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Confusion as FDA Classify Genome Interpretation as Medical Test

Published: Monday, November 28, 2011
Last Updated: Monday, November 28, 2011
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FDA conclude deciphering your genome should therefore be subject to approval by the appropriate regulatory bodies

Right now, for about the same price as a conventional medical test that reveals just a handful of genes, you could learn the entire contents of your genome. Sure, it’s a "research" scan, which means it will contain mistakes, and your insurance won’t cover the $4,000-$5,000 bill. But it won't be more than a few years before a complete and virtually error-free version of your genome will be within financial reach. Wouldn’t you like to unlock your complete instruction set, with all the medical and ancestry data it contains?

Enticing as that may be, it won’t be easy to get those keys if the FDA has its way. Last summer, the agency indicated that it wants to classify the work of any company that helps you decipher your genome as a medical test that must be regulated accordingly. But over the last year, the agency’s lack of continued communication has left companies that would interpret genetic information—which are simply offering information—confused as to where they stand. This lack of clarity and direction could ultimately mean ceding leadership in this field to overseas competitors who are not similarly constrained.

The FDA has indicated through its public statements that it will put regulatory barriers in the path of companies that want to help us interpret genomes. In June 2010 the agency sent a series of letters to providers like 23andMe, warning them that they were selling what amounted to medical tests that were not vetted by the FDA, and so were in violation of the law. The FDA’s letter to consumer genetics testing company 23andMe is a good example of the tack the agency is now taking. “23andMe has never submitted information on the analytical or clinical validity of its tests to FDA for clearance or approval. ... Consumers may make medical decisions in reliance on this [genetic] information [provided by 23andMe].”

Since then, the FDA has continued to send out letters of a similar tone—23 in total, all to different companies—but has offered no other guidance to providers of direct-to-consumer genetic tests, leaving these companies, and their investors, in the dark about the ultimate direction of regulation in this area. Frustrated by the delay, in recent months many of these companies have made their responses to the FDA public on their websites, in part to protest the climate of ongoing regulatory uncertainty that the agency’s actions have created. Others have pre-emptively eliminated medically significant interpretations from their tests, even if the genes they return still contain that information.

Rather than protect consumers, the FDA’s move has left the genetic information industry in limbo—and it seems a matter of time before it moves overseas. Can’t get your full genome scan interpreted by software hosted on servers in the United States, owned by a U.S. company? Within a decade, a company in a country not subject to our laws will almost certainly be happy to accommodate you. That’s if you don’t take the do-it-yourself route first, plumbing your genome with free and open-source software linked to Wikipedia-style databases maintained by volunteers (which, because they aren’t sold, aren’t subject to FDA regulation).

It’s difficult, if not impossible, to find legal or medical scholars in the United States who are against patient access to full genome sequences. So where does the FDA’s reticence come from? In part, it’s the long shadow of “genetic exceptionalism”—the idea that “genetic information is inherently unique and should be treated differently in law than other forms of personal or medical information,” as Alan Dow, vice president and legal counsel at Complete Genomics, put it.

Other Western governments, too, have fallen into the genetic exceptionalism trap. In 1997, the European Union’s member states even signed a treaty, the Convention on Human Rights and Biomedicine, which mandates that all signatories apply the precautionary principle when handling biomedical advances like genetic sequencing. This means it’s incumbent upon the advocates of these technologies to prove they won’t do any harm. So, for example, Germany has instituted a law so broad that it basically prevents anyone from getting her own genes sequenced without a doctor’s permission. If the genome-interpreting industry is forced by regulatory limbo to seek shelter outside the United States, we may see developing countries like India compete to fill the market gap.

Based on how we've (mis)used other medical technologies, it’s understandable that governmental bodies are at least a little concerned about the advent of whole-genome sequencing. For example, full-body MRI scans have fed into hypochondria-type fears by flagging benign abnormalities that then have to be further examined. Wouldn't a full-genome scan, with the many disease-contributing genes it turns up, do the same? And won't patients who discover, for example, an elevated chance of an incurable disease have their quality of life adversely affected? We'll get to the details later, but the short answer is no.

Genetic data have to be interpreted in a way that the public might not be accustomed to. But it is elitism of the highest order to imagine that most of us are simpletons who can’t grasp the concept that a gene might contribute to a disease condition, but in no way guarantees it. The fear is that every new study associating a gene with a particular disorder will send patients running to their doctors to ask whether they should be worried. But that seems to be a short-term concern: Most patients will understand the reality after their first (or maybe second) panicked trip to the doctor. The physician will tell them that these studies are always preliminary and that even if they’re borne out by subsequent research, the vast majority of these genes have only a marginal effect on our health.

Studies suggest that even patients who find out they have an elevated risk for a disease with a strong genetic component but no cure—like Alzheimer’s—handle the news quite well. In light of this, it seems like the worst-case scenario for a full genome scan is that a patient might be inspired to actually talk to their doctor about their health. If having genes that suggest an elevated chance of heart disease inspire someone to at least be conscientious about their other risk factors for the disease, great! Preliminary research suggests that results of genetic tests change consumers’ intention to do something about their health, if not their actual behavior. (Consumers’ options about what to do with this information often comes down to common lifestyle changes like diet and exercise, which are difficult to get patients to implement under any circumstances).

The only thing worse than the paternalism keeping genetic data and its implications from consumers is the failure of imagination this represents, in terms of the potential upside of the coming genomic revolution. The more full-genome scans we have, and the cheaper they become, the more useful information patients will have. Widespread genotyping will help us understand our own ancestry, but perhaps more importantly will lead to a new kind of engagement with our health and biology. For this new technology to transform American health—and to cultivate a new, high-tech, high-promise industry within the United States—the FDA needs to provide clarity and guidance. The alternative is that the FDA becomes something like the recording industry at the dawn of the MP3 age: a body trying to lock down immaterial assets that consumers are going to get their hands on, one way or another.

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