Two years ago the BBC ran a story about health and the government whose headline perfectly captured the promise and peril of the scientific breakthroughs in genetics: “NHS must prepare for the genetic revolution, report says.” Describing the developments in genetic testing and research as revolutionary is apt. The illumination of ancestry and the possibility of preparing for and preventing a range of diseases and conditions–cancer among them–could not come soon enough.
But the other part of that headline that was important was the focus of the story: how the government-run health bureaucracy wasn’t ready for the revolution, and the danger such unpreparedness posed. Those glancing across the pond at the BBC’s reporting might have expected what transpired in the U.S. recently, culminating yesterday in a setback for public health, scientific breakthrough, and individual rights, all brought to you by the Food and Drug Administration. The FDA has been standing athwart medical history yelling stop, and for now history has agreed to stop–or at least slow down.
The basic story is this: a biotech startup called 23andMe sells spit kits–saliva collection tubes, essentially–for $99 a piece and runs genetic tests on the samples. The near-term benefits are obvious: users have an affordable way to screen for genetic predispositions. The long-term benefits stem from the (if successful and popular enough) database of genetic health and ancestral information. When Time magazine lauded the product in 2008 (it was more expensive and still finding its place), it noted:
We are at the beginning of a personal-genomics revolution that will transform not only how we take care of ourselves but also what we mean by personal information. In the past, only élite researchers had access to their genetic fingerprints, but now personal genotyping is available to anyone who orders the service online and mails in a spit sample. Not everything about how this information will be used is clear yet — 23andMe has stirred up debate about issues ranging from how meaningful the results are to how to prevent genetic discrimination — but the curtain has been pulled back, and it can never be closed again. And so for pioneering retail genomics, 23andMe’s DNA-testing service is Time’s 2008 Invention of the Year.
But sentences like “the curtain has been pulled back, and it can never be closed again” are read as dares by the federal bureaucrat, drunk with power and disdainful of the liberation of information. Challenge accepted, said the FDA, which set out to close that curtain. The FDA decided the spit kits were medical “devices” under the law and therefore 23andMe was required to jump through all the regulatory hoops associated with that finding. For now, the company will “discontinue consumer access to its health-related genetic tests during the ongoing regulatory review process.”
Now, in the FDA’s defense, that’s certainly a plausible categorization under the letter of the law. Additionally, 23andMe was far from cooperative–indeed, the company seemed positively dismissive of the FDA’s authority. That may be warranted, but it’s also not a great business strategy.
But even if you accept the spit tube’s categorization of a medical device, there are two major problems with that. The first is outlined by Ezra Klein, in an excellent column that harkens back to the point about the BBC’s two-year-old warning to the NHS:
“The legal question is pretty simple,” said Daniel Carpenter, author of “Reputation and Power: Organizational Image and Pharmaceutical Regulation at the FDA.” The definition of a device under the Federal Food, Drug and Cosmetics Act, Carpenter said, “is anything intended for the use or diagnosis of a disease or other conditions.”
But the FFDC was passed in 1938. The section on medical devices was updated in 1976. The personal genetic test — and the theory of personal medicine behind it — didn’t exist when the regulations were written.
The point Klein makes is that the regulatory infrastructure clearly needs rethinking to adapt to new realities. Adaptation and logic, however, are not the bureaucracy’s strong suits. The other problem with the FDA’s approach is that the agency seems to be using the medical device rule as a technicality on which to address its real concerns. Here’s the FDA’s explanation:
Some of the uses for which PGS is intended are particularly concerning, such as assessments for BRCA-related genetic risk and drug responses (e.g., warfarin sensitivity, clopidogrel response, and 5-fluorouracil toxicity) because of the potential health consequences that could result from false positive or false negative assessments for high-risk indications such as these. For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist. Assessments for drug responses carry the risks that patients relying on such tests may begin to self-manage their treatments through dose changes or even abandon certain therapies depending on the outcome of the assessment.
In other words, a customer will self-treat or self-medicate. But is that so realistic? Do potential breast cancer patients perform their own surgeries? Would they just snap their fingers and instantly be on chemotherapy? The reality is that they would consult with a doctor, perhaps several, on the road to such treatment, which if initiated would be recommended and supervised by medically-trained experts and professionals.
And as Reason’s Ronald Bailey points out, “Researchers around the world use the same biochip, the Illumina OmniExpress Plus, that 23andMe uses and find that it provides highly accurate results” and that the FDA approves tests with less-than-stellar accuracy rates.
Further, there is the thorny issue of the government overregulating your ability to access information about yourself. Is it the government’s place to put such information under (expensive) lock and key? And what about the research this puts on ice, to say nothing of the warning signal this sends to other would-be health startups? Nanny-staters usually defend their trespassing by casting themselves as defenders of public health. In this case, they are the obstacles.