Life Technologies Corp. has unveiled a device designed to sequence an entire genome in one day for $1,000.
The $1,000 benchmark is an important one. Personalized medicine has the ability to guide prevention and illness treatment, and allow drug companies to develop more targeted pharmacological therapies.
The good news is that the price is dropping so fast that the direct-to-consumer market may well blow away. That is good news because those “kits” do not tell you much.
Legitimate genetic testing often is lumped with over-the-counter drugstore tests.
Medical-device manufacturers sell test kits to hospitals, clinics and laboratories. The Food and Drug Administration regulates these products, whose results are interpreted by trained health-care providers. Laboratories also develop their own genetic tests, which are overseen by the Centers for Medicare and Medicaid Services.
By contrast, Walgreens postponed selling the Pathway Genomics genetic test in May 2010 after the FDA challenged its legality. The government appears to be deciding whether the retail products are medical devices, which would require regulation, or simply consumer information.
Direct-to-consumer (DTC) genetic tests are about probability, not certainty. Environment, behavior and luck conspire to determine whether genes will express themselves. In other words, someone who eats right and exercises may well offset a genetic propensity to gain weight.
At its best, in-home genetic testing empowers patients to manage their health and assess personal risks. However, DTC testing is predictive, not diagnostic. It attempts to assess susceptibility to, and probability of, disease – not its presence. The worst-case scenario: Consumers can easily conclude that a disease mentioned in the DTC profile will occur in the future – regardless of its statistical probability.
A Government Accountability Office (GAO) investigation of four companies found misleading test results and “egregious examples of deceptive marketing.” Federal officials sent real donors’ samples to four companies and posed as fictitious customers to inquire about results. According to the GAO, the companies produced different results for identical samples and told customers they had low risks for diseases they already had.
A 2006 report argued that “the potential harms (of DTC genetic tests) outweigh the potential benefits.” A Federal Trade Commission “facts for consumers” bulletin cautions that “having a particular gene doesn’t necessarily mean that a disease will develop; not having a particular gene doesn’t necessarily mean the disease will not.”
Australian journalist Ray Moynihan was far blunter in an article titled: “Beware the fortune tellers peddling genetic tests.”
He said, “For anyone concerned about the creeping medicalisation of life, the marketplace for genetic testing is one of the last frontiers, where apparently harmless technology can help mutate healthy people into fearful patients, their personhood redefined by multiple genetic predispositions for disease and early death.”