Tag Archive for 'FDA'

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.

Using 23andMe to confirm identical twinnery, and a chance to tell the FDA what you think about DTC genetics

Over at Daily Kos, Michael Convente shares a fascinating story of using 23andMe data to pin down the precise relationship he has with his twin brother Matt. When Mike and Matt were born, the obstetrician told their mother that the presence of two separate placentas indicated that the brothers were non-identical (fraternal) twins – yet their incredibly similar appearance while growing up (see photo on left) suggested otherwise. Testing with 23andMe confirmed what the brothers had always suspected: that they are in fact identical twins. This is a useful reminder of the non-medical value of accessible genetic information: when it comes to unravelling these kinds of family mysteries, direct access to large-scale genetic data can be a powerful tool. [DM]

Readers who care about access to genetic information (i.e. all of you) and who are concerned about the potential effects of regulation on this access and on innovation in the field in general will soon have an opportunity to make their voices heard. Thanks to the efforts of Dan Vorhaus and others, the FDA has agreed to reopen the opportunity for public submissions while it deliberates on its next move following the agency-sponsored meeting on direct-to-consumer genetics last month. The submissions docket is apparently due to reopen today, and will remain open to submissions until the 2nd of May – so you all have a month to get your opinions in there. You’ll hear more from us about the process of submitting to the docket over the next week or so. [DM]

On a related note, genetic counsellor Christine Patch and academic (and Unzipped guest blogger) Barbara Prainsack have penned a response to the above-mentioned FDA meeting for BioNews. Patch and Prainsack provide a welcome note of nuance to the discussion; their final two paragraphs are worth quoting in full:
Continue reading ‘Using 23andMe to confirm identical twinnery, and a chance to tell the FDA what you think about DTC genetics’

Analysing your own genome, bloggers respond to the FDA and more reporting on bogus GWAS results

Razib Khan, more known for his detailed low-downs of population biology and history, has written an important post on Gene Expression, explaining in careful detail exactly how to run some simple population genetic analysis on public genomes, as well as on your own personal genomics data. The outcome of the tutorial is an ADMIXTURE plot (like the one to the left), showing what proportion of your genome comes from different ancestral populations. This sort of analysis is not difficult, but it can often be hard to know how to start, so Razib’s post gives a good landing point for people who want to dig deaper into their own genomes.

This tutorial also ties in to some political ideas that Razib has been talking about since the recent call to allow access to genomic information only via prescription. If you are worried about losing access to your genome, one option is to ensure that you do not require companies to generate and interpret your genome. As sequencing, genotyping and computing prices fall, DIY genetics becomes more and more plausible. Learn to discover things about your own genome, and no-one will be able to take that away from you. [LJ]

Continue reading ‘Analysing your own genome, bloggers respond to the FDA and more reporting on bogus GWAS results’

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’

Personal genomics: a voyage of exploration

The last few months have seen the brave new world of personal genomics thrown into a state of turmoil, as the might of US federal regulators turns on this fledgling industry. There is no question that some level of regulation would be welcomed, to iron out the irregularities and squeeze out the fraudsters. But hidden somewhere in amongst the hype and the scaremongering are some real gems that we should not abandon lightly. Take note, please, Mr Regulator.

Some of the recent crop of consumer genomics companies are true innovators, pioneers attempting to navigate the treacherous complexities of modern human genetics. Their attempts at presenting complicated genomic and risk information in an accessible form have been exemplary. Is the information useful? For the most part, no. Is it harmful? Again, so far the answer is a resounding no. So what’s the problem? Speaking to numerous individuals who have had their genomes scanned reveals that most are notably under-whelmed by the experience – they didn’t learn much of direct use, and they haven’t changed their lifestyles. But individuals are free to chose to purchase these tests, or not, and to decide for themselves whether it is worth parting with their hard-earned cash.

Continue reading ‘Personal genomics: a voyage of exploration’

A sad day for personal genomics

(A reminder: posts on Genomes Unzipped represent the views of individual authors, not the group as a whole.)
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. (You can read the written testimony of the speakers here, and Dan Vorhaus has a fantastic summary 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.
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.
Here’s the tape. Brace yourself:

Continue reading ‘A sad day for personal genomics’

While You Were Meeting: FDA Mails Letters to 14 More Genetic Test Providers

(Cross-posted to Genomics Law Report.)

Earlier this week the FDA held a widely publicized two-day public meeting to discuss its planned regulation of laboratory developed tests (LDTs) (for more see: Day One Recap and Day Two Recap). Other than Monday morning, when the FDA presented background information on LDTs and some of the considerations that have pushed the agency to pursue a “risk-based application of oversight to LDTs,” the top agency officials at the meeting were conspicuously quiet. Elsewhere, however, the FDA was doing plenty of talking.

In letters dated July 19th, the first day of the FDA’s public LDT meeting, the agency continued its crackdown on direct-to-consumer (DTC) genetic test providers, mailing letters to 14 providers of genetic tests. A list of all 14 companies and tests appears below.

Continue reading ‘While You Were Meeting: FDA Mails Letters to 14 More Genetic Test Providers’

Personal Genomics Goes to Washington

(Cross-posted to Genomics Law Report.)

Next week, the eyes of the personal genomics world will be focused on Washington, D.C., where the FDA and Congress will be meeting separately to consider the industry’s future. First, the FDA will convene a highly-anticipated public meeting (July 19th and 20th) to “discuss how the agency will oversee laboratory-developed tests (LDTs).” The FDA announced last month a proposal to develop a “risk-based” approach to oversight of all LDTs – a broad category that includes the vast majority of genetic tests, including high-complexity diagnostic tests (IVDMIAs) and direct-to-consumer (DTC) genetic tests. Hot on the heels of the FDA meeting, on July 22nd, the House of Representatives Committee on Energy and Commerce – which two months ago launched its own investigation into the personal genomics industry – will hold a subcommittee hearing on “Direct-to-Consumer Genetic Testing and the Consequences to the Public Health.”1

While the genomics and personalized medicine communities anxiously await the upcoming FDA and Congressional meetings, yesterday the future of personal genomics was being debated on the opposite coast, at a policy forum in San Francisco entitled “Genomics and the Consumer: The Present and Future of Personalized Medicine” (pdf). The forum, which was hosted by California State Senator Alex Padilla (sponsor of S.B. 482, the so-called “bioinformatics bill”) and personal genomics company 23andMe, was filled with speculation from personal genomics investors, providers, customers and commentators about what the FDA and Congress might have in store for the field.

Continue reading ‘Personal Genomics Goes to Washington’

Page optimized by WP Minify WordPress Plugin