FDA LDT Regulation

On June 16, 2010, the U.S. Food and Drug Administration (FDA) announced its intention to dramatically expand its regulatory oversight of laboratory-developed tests (LDTs). For years, the FDA had adopted a policy of “enforcement discretion” in declining to closely regulate LDTs. However, an expanding and changing LDT marketplace, along with heightened government and media scrutiny of certain LDTs, including high-complexity tests and tests marketed directly to consumers (DTC), has caused the FDA to reconsider its policy of enforcement discretion. This page aggregates all of the Genomics Law Report’s coverage of the FDA’s ongoing attempt to develop a comprehensive system of oversight for LDTs

What does the FDA Approval of the MiSeqDx Platform Mean for DTC?

FDA v DTCOn November 19, 2013—three days before the highly-publicized warning letter to 23andMe (See here and here)—the U.S. Food and Drug Administration announced that it had given approval for the marketing of four Illumina MiSeqDX medical devices. They include two cystic fibrosis genetic assays as well as the Illumina MiSeqDX instrument platform and Illumina Universal Kit reagents. The FDA’s press release characterizes them as “devices that can be used for high throughput gene sequencing, often referred to as ‘next generation sequencing’” (NGS). These instruments, reagents, and test systems allow labs to sequence a patient’s DNA (deoxyribonucleic acid).

What does the FDA’s approval of the MiSeqDx platform for the clinical market mean for the DTC industry? For example, does this mean that 23andMe could just switch platforms from the Illumina HumanOmniExpress-24 format chip to MiSeqDx and be free from future FDA meddling? Could new companies enter the industry free from regulatory burdens by using Illumina’s MiSeqDx platform? Don’t bet on it.

It is likely that the FDA would take the position that its 510(k) premarket approval (a process John explained briefly on December 3) of the MiSeqDx instrument and MiSeqDx Universal Kit was not intended to be a blanket “go ahead” for DTC providers to offer a service like 23andMe’s Personal Genome Service®. Rather, it is more likely that the FDA would insist on review and pre-market approval of MiSeqDx as an next-generation sequencing in vitro diagnostic (or NGSIVD) if it were used for any purpose other than return of raw genomic data (i.e., if any interpretation were provided along with that raw data). It is also unclear to what extent these FDA approvals will allow future applicants to rely on the approved MiSeqDX products as “predicate devices” to clear some of the regulatory hurdles more easily. (Specifically, the future applicant would claim that its device was “substantially equivalent” to the already-approved device.)

The FDA’s own press release nowhere mentions a non-patient consumer. The press release emphasizes how next-generation sequencing technologies are “becoming more accessible for use by physicians,” underscoring the FDA’s continued insistence that clinicians be the gatekeepers for accessing information about one’s genome. The press release states front and center: “The new technology also gives physicians the ability to take a broader look at their patients’ genetic makeup and can help in diagnosing disease or identifying the cause of symptoms.”

The FDA’s approval of the MiSeqDx platform is thus intriguing, but the future regulation of DTC genomic testing remains uncertain. The 510(k) approval of the MiSeqDx platform may signal that raw data provided DTC might be acceptable to the FDA but that interpretation of that genomic data in any way related to health would still provoke FDA scrutiny and, possibly, hostility. Could a DTC provider use the MiSeqDx platform and successfully argue that its interpretation of raw data is a Laboratory Developed Test (LDT; a test manufactured and used within a single CLIA-certified lab) and, therefore, potentially outside the reach of the FDA? We can’t say for sure at this point. As for the implications of this for 23andMe, as I reported on December 6, current indications suggest that the company is still trying to gain FDA approval of its Personal Genome Service.

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Update: 23andMe appeases FDA

FDA v LDTIn an effort to quiet the storm, 23andMe has announced that it does intend to continue seeking FDA approval and that, while that process is ongoing, it will no longer provide health-related information to new customers. Customers whose Personal Genome Service® kits were ordered prior to November 22, 2013 will still have access to that information; however, customers whose PGS was ordered after the FDA warning letter will only have access to ancestry information and their raw data. The company also announced that it would offer a refund to those who ordered the PGS on or after November 22, 2013.

So is this a victory for the FDA? Is this a loss for 23andMe? A setback for consumers? A win for anyone?
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Reader Response . . .

James P. Evans, Bryson Distinguished Professor of Genetics & Medicine and Editor-in-Chief of Genetics in Medicine, responds to my post on the FDC “warning letter” to 23andMe:

I liked your piece – with one exception. You say you are “libertarian” in the medical realm. This could make sense if you paid for all of your medical care. But you don’t – and I warrant even Bill Gates doesn’t. We’re all in some kind of insurance scheme, be it private or public. Thus, the libertarian argument (“It’s my body, I want this test/treatment/etc”.) doesn’t fly in my mind.

When medical tests are misused, we all pay – even if you pay for the initial test itself – because of downstream costs. If I give someone antibiotics inappropriately because they make the libertarian argument and even offer to pay for the prescription out of pocket, the problem is that the complications of antibiotic resistance may well cause downstream complications for them that their insurance (and thus I) have to pay for.

By the same token, if people use that argument to get inappropriate complex testing (e.g. a 23andMe profile or a whole-body MRI), we all end up paying for the (inevitable) downstream costs. Simply put, we all have a stake in seeing that complex medical tests are used appropriately. Thus, the FDA’s action was entirely reasonable and appropriate.

So, since your hand is in my pocket when it comes to medical care, I just don’t see the libertarian argument working, even putting aside my concerns about harm to people (which we all, I think, want to avoid) and my (admittedly paternalistic) view that we have to protect people from slick advertisements and themselves.

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Filed under FDA LDT Regulation, General Interest, Genomic Policymaking, Genomics & Medicine, Genomics & Society, Legal & Regulatory

If 23andMe Falls in the Forest, and There’s No One There . . .

FDA v LDTGenomics Law Report has paid close attention to the FDA’s potential regulation of laboratory developed tests (or LDTs) over the years. We have decided to address the most recent development – a cease and desist letter sent by the FDA to 23andMe – in two posts — by Jennifer Wagner and by John Conley.

On November 22, 2103, the Food and Drug Administration issued a “warning letter” to Google-backed 23andMe demanding that the company “immediately discontinue marketing” its Saliva Collection Kit and Personal Genome Service (PGS), a direct-to-consumer (DTC) genomic testing service. The letter states that 23andMe markets the PGS as a source of “health reports on 254 diseases and conditions,” and “specifically as a ‘first step in prevention’ that enables users to take ‘steps toward mitigating serious diseases’ such as diabetes, coronary heart disease, and breast cancer.” Consequently, the FDA concludes, the PGS is a medical device subject to FDA regulation, as opposed to a mere source of information, as 23andMe has long contended. Because 23andMe has not obtained required approvals, the FDA claims the authority to order its removal from the market.

The letter has already generated tremendous interest in the media and among investors. Jen Wagner and I have been deluged with questions from both groups. Here are my thoughts on some of the most frequently asked questions. As you’ll see, my overall reaction is: calm down, take a deep breath, it’s not that big a deal. Jen has posted her views here.
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The Sky is Falling for Personal Genomics! Oh, nevermind. It’s just a cease & desist letter from the FDA to 23andMe.

FDA v LDTGenomics Law Report has paid close attention to the FDA’s potential regulation of laboratory developed tests (or LDTs) over the years. We have decided to address the most recent development – a cease and desist letter sent by the FDA to 23andMe – in two posts — by Jennifer Wagner and by John Conley.

A brief background for the newcomers

23andMe, Inc. was founded in 2006. Its personal genomics service launched in 2007 and was named Time Magazine’s Invention of the Year in 2008. Just before the Thanksgiving holiday in 2009, 23andMe split its all-in-one service into two separate editions for ancestry and health and raised its price. The following year, just before the 2010 Thanksgiving holiday, 23andMe scratched its business model with separate health and ancestry editions in favor of a return to the all-in-one service with a new mandatory annual subscription fee. By June 2011, the company boasted 100,000 users and in late 2012 lowered its price to $99 to aim for one million users. Recently, 23andMe ramped up its marketing, launching its very first TV ad campaign called “Portraits of Health” in August 2013.

Company’s run-ins with the FDA

On June 10, 2010, the company—along with several other direct-to-consumer (DTC) providers—received a cease & desist letter from the FDA. A full two years later, on July 30, 2012, the company touted it was the first of its kind to
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The FDA, Social Media & Consumer Genomics: A Lot Not to “Like”

pharma-social-mediaLast week, the FDA published on its website a warning letter to AMARC Enterprises, Inc., a marketer of a dietary supplement known as Poly-MVA. (Here is the company’s description of the supplement.) While the letter is not addressed to a high-profile company or product, given that the FDA’s action will likely have broader significance beyond just AMARC and its Poly-MVA supplement, all currently or potentially FDA-regulated entities, including consumer genomics companies, should take note.

The AMARC letter, issued by a regional compliance office and dating to this past December, is unremarkable in most respects. The majority of the letter focuses on website copy, printed information packets, customer testimonials and other materials that appear, at least to the FDA, to represent claims made by AMARC that the Poly-MVA supplement is “intended for use in the cure, mitigation, treatment, or prevention of disease,” thus making it a drug subject to FDA regulatory approval.


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DNA DTC: The Return of Direct to Consumer Whole Genome Sequencing

This morning, Gene By Gene, Ltd. – better known as the parent company of the popular genetic genealogy provider Family Tree DNA – formally announced a corporate reorganization that includes the debut of a new division, DNA DTC. (Apparently the news was also announced earlier this month at the Family Tree DNA Conference, although the company waited until today to launch press releases.)

The announcement from Gene By Gene is newsworthy for several reasons, including:

1. The Return of True DTC Whole Genome and Whole Exome Sequencing. According to DNA DTC, the company offers a range of products “utilizing next generation sequencing including the entire exome (at 80x coverage) and the whole genome.” The company’s website, while fairly spartan, appears to bear this out. Whole exomes ($695 at 80x coverage) and genomes ($5,495 at 30x coverage) are both listed as available products.

Now, Gene By Gene is not, as its Wikipedia page claims (as of this writing), “the first commercial company to offer whole genome sequencing tests.” Knome earned that honor more than four years ago, when it started selling whole genome sequences for $350,000; an astounding price, either low (given the cost of the first human genome was $3 billion) or high (given that, well, it was $350,000) depending on your perspective. Gene By Gene probably does represent, however, the only commercial company currently offering a whole genome sequence in a truly direct-to-consumer (DTC) manner.


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Filed under Direct-to-Consumer Services, FDA LDT Regulation, General Interest, Genetic Testing/Screening, Genomic Sequencing, Genomics & Society, Industry News, Informed Consent, Privacy

23andMe Seeks FDA Clearance (Podcast)

Last week, personal genetics company 23andMe announced that it had formally delivered the first round of documentation to the U.S. Food and Drug Administration (FDA) in an attempt to receive 510(k) clearance for its consumer product.

23andMe declared itself “first in the [ direct-to-consumer (DTC) genetic testing] industry to announce it is working towards FDA clearance.” That first followed another first for the company earlier in the summer: 23andMe’s first patent, which covers a method of predicting susceptibility to Parkinson’s Disease.

I sat down last week with The Burrill Report to discuss 23andMe’s recent activities and their implications for the future of DTC genetic testing and personalized medicine. You can listen to the complete podcast here.

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Updating the DTC Debate: Trial by Press Release, More FDA Letters, the Problem of Pleiotropy and New RUO Guidance

Later today I will join several colleagues here in Chicago, IL at the American Society of Clinical Oncology (ASCO) annual meeting for a panel discussion on Direct-to-Consumer Genetic Testing for Cancer: What Physicians Need to Know (pdf). (Daniel MacArthur and Misha Angrist will not be on the panel, although each joined us in authoring the pre-conference paper.)

This will, I believe, mark direct-to-consumer (DTC) genetic testing’s formal debut at ASCO. It should also serve as another reminder that, despite its relatively small numbers (both in terms of dollars and customers), DTC genetic testing continues to exert an outsized influence when it comes to conversations about the future of genomic medicine. This is particularly true when the discussion turns to appropriate policy and regulatory oversight.

In advance of ASCO, here are several items of interest from the past few weeks in DTC genetic testing.


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Closer Scrutiny Ahead for DTC Genetic Testing Claims

The FDA’s public meeting on the future of clinical direct-to-consumer (DTC) genetic testing (which we have covered herehere and here) is continuing to draw significant attention from the media and other commentators. Most of the coverage, especially over the past 7-10 days, has added little that is new in the way of either reporting or analysis. One exception, however, comes from Robert VerBruggen of National Review in his column on “The FDA’s Genetic Paternalism.”

What’s new and interesting here is not the substance of VerBruggen’s analysis. Whether or not you agree with Verbruggen’s particular formulation, the “paternalism” critique of proposed FDA regulation of DTC genetic testing is not new. What caught our eye is a comment from deCODE genetics’ CEO Kári Stefánsson. When questioned by VerBruggen about his company’s marketing of its DTC genetic test offering, deCODEme (see screenshot) – which includes statements such as “your genes are a road-map to better health” – here is how Stefánsson responded:

“I think that is both cheesy and somewhat incorrect. I don’t know who came up with that, but whoever it is, is going to be duly punished,” [Stefánsson] said. “I think it’s safe to say we’ll probably be removing that statement and putting up something that at least sounds better.”

After its well-publicized 2009 bankruptcy, deCODE emerged in 2010 as a privately-held company and so it is unlikely the public will know whether Stefánsson follows through with his promise to “duly punish” the source of the “road-map” statement. On the other hand, whether and how deCODE follows through with Stefánsson’s not-quite-a-promise to change deCODEme’s marketing and claims is something that will happen in full view of the public.


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