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Why The FDA Can't Be Flexible With 23andMe, By Law

This article is more than 10 years old.

"One of the challenges is the world has been evolving and yet we have legislation that reflects a different era."

             – Margaret Hamburg, Commissioner, U.S. Food and Drug Administration

Image via CrunchBase

Almost a year ago, at the inaugural Forbes Healthcare Summit 2012, I asked a question of the FDA Commissioner as she was being interviewed by Forbes's Matthew Herper on the agency's perpetual conundrum: how to balance innovation with safety.

The FDA can only enforce the food, drug, and medical device laws that Congress has passed. As such, timely action by the medical science professionals at FDA must often lag behind the political process.

I invoked herbal dietary supplements as an example where the FDA cannot demand prospective safety and efficacy testing, as with prescription and OTC drugs, because of the 1994 Dietary Supplement Health and Education Act. With these products, the FDA has only two general options protecting consumers.  If the marketed product proves unsafe and adverse reactions are reported, the FDA can pressure the company to issue a product recall and confiscate unsold product. If the manufacturer markets the product to prevent, treat, or diagnose disease, the FDA can cite the product as an "unapproved drug" and order the immediate cessation of sales.

I asked Dr. Hamburg if she were to have any power that FDA currently lacks, what would it be? The central thesis of her reply was:

"I also think we need to find a way – maybe it's just completely unrealistic – where we can have more flexibility in the system so that every time there's a crisis or a recognition of a need to do more...we don't have to go through the process of seeking new legislation."

My question and Dr. Hamburg's response appears beginning at 5:50 of the part 3 video. Herper has the complete interview and Q&A session in three parts at this post.

Flexibility in the age of personal genomics

This opportunity to engage with the Commissioner sat at the front of my mind this week as the agency ordered the personal genomics company, 23andMe, to stop selling their $99 home DNA collection kits – or spit kits. (The company extracts and analyzes the DNA of epithelial cells lining your mouth that slough off in your saliva.)

The company then uses DNA chip technology to determine your combination of single-nucleotide polymorphisms – single changes in the G, A, T, C bases at known variable regions of our DNA – to tell you some predictive conclusion based on scientific publications where those changes are associated with a disease risk, drug response, and even your geographical ancestry. Their detailed reports on your results include easy-to-understand summaries of your data, but also offer more technical information and links to original research publications so you can read about the rigor with which those conclusions are based.

Where 23andMe got into trouble was regarding those results on disease risk and drug response, potentially actionable results. The FDA, whose specialists had been working with the company for almost two years on the issue, declared that the analytical reports provided to customers rendered the saliva collection kits a "medical device," the same class of products that range from blood pressure cuffs and diabetic glucose monitoring gadgets to pacemakers and implantable cardiac defibrillators.

The aforementioned Matt Herper led the analysis of the controversial announcement with his uncharacteristically impassioned post, 23andStupid: Is 23andMe Self-Destructing? Herper notes that the FDA ruling shouldn't be controversial, or even unexpected, since the agency's warning letter clearly outlined its attempt to help the company comply with the Federal Food, Drug, and Cosmetic Act of 1938, as amended in 1976 to include medical devices. President Gerald Ford's statement upon signing the amendment to the Act tells us how the need arose for this new legislation.

As I know that many of you won't click over to the warning letter itself, let me excerpt this most comprehensive passage that follows the agency's articulation of its assistance efforts to date:

However, even after these many interactions with 23andMe, we still do not have any assurance that the firm has analytically or clinically validated the PGS [Personal Genome Service] for its intended uses, which have expanded from the uses that the firm identified in its submissions. In your letter dated January 9, 2013, you stated that the firm is “completing the additional analytical and clinical validations for the tests that have been submitted” and is “planning extensive labeling studies that will take several months to complete.” Thus, months after you submitted your 510(k)s and more than 5 years after you began marketing, you still had not completed some of the studies and had not even started other studies necessary to support a marketing submission for the PGS. It is now eleven months later, and you have yet to provide FDA with any new information about these tests.  You have not worked with us toward de novo classification, did not provide the additional information we requested necessary to complete review of your 510(k)s, and FDA has not received any communication from 23andMe since May. Instead, we have become aware that you have initiated new marketing campaigns, including television commercials that, together with an increasing list of indications, show that you plan to expand the PGS’s uses and consumer base without obtaining marketing authorization from FDA.

Therefore, 23andMe must immediately discontinue marketing the PGS until such time as it receives FDA marketing authorization for the device. [emphasis mine]

As if that's not brazen enough, the company is still selling its DNA collection kits as of 8:00 a.m. today, November 28, 2013.

Bigger issue than any one company

One might be inclined to say that this isn't going to end well. But I submit that the 23andMe case will prove to be a watershed in deciding how we are going to regulate individual freedom of access to one's own DNA sequence, who is qualified to interpret the results, and who is responsible for personal or medical actions following from the information provided.

Like most who've written on the topic this week, I am a 23andMe customer who paid for three kits from personal funds to run SNP chips on my DNA and that of my wife and daughter back in 2010. I had written about the story in advance of Christmas, 2010, and suggested that readers might make a nice gift package with a 23andMe kit by adding the book, Here Is A Human Being, by my Duke genomics and policy colleague, Misha Angrist.

Angrist was the fourth member of George Church's Personal Genome Project, and had his complete genomic sequenced. In his book, he speaks his experience with the project and more broadly about genetic privacy, including how the information encoded by his DNA sequences might influence knowing about the future disease risk of his daughters. Angrist's dry sense of humor that pervades the book is also apparent in the lead quote of yesterday's New Yorker piece by David Dobbs, perhaps the most comprehensive and accessible essay among those offered this week on the company and regulation of personal genomics information.

Our family doesn't have any remarkable results save for my possession of one SNP that causes one copy of a drug metabolizing enzyme to be slower than normal. That would only modestly affect the dosing of certain drugs I might take, none of which I'm currently using.

But for others, concerning data could be revealed as related to genetic diseases and actionable cancer risk, such as the BRCA1 and BRCA2 gene mutations that dramatically increase a woman's risk of breast cancer, and ovarian cancer to a lesser extent.

I honestly don't think that a person would seek medical action based on the results of a $99 kit. Certainly, no physician I know would act on information from a 23andMe kit, yet. Psychologist and science writer, Andrea Kuszewski, tweeted about her experience with a physician during her recent cancer scare:

When I was having my biopsies for breast cancer a few months ago, the surgeon never even heard of 23andMe.

And Kuszewski lives in the intensive medical and technology hub of San Francisco.

The most crucial question here is whether the FDA and 23andMe cooperate to advance a solution to their disagreements. As Herper notes, the legal battle to come has the potential to bankrupt the company. But as Razib Khan points out, this is not a single, isolated case. Personal genomics information is here to stay and is getting cheaper by the day. While DNA sequences don't tell us everything about disease risk, they can ultimately help people live healthier lives by pointing to preventive interventions in their diet or in early screening for diseases at increased likelihood to pop up. We will soon be walking around with our complete genome sequences on a flash drive, or maybe in an implantable subdermal chip.

My apologies in advance to all writers whose input I have synthesized here over a week of internet reading osmosis. Please feel free to add your ideas and links to your posts in the comment thread below. To his credit, David Dobbs has kindly put forward an updated list of links to others' writing on the 23andMe topic that you can read at your leisure over the long Thanksgiving weekend (for those of you in the U.S.) – or the plain old weekend for others.

Update (5 December 2013, 10:30 pm EST): As reported tonight by Matthew Herper, 23andMe has agreed to discontinue providing medical information on customers' results for anyone who purchased a kit after November 22nd. Genealogical information, however, will still be provided. Those of us who purchased ours before then will still retain access to our information. For those who bought their kits after November 22nd with the intention of garnering the same results, 23andMe will offer refunds if requested.