Genes R US — The citizen scientist and web-based research

Posted: Wednesday, March 14, 2012 5:00 pm

Personal genetics companies, like 23andMe, are making it possible to gain insight into complex diseases in record time with significantly less cost by using the data of their citizen scientist-customers.
Exhibit 1:  Last summer scientists, from the Parkinson’s Institute and 23andme, published their first results from a research study based entirely on web-based methods of participant enrollment and data collection. Several novel DNA variants (SNPs) were linked to Parkinson’s disease (PD).  PD is a chronic, progressive neurological disorder, outwardly characterized by trembling, due to a shortage of dopamine in the brain.
Individuals with PD were recruited through a targeted email campaign. Recruited PD study participants filled out a web-based survey and provided saliva samples for DNA analysis according to the standard 23andme protocol. You can watch a short video clip on this project, featuring Muhammad Ali (a PD patient): www.youtube.com/watch? v=XR7pBLAGLgM.
Once a third of the 10,000 PD targeted cases had been recruited last summer, new and important genetic results began emerging. The number of study participant has now grown to two-thirds of the goal of 10,000. Recruiting is on-going.
If you know someone with PD, consider getting them on enrolled in this study. They must have (1) a PD diagnosis by a physician (2) access to the Internet and (3) be willing to complete an online health survey. In return, they receive a free lifetime membership in 23andme-which includes health-based and ancestry information.
People like me, who are 23andme customers and do not have PD, were part of the 29,000 controls for the study. Without us, there would have been no breakthroughs! We completed online surveys and allowed our genomic data to be used in this study. This kept the cost of the study down by at least a factor of two, and probably considerably more.  
To achieve the statistical power needed in the genetic research of complex diseases, like PD, one needs large numbers of participants. I applaud the out-of-the-box thinkers, from the Michael J. Fox Foundation and the 23andme team, for their willingness to participate in this unique approach to research-a truly new paradigm building on the momentum and enthusiasm of the citizen scientist.
PD is not a rare disease. Many rare diseases do not have any effective treatments. And poor funding makes it hard to do research. However, web-based study enrollment and data collection may have even more potential in unraveling the mystery of rare diseases. 
Exhibit 2:  23andme is now recruiting for a study of rare blood marrow diseases caused by myeloproliferative neoplasm (MPN). MPN-diseases have several different phenotypes (i.e., ways of showing up in people). Scientists already know that some MPN-disease is associated with a mutation in a specific gene, JAK2 V617F. For those who develop MPN-disease, half have this specific mutation.  
One of my sons has the JAK2 V617F mutation, which increases his risk of developing a MPN-related disease by a factor of two compared to someone without the mutation. Although this does not mean he will necessarily develop a MPN-related disease, it is valuable information for him.
I have gifted a number of people with a personal genetic-testing kit. They all look at their results – at least initially — although it is not clear that they follow the monthly updates. But few of them (zero to my knowledge) have completely filled out the online surveys that make their data useful and available for studies like the PD or MPN research projects. 
Medications and therapies for diseases are developed after an understanding of their genetic underpinnings and biological pathways. Most people just don’t know that they can make such a huge impact on genetic research.
We all can make a difference. History is replete with individuals that made a difference. Do you know that you can make a difference in genetic research? Do you know that God genetically engineered you in a unique way to contribute to the scientific understanding of and treatment of disease? Consider letting your DNA be part of the new paradigm in genetic research.
Editor’s note: Nancy@ NancyMillerLatimer.com has worked in scientific research and development for 27 years. She blogs at NeuronalBeauty.BlogSpot.com Published in The Messenger 3.14.12