By Paul Hsieh
At FuturePundit, Randall Parker described how "Crowd Sourcing Identifies 2 Parkinsons Disease Genes".
Here's an extended excerpt from his post:
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.(Read the rest of Parker's post: "Crowd Sourcing Identifies 2 Parkinsons Disease Genes".)
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.You can read the whole open access Plos Genetics research report at that link.
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.
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.
Here's the full PLOS Genetics paper: "Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease".
I completely agree with Parker. Proposed FDA controls over the growing consumer genetic testing market not only deprive individuals of the right to learn the content of their DNA, but could also stifle the growth of new discoveries (and downstream therapies) made possible only by this sort of innovative free-market "crowdsourcing".
The FDA has no business stopping people from voluntarily sharing their genetic information with others in hopes that they might reap life-saving benefits.
(See also my July 2010 PajamasMedia piece, "Should You Be Allowed To Know What's In Your DNA?")