As one of the first privately held companies to offer direct-to-consumer genome tests, 23andMe has received both praise and criticism for their Saliva Collection Kit and Personal Genome Service (PGS) that was launched in 2007 to estimate predisposition for over 90 traits. While 23andMe has stated that they were in discussions with the FDA as far back as 2008,3 in November 2013 the Agency sent 23andMe a warning letter stating that the Kit and PGS were considered to be medical devices “intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, or is intended to affect the structure or function of the body.”4 At the time 23andMe offered health reports on 254 diseases and conditions linked to genetic variations, including BRCA-related genetic risk and drug responses; the FDA expressed concern in the warning letter that this information could lead to unnecessary procedures due to false-positive results and patient self-management of treatment via drug dose changes or discontinuing therapies without medical consultation. 23andMe halted marketing of the PGS,3 but it did receive FDA approval in February 2015 for the first direct-to-consumer genetic carrier test for Bloom syndrome and continued to offer ancestry and raw genetic data to consumers.5 Finally, in October 2015 the company was approved for a new PGS including carrier status reports.6

Similarly, startup company Theranos has recently been scrutinized by both the media and the FDA over their direct-to-consumer laboratory testing services. Launched in 2003 while founder Elizabeth Holmes was a student at Stanford University, the company began to offer blood tests in 2013 for over 240 biomarkers using the company’s proprietary Capillary Tube Nanotainer (CTN) and testing machines that required significantly less blood than traditional laboratory testing. Theranos opened 42 blood-drawing “wellness centers” (most in Walgreens pharmacies) in three states and was valued at $9 billion7. However, the company had published no peer-reviewed research on the efficacy of its product compared to traditional laboratory testing; the company stated that this information was considered to be trade secrets. In July 2015 the company received FDA clearance for its Theranos test and technology for the herpes simplex 1 virus IgG (HSV-1) outside of traditional laboratory settings, but was not approved for other diagnoses or biomarkers8. However, because Theranos does not sell its proprietary technology and testing machines to other labs, it did not need FDA approval prior to marketing. Following a critique in the Wall Street Journal of the efficacy of the product in October 2015,7 the FDA declared that the Capillary Tube Nanotainer (CTN) was a Class I medical device and that complaints regarding possible device failure and quality assurance had not been adequately addressed.9 The company was permitted to continue to use the CTN for the FDA-cleared herpes test, and has stated that it has been working with the FDA throughout the product development to adhere to regulatory rules and restrictions.10

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