June 25, 2011

Direct to Consumer Genetic Test Study Advances Parkinson's Research

23andMe is one of the leading providers of personalized genetic testing, and has announced the results of their study in which Parkinson's disease patients were recruited to provide DNA samples for what is called a genome wide association study (GWAS), in which the genome is assayed to reveal its individual profile of genetic variations. The company enrolled 3426 self-identified Parkinson's patients online, who then sent in saliva samples for DNA testing.  The company compared the GWAS results to non-Parkinson's controls, and have now published their study in PLoS Genetics, two new sites of genetic variation in the human genome that are linked to Parkinson's. The research was conducted in collaboration with several Parkinson's disease advocacy organizations, including the Michael J. Fox Foundation. What notable is the online management of the disease cohort by 23andMe; this is not the simple submission of DNA samples by an underinformed consumer who then can receive personalized genetic analysis that may lack firm scientific support (note the critiques of DTC testing from the Secretary's Committee on Genetics, Health and Society last year).  Rather, this is an attempt to start with the phenotype of the disease diagnosis and work backward to find deeper genetic foundations of the disease. Nonetheless, as GWAS studies proliferate, there are legal issues of confidentiality, privacy, and data ownership that ensue from this work; here is  a comprehensive (ELSI - ethics, law, social) analysis prepared for the Wellcome Trust by Dr. Jane Kaye and colleagues at the University of Oxford (UK).  This effort from 23andMe now overlays the DTC component as well.

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