Archive for the 'Opinion' Category

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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.

Are synthetic associations a man-made phenomenon?

Early last year David Goldstein and colleagues published a provocative paper claiming that many GWAS associations are driven not by common variants of modest effect (the canonical common disease – common variant hypothesis underpinning GWAS) but instead by a local cluster of lower frequency  variants that have much bigger effects on disease risk. They dubbed this hypothesized phenomenon “synthetic association” and the term quickly became a genetics buzzword. The paper was widely discussed in both the specialist and mainstream media, and caused quite a stir among academic statistical geneticists.

That debate has been re-opened today by a set of Perspectives in PLoS Biology: a rebuttal by us (Carl & Jeff) and our colleagues at Sanger, a rebuttal by Naomi Wray, Shaun Purcell and Peter Visscher, a rebuttal to the rebuttals by David Goldstein and an editorial by Robert Shields to tie it all together.

Continue reading ‘Are synthetic associations a man-made phenomenon?’

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.

Excessive regulation of DTC genomics will come at a cost

Caroline and I have an opinion piece in this week’s New Scientist arguing that regulators should consider the benefits of personal genomics (in terms of increasing genetic literacy and innovation) before imposing excessive regulation on the direct-to-consumer genetic testing industry. Here’s the take-home message:

We don’t yet know what role personal genomics will play in the future of medicine. However, we do know that it has great potential for innovation and education, and we must ensure that neither excessive regulation nor medical paternalism get in the way.

Unfortunately due to space restrictions several sections of our argument were cut – for instance, we spent some time arguing against the idea of arbitrary divisions of tests into “medical” and “non-medical” categories, with the former requiring supervision of a medical professional to receive results. Here’s the original wording:

Unlike many commentators, including the HGC, we do not support an unsustainable division of tests into separate categories, one for health-related tests that require counselling from a medical professional and another for everything else with no such requirement. It is hard to justify the argument that results suggesting a mildly elevated predisposition to obesity require a professional intermediary to provide support, while those indicating unexpected paternity do not.

In general, we would argue that people should be free to access their own genetic data unless there is good reason to believe that doing so will cause them real harm – and as long as the information is accurate and transparent. Companies should ensure that customers have access to expert advice if they want it, but medical supervision should not be a requirement for access to your own genome.

In a similar vein, if you missed the editorial on DTC genetics in last week’s Economist, you should go read it now. The final two paragraphs warrant quoting in full:

But three things argue against wholesale regulation. First, the level of interference needs to be based on the level of risk a test represents. The government does not need to be involved if someone decides to trace his ancestry or discover what type of earwax he has. Second, the laws on fraud should be sufficient to deal with the snake-oil salesmen who promise to predict, say, whether a child might be a sporting champion. And third, science is changing very fast. Fairly soon, a customer’s whole genome will be sequenced, not merely the parts thought to be medically relevant that the testing companies now concentrate on, and he will then be able to crank the results through open-source interpretation software downloadable from anywhere on the planet. That will create problems, but the only way to stop that happening would be to make it illegal for someone to have his genome sequenced—and nobody is seriously suggesting that illiberal restriction.

Instead, then, of reacting in a hostile fashion to the trend for people to take genetic tests, governments should be asking themselves how they can make best use of this new source of information. Restricting access to tests that inform people about bad reactions to drugs could do harm. The real question is not who controls access, but how to minimise the risks and maximise the rewards of a useful revolution.

It’s great to see these issues getting sensible discussion in the wider media; let’s hope the FDA is paying attention.

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’

Should you trust a genome scan?

(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 my response to one of Mary’s questions: How does she know if she can trust the results, and should she be scared of what she might find out? A summary is also posted on the Newsweek website along with answers from Thomas Goetz, Hank Greely, Robert Green and Misha Angrist.

Genomes Unzipped is well-represented in Mary’s project: Jeff Barrett wrote about risk predictions yesterday, and tomorrow our resident legal expert Dan Vorhaus will be discussing the present and future state of regulation of the DTC genetic industry.)

The results you receive from genetic testing companies rely on two critical steps: firstly, the generation of your raw genetic data; and secondly, the interpretation of that data into information about your ancestry, family and disease risk.

For reputable genetic testing companies – and I would count the four major personal genomics companies (23andMe, deCODEme, Navigenics and Pathway Genomics) in this category – the first step is generally extremely accurate. These companies rely on the same technology used by academic researchers studying the genetic basis of human disease, applied in carefully quality-controlled labs, so their error rate is typically very low. As an illustration, I recently had an opportunity to compare the raw genetic data provided by two companies to Times journalist Mark Henderson, and found an error rate per company of around one in every 14,000 data points: that’s far better than most routine clinical tests.
Continue reading ‘Should you trust a genome scan?’

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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