June 25, 2011
Crowd Sourcing Identifies 2 Parkinsons Disease Genes

The folks at personal genetic testing company 23andme.com recruited Parkinson's Disease (PD) patients from mailing lists and other means and compared their genetic variants with a group of 23andme customers who also got their genetic variants tested by 23andme. They used the resulting data to discover 2 more genetic variants associated with Parkinson's Disease. The results demonstrate the speed, low cost, and power of web-based recruiting to do genetic research outside the traditional academic framework.

We conducted a large genome-wide association study (GWAS) of Parkinson's disease (PD) with over 3,400 cases and 29,000 controls (the largest single PD GWAS cohort to date). We report two novel genetic associations and replicate a total of twenty previously described associations, showing that there are now many solid genetic factors underlying PD. We also estimate that genetic factors explain at least one-fourth of the variation in PD liability, of which currently discovered factors only explain a small fraction (6%7%). Together, these results expand the set of genetic factors discovered to date and imply that many more associations remain to be found. Unlike traditional studies, participation in this study took place completely online, using a collection of cases recruited primarily via PD mailing lists and controls derived from the customer base of the personal genetics company 23andMe. Our study thus illustrates the ability of web-based methods for enrollment and data collection to yield new scientific insights into the etiology of disease, and it demonstrates the power and reliability of self-reported data for studying the genetics of Parkinson's disease.

You can read the whole open access Plos Genetics research report at that link.

What's cool about this: Using a web site and cheap genetic testing services people can volunteer themselves as research subjects on a scale that historically has taken far more effort to organize. This approach can scale into the hundreds of thousands, and even hundreds of millions of people. There's a big network effect where the more people who get tested the more useful genetic testing becomes.

Direct-To-Consumer (DTC) genetic testing is what made the study above possible. Whether we will be able to continue to get our DNA tested without paying for a doctor's visit and additional testing mark-ups remains to be seen. In the United States the Food and Drug Administration (FDA) is taking a dim view of DTC genetic testing. See here, here, here, here, and here for more.

I see DTC genetic testing as the tip of a much bigger iceberg: The flow of huge amounts of biomedical data from all manner of test devices at home, in drug stores, in portable units people will carry, and from sensors embedded in the body. A business-as-usual regulatory environment where it is difficult to do medical testing outside of traditional locations such as hospitals and clinics will prevent the flood of testing data and greatly slow the rate of progress of biomedical science. DTC testing services and personal testing devices hold the potential to revolutionize biomedical research with crowd sourcing and also to revolutionize diagnosis and monitoring of health. In the universe of Arrakis it was said "the spice must flow". Our modern equivalent is "the data must flow". Think about it.

Share |      Randall Parker, 2011 June 25 09:31 PM  Policy Medical


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