A sad day for personal genomics

(Cross-posted to Genomes Unzipped.)

Today's US Congress Committee on Energy and Commerce hearing into the direct-to-consumer genetic testing industry was a vicious affair. Representatives from testing companies 23andMe, Navigenics and Pathway faced a barrage of questions about the accuracy and utility of their tests, made all the worse by the fact that many of the Committee's members seemed unable to distinguish between the more responsible companies in the field and the scammers and bottom-feeders. (I watched by web-cast, which I can't yet track down a copy of online; you can read the written testimony of the speakers here.)

And the news for direct-to-consumer companies just keeps getting grimmer: the star attraction of the hearing today was a new report from a sting operation by the US Government Accountability Office (PDF), which details 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 the companies are listed as anonymous numbers in the report, they were revealed in the hearing as (1) 23andMe, (2) deCODEme, (3) Pathway Genomics and (4) Navigenics (the remaining 11 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.

Following hot on the heels of the two-day FDA meeting on lab-developed tests (see summaries from Dan Vorhaus here and here) and the recent warning letters sent to 14 more genetic test providers, this is a stunning blow to the nascent personal genomics industry.

But wait, there's more

And it gets much, much worse: the report includes covertly taped conversations between GAO employees and several DTC companies, which I've embedded below. In this video, the company offering breast cancer advice is apparently Navigenics, and the company enthusiastically promoting non-consensual DNA testing for a customer's fiance is Pathway Genomics. It seems safe to assume that the remaining companies on the tape aren't members of the first four (reputable) testing companies, but rather of the still-anonymous 11.

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So I'll ask again. How should DTC testing be regulated, if at all? You agree that even the big guys have some problems that need correction, as evidenced by some of those recorded clips, right?

What's the best way to weed out the scammers and make sure the remaining companies act responsibly, especially when it comes to health related testing?

Apologies if you've addressed this question before. If so, I'd appreciate a link. Thanks!

Hi qetzal,

Dan Vorhaus and I have some suggestions here.

A mandatory database of genetic tests to support informed decisions by consumers, continued refinement of CLIA to ensure analytic validity, and active enforcement against companies that make false claims via the FTC.

A mandatory database of genetic tests to support informed decisions by consumers, continued refinement of CLIA to ensure analytic validity, and active enforcement against companies that make false claims via the FTC.

So in this model, would tests that yield information relevant to medical diagnoses be required to get CLIA certification before being marketed?

So in this model, would tests that yield information relevant to medical diagnoses be required to get CLIA certification before being marketed?

Yes. That's already true for all of the major personal genomics companies.

Yes. That's already true for all of the major personal genomics companies.

CLIA approval of the lab doing the testing, yes. and I'd guess that would include many tests for analytical validity (the 99.9% you brought up in your post).
But for it to be useful to the consumer, what's needed is CLIA certification of the clinical utility and validity of each test offered. I.e., not just verification that "you have this pattern of alleles/SNPs", but verification that "this pattern of alleles is highly associated with this condition", etc.
Otherwise the database could end up being pretty misleading to consumers.

Daniel and Dan,
The registry and database does nothing to prevent poor medical advice like that given over the phone. I think it Navi's case it might have been one of their genetic counselors too. Which would be a huge travesty....

Medical testing IS Medical Testing. BRCA, PGx these are REAL things. Why won't you guys admit that and move on here?

Because they are medical tests, they should be regulated so. And those doing the interpretation of medical tests are practicing medicine and should be regulated so.

Please tell me how identifying a BRCA carrier is not a medical test? Even if you do, I ask you to ask a physician you trust whether or not your argument is worthy.

This day was coming the moment they put BRCA on their Chip...And then jumped into PGx.

Not a sad day. A day created by and for DTCG because of their flagrant unwillingness to work with physicians in favor of "Fun and Revolution"

The public still (barely) trusts physicians. I don't think they will ever trust DTCG again.



Thanks for the response, but I agree with hibob. I don't see how a mandatory registry addresses the key issue of whether a given test is clinically valid. Are you content to leave that up to a company's discretion? Would you accept the same approach for pharmaceuticals?

I'm far from convinced that's an adequate approach. At the same time, I don't think a person should be required to go to an MD to have genetic testing done. I'm just not sure what the happy medium is here.

Perhaps testing BRCA does constitute "medical diagnosis". Perhaps it is fair and in the public interest for the FDA to impose regulations so that genetic tests for the BRCA gene are Physician ordered only. But please let us still have unrestricted access to the half a million other SNP's that are tested by companies such as 23andme and don't constitute "medical diagnosis".

By Angela Cone (not verified) on 22 Jul 2010 #permalink

I watched the live webcast yesterday and was frankly appalled at the biased way in which the "evidence" found by the US Government Accountability Office was presented. I would hope that the GAO will in due course release the full recordings and transcripts of all their telephone conversations. (I would hope that there is a US equivalent of the UK Freedom of Information Act and it will be possible to request this information.) It would appear that the two DTC companies in the video are Navigenics and Pathway Genomics. Both these companies now require consumers to order their tests through a doctor and/or with advice from a genetics counsellor. The GAO were seemingly unable to find any evidence that 23andMe and deCODEme, the two companies who do sell their tests direct to consumers, were misinforming their customers over the telephone. 23andMe, Navigenics and Pathway were all asked to testify at the hearing. They were not given the chance to review the GAO evidence beforehand but were asked to comment on these findings on the spot. In the hearing Ashley Gould the counsel for 23andMe revealed that the company actually approached the FDA for advice three years ago before they even launched the company. If the FDA were so concerned about the 23andMe test why did they not work with 23andMe at the time rather than hounding them in such a public way now? Misleading marketing and advertising can be a problem with all companies. In the UK we have an Advertising Standards Authority and an Office of Fair Trading which oversee such issues. Is there no such equivalent in the US? There are indeed fraudulent companies which need regulating and investigating. I find it incomprehensible that the Congressmen and the FDA are focusing all their attentions on the responsible companies like 23andMe while seemingly ignoring the fraudulent scam companies such as the supplement companies in the video. Why were representatives of these other companies not called to give evidence? Genetic tests are predictive not diagnostic. The average consumer is only going to test with one company and simply could not afford to test with multiple companies so the different reporting methods are unlikely to be such a big issue. A patient could just as easily consult a number of different doctors and be given different diagnoses and prescribed different drugs. A predisposition to breast cancer could easily be uncovered by researching your family history. Perhaps the FDA should also be regulating family history research!

Why isn't anyone worried about all the MD's and their disinformation or ignorance or the greed powering their decisions? The entire government has a white coat syndrome: MD's exempt from stupid.

If they only knew.

Murphy is worried about his profession's rep. He should be. They Rx snake oil and call it health care. They learn from drug reps and call it education. Recent conversation with a Stanford cardiologist is telling: he wants to buy a house here in Palo Alto so he will do what procedures bring him the biggest bucks to get there the quickest.

Put a wire on me. I'll prove the danger is in the medical profession a lot more profoundly and a lot more dangerously than 23andme.

"Women are cash cows. Without them, I'd have nothing. They seek more unnecessary medical care than anyone else." Another precious MD no one will touch. Who is going to go after the real whores of the profession? And let people have their own damn data if they want it? Who watches the watchers?

ad hominem attacks only work when you have real evidence, which then makes them no longer ad hominem fallacy. Do some work like the GAO to flay doctors.

Next time....

AMA wins again!
Freedom loses.

Labcorp 0wNz the guvermint!