Special Report on Human Genomics

Direct-to-Consumer DNA Testing and the Myth of Personalized Medicine: Spit Kits, SNP Chips and Human Genomics

Issue & Impact: “Personalized medicine” is based on the belief that we can – or, one day soon will be able to – detect, prevent and treat disease according to an individual’s genetic profile. “Gene-informed,”[1] individualized medicine is being touted as a boon to health and longevity around the world, though its efficacy and usefulness have yet to be demonstrated. Nevertheless, the DNA testing field is advancing rapidly. The global market for personal gene testing is estimated at $730 million and growing 20% every year, according to market research analysts.[2] An explosion of unregulated direct-to-consumer (DTC) genetic testing is feeding that growth. Today there are more than one thousand different genetic tests available. Marketers of personal gene testing want us to believe that our genes define us and hold the key to our health and wellbeing. In fact, the information gleaned from most genetic tests has very limited use for patients, but it is extremely valuable to companies and researchers trying to establish links between medical conditions and genetic variations, enabling – they hope – the eventual development of drugs targeted to people with specific genetic profiles. In the shorter term, drugs that have been taken off the market due to unexpected adverse reactions in a small percentage of the population could be re-marketed as personalized drugs, intended only for those with the appropriate genetic profile. Through clever (and often misleading) marketing, some companies are persuading consumers to pay for storage of genetic data and health information, which the companies intend to use (e.g., sell) for research and drug development. While DNA testing is currently expensive, risky (e.g., it can result in privacy violations and discrimination) and provides information with extremely limited usefulness, it is being marketed as the next cutting-edge, must-have accessory – the iPod of the medical world.

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