations we’ve identified, and are working on improved methods for risk prediction that combine information across many SNPs. We are also conducting a study to develop and validate a new series of surveys for potential PD risk factors.
- We are participating in an international “meta-analysis” of male pattern baldness. Results from our own analysis of baldness in 23andMe customers will be combined with results from five other studies, which is a more powerful approach than just evaluating each study separately. We have some very interesting preliminary findings and we expect that this study will lead to a scientific publication in early 2011.
- We have a collaboration with the ALSPAC project (Avon Longitudinal Study of Parents and Children), which is an ongoing study of more than 10,000 mothers and their children, recruited in the Avon area of England from1991-1992. 23andMe has genotyped the children (now young adults!) using the same custom SNP arrays we use for our Personal Genome Serviceâ„¢. We hope to use data collected for this cohort to validate a wide range of findings that we’ve made using 23andMe customer data. Some of the phenotypes we expect to look at soon include nearsightedness, allergies, handedness, and infectious disease susceptibility.
- We’ve launched a new Sarcoma community that is currently enrolling members. We plan to combine survey information regarding their experiences, environments and responses to different therapies with genetic data to find patterns that will help us better understand the biology of sarcoma.
- We’ve been working on methods to assess the accuracy of our risk prediction models using survey responses from 23andMe customers. We’ll be using these results to refine our existing models and to develop new ones, with the goal of continually improving our understanding of genetics and environmental interactions and how this data is presented to our customers.