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Zone in with Zon—Nucleic Acid Chemist Tackles Direct-to-Consumer Genetic Testing

Dr. Gerald Zon’s latest blog post, dated January 6, 2014, and published by TriLink BioTechnologies of San Diego, focuses on the controversial subject of direct-to-consumer (DTC) genetic testing. Dr. Zon shares some personal history, beginning in 2009, of dealing with Navigenics, the first provider of direct-to-consumer (DTC) SNP-based genetic testing and medical counseling. He then discusses 23andMe, a company that has been a lightning rod of controversy in the area of DTC genetic testing and received a “bombshell” November 2013 letter from the FDA calling on the company to stop marketing its testing kit until it received proper authorization. D. Zon also noted the FDA’s November issuance of marketing authorization for the first high-throughput (next-generation) genomic sequencer (Illumina’s MiSeqDx), which will allow development and use of innumerable new genome-based tests, as described in a December 19, 2013 New England Journal of Medicine Perspective piece by Francis Collins, M.D., Ph.D., and Margaret Hamburg, M.D. Dr. Zon further mentioned the “upbeat “Consumer Genetics Conference,” held in September 2013 to emphasize the swirl of developments and debate in this key arena. According to Dr. Zon, Navigenics began selling its genetic testing services in 2008 based on SNP analysis to assess risk for a variety of common health conditions. In July 2008, California health regulators sent cease-and-desist letters to Navigenics and 12 other genetic testing firms, including 23andMe. The state regulators asked the companies to prove a physician was involved in the ordering of each test and that state clinical laboratory licensing requirements were being fulfilled. Two months later, Navigenics and 23andMe received state licenses allowing the companies to continue to do business in California. Dr. Zon went on to outline the results of his own genetic test by Navigenics. These results can be seen in the full blog, but suffice it to say, they did provide Dr. Zon with some medical information he considered useful. He also mentions that Navigenics was purchased by Life Technologies in July 2012. He then discusses 23andMe, which was founded in 2006 and began offering services approximately one year later. The company’s stated goal was that of “empowering individuals to access, explore, share, and better understand their genetic information, making use of recent advances in DNA analysis technologies and proprietary web-based software tools.” The company partnered with Illumina to leverage that company’s SNP genotyping platform in 23andMe’s genetic analysis. Dr. Zon then highlighted a December 3, 2013 Nature editorial focused on the implications of the FDA’s bombshell cease-and-desist letter to 23andMe and quoted some key statements with which he agreed. These included, “The company has walked a fine line between promising that this activity will revolutionize medicine and averring that it is not actually medical at all, in an attempt to simultaneously lure in customers and avoid the need to conform to medical regulations.” and “ But the big question is not whether regulators will stop people from understanding their own DNA—they cannot. The question is whether such understanding has reached the point at which companies can exploit it, and if so, how to protect their customers.” and “In the meantime, it seems short-sighted for companies to rebuff regulators. If it is too onerous to prove the accuracy of the information they offer, they should not be selling this information in the first place.” A November 25, 2013 Nature article describes the FDA’s letter ordering 23andMe to cease selling its DNA tests. Dr. Zon closes by citing a recent article by Imai et al. in Clinical Chemistry entitled “Concordance Study of 3 Direct-to-Consumer Genetic-Testing Services,” and he suggests that the issues raised can be addressed by industry-wide agreement to use the same SNP markers and associated medical databases (i.e., harmonization), and account for ethnicity. Dr. Zon is an eminent nucleic acid chemist and Director of Business Development at TriLink BioTechnologies in San Diego, California. The entirety of Dr. Zon’s latest blog, as well as previous blogs, can be viewed at the link provided here. [Zon blog post] [NEJM Perspective] [Nature editorial] [Nature news story]