A second worry is how genetic information is delivered to consumers. “The effort is to shift the focus from the physician, who usually focuses on specific problems, to the consumer, who is looking for a more broad-based view,” says Jorge Conde, president of Knome, which is based in Cambridge, MA. “There are a lot of questions around how to do that in a way that is digestible and relevant and responsible for someone not trained in genetics.”
Different companies handle this different ways, some providing information online, others offering genetic counseling. “I think genetic counseling is very important because lots of people make no distinction between single-gene disorders, like cystic fibrosis, and genetic factors that may elevate their risk for, say, heart disease in a modest way,” says Michael Christman, president of the Coriell Institute for Medical Research, a nonprofit research center in Camden, NJ. Common complex diseases, such as heart disease, Alzheimer’s, and type 2 diabetes, are caused by a combination of genetic and environmental factors, making it difficult to predict the impact of a single linked genetic variation in an individual patient. “In the absence of someone very knowledgeable to explain this, there is the potential for gross interpretation of what it really means,” says Christman.
Most direct-to-consumer genetic-testing companies have declined to release sales figures, so despite the public attention, it’s unclear whether their business models are succeeding. But most people seemed unconcerned. “If you look at the first commercial transactions on the Internet, few of the early companies necessarily survived intact, but the ideas they invented became the industry,” says James Heywood, cofounder of PatientsLikeMe, a company based in Cambridge, MA, that collects, shares, and analyzes data on patients with different diseases. “It’s like going back to the invention of the computer: was it the computer that was important, or was it the applications that were invented to use on it? Who knows what application will effectively build this new market?”
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