Protecting Consumers From Their Own Genetic Data Will Come at a Cost

7/28/10

Last week’s U.S. House Energy and Commerce Committee hearing into the direct-to-consumer (DTC) genetic testing industry was a vicious affair, with more than a whiff of the show trial about it. Representatives from testing companies 23andMe, Navigenics and Pathway Genomics faced a barrage of questions about the accuracy and utility of their tests, made all the worse by the fact that most of the Committee’s members seemed unable to distinguish between the more responsible companies in the field and the scammers and bottom-feeders. (Lawyer Dan Vorhaus has a thorough summary of the hearing here.)

And the news for direct-to-consumer companies just kept getting grimmer: the star attraction of the hearing was a new report from a sting operation by the US Government Accountability Office, which detailed the results of anonymous purchases of kits from four DTC testing companies as well as assessments of marketing from 11 other companies approached by the GAO “both by phone and in person” without purchasing kits. While all the companies are listed as anonymous numbers in the report, the first four were revealed in the hearing as the four most prominent personal genomics companies: 23andMe, deCODEme, Pathway Genomics, and Navigenics. The remaining 11, which appear to mostly occupy a far less reputable corner of the industry, currently remain nameless.

The report details a litany of complaints—ranging from the flimsy to the serious—about the marketing, reporting and scientific basis for the companies’ operations. More damagingly, it also includes covertly taped conversations between GAO employees and several DTC companies, now published by the GAO on YouTube. In the tapes, a representative from one company (apparently Navigenics) offers terrible advice to a customer about the implications of breast cancer risk predictions, and a call center operator from another company (apparently Pathway Genomics) enthusiastically promotes non-consensual DNA testing for a customer’s fiance. The remaining companies on the tape, who offer a variety of scientifically bizarre claims to the undercover GAO operatives, aren’t members of the first four (reputable) testing companies, but rather of the still-anonymous 11.

There’s no denying it: the tapes are pure gold for the critics of the DTC testing industry. In the first and third clips, a couple of poorly-trained call center operators at otherwise reputable companies nonchalantly produce stakes that will now be driven into the heart of the DTC genetics industry, over and over again. The remaining three clips appear to depict scam operations—nothing like the products offered by 23andMe, deCODEme, Pathway or Navigenics—that will nonetheless be effectively conflated in the public mind with DTC genetic testing as a whole.

A one-sided attack

The report itself includes some nonsensical complaints. For instance, the fact that “one donor who had a pacemaker implanted 13 years ago to treat an irregular heartbeat was told that he was at decreased risk for developing such a condition.” The tests are clearly labelled as providing a probabilistic risk prediction, not a diagnosis. The GAO criticism is like claiming that the link between smoking and lung cancer is spurious because one individual with lung cancer never smoked.

Others criticisms are more justified. For instance, the differences in the risk predictions offered by different companies to the same individual is a problem that has been raised periodically since the industry’s inception. There’s a clear need for industry-wide standards for marker inclusion and background risk figures. This isn’t disputed by the companies themselves, who in fact have been pleading for the FDA and the NIH to provide official guidelines in these areas; nonetheless, the companies deserve a substantial share of the blame for not resolving these issues earlier.

But overall, the document is obscenely one-sided. It conflates responsible companies offering scientifically valid products with small-time con artists. It ignores the remarkable effort that has been expended on creating intuitive interfaces that allow consumers to grasp complex risk predictions far more easily than anything you’ve seen in a general practitioner’s practice. It ignores the remarkable technical accuracy of the companies’ products, which measure hundreds of thousands of genetic markers with an accuracy orders of magnitude higher than many tests used routinely in a clinical setting. It also ignores the benefits to consumers of engaging with their own genome, a powerful education in the complexities and uncertainties of modern genetics.

Many commenters on the personal genomics industry immediately declared the report to be flawed and biased, and a spirited defense was soon posted on the blog of one of the targeted companies, 23andMe. Nonetheless, the GAO has hit its mark. Already its central claims have been echoed by news agencies around the world. With each of those echoes, public confidence in the industry will fall, and regulators will gain support for further attacks.

The costs of regulation

It would be all too easy to use the false claims and unethical behavior depicted in the tapes to justify a whole-sale FDA crackdown on the direct-to-consumer genetic testing industry, and that was certainly the flavor of the Congressional proceedings. However, such a move would be short-sighted, and would ultimately harm consumers more than it protected them.

Regulation comes at a cost. Each additional barrier thrown in the path of companies means increased costs to consumers, reduced competition (as entrepreneurs move into less burdensome fields), increased lag times between new discoveries and finished products, and ultimately weaker innovation. In some cases these costs are justified, which is why we tolerate a massive regulatory burden on pharmaceutical companies despite the resulting higher price of drugs. However, we must insist that each new regulatory obstacle be justified by the protection it provides to consumers.

Reputable DTC companies are already bound by regulation: their testing laboratories must be certified under Clinical Laboratory Improvement Amendments (CLIA) standards, which govern the technical accuracy of results. The false claims and unethical marketing highlighted in the GAO report would also seem to fall under the mandate of the Federal Trade Commission (FTC), who have already made some moves towards educating consumers about DTC genetic tests. It would seem appropriate to consider whether strengthening these existing mechanisms would serve consumers better than introducing FDA regulation.

Excessive regulation would devastate the industry, and that would harm more than just the companies involved. For all its faults, the DTC industry is currently an engine of innovation for technologies that will be crucial to the coming era of genomic medicine, such as intuitive interfaces for exploring large-scale genetic data. Close the industry down and those innovations will also disappear, with much broader negative consequences than the FDA or Congress appears to realize.

A way forward

There are alternatives to the paternalistic approach of locking tests away from consumers unless they’re deemed to exceed some FDA-defined threshold: for instance, empowering consumers to make their own informed decisions about genetic testing products. Coupled with strengthening of the existing CLIA regulations and a boosted FTC mandate to purge the industry of scammers, such an approach would help to protect genetic test customers without destroying the innovative DTC industry.

As Dan Vorhaus and I have previously argued here on Xconomy, the key to this approach will be increasing the transparency of the industry. As a starting point, creating a mandatory database of genetic testing products containing information about the scientific basis of companies’ claims—preferably by building on the NIH’s proposed Genetic Testing Registry—would provide a platform for consumers to make an informed comparison of reputable tests. It would also provide an even playing field for public critiques of the markers and algorithms used by each company, spurring the industry as a whole towards improving their products.

Crucially, this database would need to be accompanied by education of both consumers and clinicians about the value and limitations of existing genetic tests. These are complex issues, and challenging to convey to consumers without a PhD in statistical genetics. But as we move into an era where whole genome sequences move from luxury goods to cheap commodities, they are issues we must learn how to communicate—and soon.

Daniel MacArthur is a researcher at the Wellcome Trust Sanger Institute in Cambridge, UK, and blogs at Genetic Future (http://scienceblogs.com/geneticfuture/) and Genomes Unzipped (http://www.genomesunzipped.org/). Follow @

By posting a comment, you agree to our terms and conditions.