Archive for the 'Law and Regulation' Category

DTC Genetic Testing and the FDA: is there an end in sight to the regulatory uncertainty?

Disclaimer: Genomes Unzipped received 12 free kits from Lumigenix for review purposes, and Dan Vorhaus has provided legal advice to the company. We plan to release a full review of the Lumigenix service in early July.

Last month three direct-to-consumer (DTC) genetic testing companies opened their mailboxes to find a slightly ominous but entirely expected letter from the FDA. The three recipients (LumigenixAmerican International Biotechnology Services and Precision Quality DNA) received substantively equivalent letters, with the FDA warning each company that its genetic testing service “appears to meet the definition of a device as that term is defined in section 201(h) of the Federal Food Drug and Cosmetic Act,” and that the agency would like to meet with company representatives “to discuss whether the service [they] are promoting requires review by FDA and what information [they] would need to submit in order for [their] product to be legally marketed.”

Translated from bureaucratese, that means that the FDA views these services as ones that may need to be formally reviewed by the agency and either approved or cleared before they can be legally sold. The FDA letter asks each company to describe its service and to explain either (1) why it does not require FDA approval or (2) how the company plans to pursue such approval.

This is a strategy that the FDA has pursued with a growing cadre of DTC service providers. These letters (currently 23 and counting1) represent the only public and company-specific actions the agency has taken to date with respect to DTC genetic testing. While many DTC letter recipients are engaged in dialogue with the FDA, those conversations have occurred beyond the public’s view. Until now.

Continue reading ‘DTC Genetic Testing and the FDA: is there an end in sight to the regulatory uncertainty?’

Last chance to submit comments to the FDA about DTC genetics

Today is the last day to submit comments to the FDA about the future of regulation of direct-to-consumer genetic testing, and, by extension, the future of personal genomics. I would strongly urge anyone reading this blog to submit a comment; the FDA needs to hear the full diversity of opinions and facts on this subject to make an informed decision.

Have you or your family taken a DTC genetic test, and can explain your experiences, either positive or negative? Are you a scientist working on human genetics and have thoughts about the scientific merits of the tests? Are you a clinician, and have insights into how individual’s having direct access to their own genetic information will effect your practice? Are you an ethicist, social scientist or public health professional with opinions about the rights of individuals to access their genetic data, or the impacts such access will have on society or public health? Write a hundred words or so and submit them to the FDA.

You can submit comments via this form; remember, today is the last day before comments close. You can see the comments that have already been submitted here.

For more coverage on this round of comments, see posts by Dan, Daniel and Razib. You may also like to reread our consensus statement about the FDA’s recent investigations.

People Have A Right To Access Their Own Genetic Information

This week has seen another FDA meeting seeking guidance on how to regulate direct-to-consumer (DTC) genetic tests in the US. The meeting itself has been covered by GNZ bloggers Daniel at Genetic Future and Dan at Genomics Law Report, and its apparent outcome has sparked furious debate elsewhere. The discussion among the “independent” panel convened at the meeting appeared to converge on the proposal that all health-related genomic tests should be ordered and reported through physicians. However, the outcomes of the meeting in terms of FDA policy remain unclear, and one FDA official has indicated that decisions about the availability of genetic tests will be made on a test-by-test basis.

There is no doubt that the appropriate regulation of personal genomics tests is a complex issue, and there is a diversity of opinion about how best to achieve it within GNZ (as there is throughout the genomics community). However, there are several points we agree on:

  • Individuals have a fundamental right to access information about themselves, including genetic information. While it is important to also consider the accuracy, interpretation, validity and utility of tests, this underlying principle should guide policy.
  • There is currently no evidence that DTC genetic tests pose a danger to consumers. A recent study of over 2,000 participants in DTC testing concluded that “testing did not result in any measurable short-term changes in psychological health”. In the absence of any evidence of harm there is no justification for restricting individual autonomy.
  • DNA does not have magical powers, and does not require special treatment simply by virtue of being DNA. Genetic exceptionalism – the idea that genetics must be treated as special under the law – is an inappropriate basis for policy-making. Tests should be regulated appropriately based on their predictive power, utility and potential for harm, all of which are related concepts.
  • As DNA sequencing becomes cheaper, the line between medical and non-medical testing will continue to blur. Excessive regulation of health-related genetic tests could also unncessarily hinder the ability of people to access their entire genome sequences for other purposes (such as genetic genealogy).
  • Most clinicians do not have the appropriate knowledge to interpret genomic tests, particularly in healthy individuals. This point is almost universally agreed, even by the FDA, and has certainly been the experience of some of the GNZ members upon taking our genetic results to doctors. Physicians in general are therefore a strange choice for ‘guardians of the genome’.
  • Most early adopters of DTC genetic tests are sufficiently well-informed to understand the implications of a genomic test and interpret the results correctly. Putting a general physician between these informed individuals and their own genomes is paternalistic and unnecessary.

While the outcome of the FDA’s deliberations remain uncertain, it is clear that there will be intensive lobbying against any attempt at excessive legislation. In the worst case scenario, the fledgling and innovative personal genomics market could be crushed by the FDA. However, there is still plenty of room for a measured approach that enforces test accuracy, punishes false claims and promotes informed choices by consumers, without reducing the ability of responsible companies to continue to operate and innovate.

We urge others in the genomics community to make their voices heard on these issues. Let the FDA – and, if you’re based in the USA, your political representatives – know that regulation of genetic testing should be based on evidence, not fear, and that any attempt to unreasonably restrict your access to your own genetic information is unacceptable.

Why DTC genetic testing is good for research

I’ve been reading with interest Daniel’s coverage of the recent FDA hearings into DTC genetic testing. In this context, both he and Razib Khan are incensed by a video which seemingly shows an FDA official misleading Congress about the research done by 23andme:

You can think what you want about the value of the research done to date by 23andme [1], but in my mind, there’s one simple reason why the sorts of participant-driven research they’re doing can only be a good thing: all research is driven by curiosity, and the people most curious about a disease or trait are those who have it. While people may think of the academic research community as a machine with endless resources and limitless motivation, it’s not. People work on things they think are interesting; they sometimes follow “trendy” topics, or move into fields with more grant money, or get bored of a given problem and move on. So if the research in the trait you’re most interested in isn’t moving fast enough for you, well, tough luck.

Recall that one of the key players in the discovery of the gene for Huntington’s disease was a foundation started by a man whose wife had the disease (startlingly, the current president of the foundation apparently accused DTC companies of “raping” the human genome during the present FDA hearing). Recall also that James Lupski, curious about the cause of his Charcot-Marie-Tooth disease, simply sequenced his own genome to find it. These are simply well-connected and trained people driven to find a gene involved in a disease. Patient communities that currently exist are also curious and driven, but in many cases are dealing with complex diseases that are amenable to genetics only with large sample sizes and extensive organization; what these communities can now do is outsource, in a sense, their research to 23andme (see, eg., 23andme’s Parkinson’s study). For scientific knowledge, this can only be a good thing.

[1] To date, the novel associations discovered by 23andme are in hair morphology, freckling, photic sneeze reflex, and “asparagus anosmia”. What these things have in common is that they’re biologically interesting, but not particularly medically interesting; it’s pretty much only curiosity that would drive you to map these traits. Medical researchers tend to scoff at this sort of thing; I think it’s actually pretty cool.

Getting Serious About Personal Genomics’ Risks

When we launched Genomes Unzipped three months ago, we promised a focus on the “budding industry of personal genomics.” Recent developments, however, have demonstrated that this emerging field is susceptible to critics who may be more focused on generating controversy than in engaging in a thoughtful discussion about the balance of risks and benefits in personal genomics. The University of California Berkeley’s short-lived proposal to provide a voluntary and educational genetic testing program for its incoming freshman class highlight this concern.

Over at the Genomics Law Report, in Getting Serious About Personal Genomics’ Risks, I review the Berkeley example and argue that we must carefully examine where and why we restrict the ability of individuals to participate in personal genomics. The failure to do so threatens not only the future of personal genomics but the autonomy of the individuals involved.

For more, please see the complete post at the Genomics Law Report.

A missed opportunity: what the GAO report could have told us about DTC genetic testing

The recent United States Government Accountability Office report on direct-to-consumer (DTC) genetic tests was the star attraction of a bruising Congressional hearing into the DTC industry, and sparked widespread headlines about “bogus” results from the genetic testing industry.

The report is prefaced by the statement:

GAO did not conduct a scientific study but instead documented observations that could be made by any consumer.

While it is the GAO’s prerogative to conduct their study as they see fit, we believe that they missed a valuable opportunity to survey the DTC genetic testing industry and systematically evaluate what is and isn’t being done well. In this post, we discuss how the discoveries that the GAO reported were already largely known, and assess the opportunities that the GAO missed to provide genuine insight. What could the data they collected have told us if they had decided to add a little more scientific rigour to their investigation?  

Continue reading ‘A missed opportunity: what the GAO report could have told us about DTC genetic testing’

The past, present and future of DTC genetic testing regulation

(Newsweek reporter Mary Carmichael has a DNA dilemma: should she buy a direct-to-consumer genetic test? To help answer that question, she’s recruited people with expertise in various areas related to personal genomics – and a diverse range of opinions about the industry – to address specific areas of concern. At the end of the week she’ll announce her decision.

This post is a brief version of Dan Vorhaus’ response to one of Mary’s questions: how should these tests be regulated? Check out the Newsweek website for other answers to the question, as well as a fantastic extended interview with two senior FDA officials. The full version of Dan’s response is now up at Genomics Law Report.

For other Unzipped contributions to Mary’s project, see Jeff Barrett’s post about risk predictions on Tuesday, and my post on test reliability and the balance between knowledge and fear yesterday. –DM)

The regulation of DTC genetic testing has been consistently characterized as confusing, incomplete and irregularly applied. Recent events – Pathway and Walgreens, a bevy of ominous FDA letters, a Congressional Hearing and a GAO report criticizing DTC genetic tests – indicate that the tide may finally be turning. Yet a brief historical review discloses that DTC has actually been down this road before. A GAO report decrying the evils of DTC genetic testing and a subsequent Congressional hearing? 2010 and 2006. Threatening regulatory letters to DTC companies? 2010 and 2008. DTC genetic testing has faced down the specter of heightened regulation before, and over the long term I am confident it will continue to do so.

Nevertheless, in the short term it is possible that DTC genetic testing will be subjected to a substantially more restrictive regulatory framework. Will DTC continue unchanged while regulators and companies engage in protracted negotiations? Will oversight weed out the ‘snake oil salesmen’ and permit legitimate companies to flourish? Or will it drive all genetic testing (temporarily) out of the hands of consumers?

I cannot advise you to take the test or not, but I can say that if you want to proceed there is no time like the present, for there is no guarantee that the option will still be on the table tomorrow.

Regulation of personal genomics: what next?

(Dan Vorhaus’ comment on a previous post recaps a number of key issues discussed during Regulation Week here at Genomes Unzipped, so I’ve promoted it to be the final post of the week – and the final post, for the moment, on the regulation of the direct-to-consumer genetic testing industry. These are questions we all – and especially the FDA – need to consider carefully over the next few weeks. Next week we’ll be getting back to the science, at least until the next regulatory scuffle emerges. DM)

1) Wait and Talk. On the topic of “don’t knock it until we see it,” while I think Jeff and Kate’s point is well-taken, I would also suggest that it is incumbent upon the regulated community – which includes companies, investors, customers and even clinicians – to speak up about what does and does not make sense when it comes to a regulatory solution. The FDA’s public conversation was part of that process, but that was (a) not directed specifically at the regulation of DTC testing and (b) should mark the beginning, not the end, of the dialogue. There are still a number of options on the table, and not all of them are equal. Waiting passively for regulators to act may not be the best strategy.

2) Line-Drawing. It’s clear that whatever regulatory system emerges – and this applies to the much broader category of lab-developed tests (LDTs), as well as to DTCs – the issue that Caroline, Misha and so many others have identified is going to be one of, if not the, most difficult to solve: what counts as a medical interpretation worthy of heightened regulatory scrutiny?

Regulating all genomic interpretations is incompatible with providing broad access to genomic information, since only a handful of people can interpret the raw data on their own (and I’m certainly not one of them). But determining where to draw that line, particularly given the interconnectedness of gene-trait associations and the rapid rate of change in the science (both discussed in this comments thread), is going to be fiendishly difficult. The key will be to come up with some standard-setting body that strikes the proper balance between involving stakeholders (this is an issue that should not be determined by the FDA – or any other agency – acting on its own) and minimizing the number of voices so that the body is nimble enough to respond to changes in the science. I’m not sure there are any perfect solutions here.

2a) Useful to Whom? A sub-point here is whether that line-drawing incorporates (i) analytical validity, (ii) clinical validity and/or (iii) clinical utility. I think that there is widespread agreement on (i), a general agreement that (ii) is important, although no clear agreement on how to assess it, and very little agreement about whether (iii) is appropriate. The issue of clinical utility gets at one of the core tensions here: is my genomic information useful when I say it is useful, or only when my doctor (or some standard-setting body) says it is useful?

3) What is special about DTC? When it comes to the regulation of DTC genetic tests – as a subset of all other genetic tests – I think we (and regulators) need to be much clearer than at present in explaining where, exactly, the concern lies. Is it that individuals are being misled by untrustworthy businesses? If so, then the Federal Trade Commission (or possibly the FDA acting in a similar role; the Genomics and Personalized Medicine Act would have the two agencies work together) has a clear role to play. Is it that genetic tests are not appropriately evaluated beyond analytical validity? If so, then it’s not clear that DTC tests should be regulated differently than the broader category of LDTs. Or is that individuals cannot be trusted to appropriately handle certain types of genetic information and interpretations? If so, then it may be that certain types of information simply cannot be presented directly to consumers, although then we return immediately to the line-drawing problem discussed above.

It is insufficient to know that the FDA intends to regulate DTC genetic tests (as they clearly do); what is needed is a clearer explanation as to whether, why and how DTC genetic tests are to be regulated differently from other types of tests.

4) Transparency First. Finally, I can only echo Daniel’s comment that, no matter what, there is a need for greater transparency. By this I think we both mean a more proactive approach to data collection (i.e., what genetic tests are available, how they are marketed, how they are used by individuals and what impact – positive or negative – they have on end users, both with respect to and apart from influencing medical decisions) and greater regulatory openness. Without such transparency it is difficult to see how any government entity can expect to craft a regulatory framework that strikes the proper balance between the protection of the public and the preservation of innovation and long-term growth in the area of genetic testing and personalized medicine.

Is industry best practice in DTC genetics good enough?

(It looks like this has become Regulation Week here on Genomes Unzipped; Daniel’s initial post sparked a ferocious comments thread, and follow-up posts from Caroline, Dan V and Jeff and Kate continue to add fuel to the discussion. We have one more post on regulation to come to round off the week, before next week returning to our regular, more balanced schedule of posts.)

It’s becoming clear that the arguments with regards to direct-to-consumer (DTC) genetics here aren’t really about regulation per se; I doubt anyone wants to see companies be allowed to make any claims they wish without requiring accuracy or consumer protection. So what exactly are we arguing about?

There are a set of arguments that essentially come down to how one trusts the FDA to act rationally and in everyone’s best interests: some people point to recent statements from FDA officials as evidence that they will apply overly strict regulation, or regulation that requires implausible amounts of money and effort to comply with; others point to the American government’s strong tradition of supporting business, and assume that cooler heads will prevail when it actually comes to making policy. These are arguments about the FDA specifically, and the American legal and legislative system in general, that only one of the Genomes Unzipped contributors has a strong background in.

Beyond specific questions about the actions of the FDA, discussions in the comments here and elsewhere appear have brough up two differing viewpoints about what DTC regulation should look like. One viewpoint (e.g. Daniel MacArthur’s) proposes a Trade Standards/consumer protection type regulatory mechanism; ensuring technical accuracy, associations and health claims based on well-supported scientific evidence, and a lack of misleading or confusing claims or presentation. The other suggests that we need to go further, and proposes something more akin to the regulation of medical practice; some combination of proven clinical utility, proven lack of significant clinical harm, direct supervision by a trained medical professional and high standards of informed consent.

Continue reading ‘Is industry best practice in DTC genetics good enough?’

If you’re predicting disease, you should be regulated

Last week’s Congressional hearings on the direct-to-consumer genetics industry (featuring a provocative GAO report based on covertly recorded phone calls made to major DTC companies) have spurred plenty of discussion, including Daniel MacArthur’s post here at Genomes Unzipped and Dan Vorhaus’ post at Genomics Law Report.

But we disagree with some other Genomes Unzipped members about the regulatory future of the industry, and in particular we believe that medical interpretation of genetic data should be regulated.

Continue reading ‘If you’re predicting disease, you should be regulated’


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