The Past, Present and Future of DTC Genetic Testing Regulation
[Editor’s Note: Newsweek science editor Mary Carmichael has a DNA Dilemma. As Carmichael debates whether to take a direct-to-consumer (DTC) genetic test, she is soliciting feedback from the DTC community, from the public and from other commentators, including myself. At the end of the week, she will make her decision.
On Tuesday, Carmichael and five commentators examined what can be learned from a DTC genetic test. Yesterday, the topic was whether DTC genetic tests are trustworthy, and whether the results can be cause for concern. Today’s topic is the regulation of DTC genetic tests. In addition to several short commentaries, including a much shorter version of the piece below, Carmichael has also posted a lengthy interview with two top FDA officials on the subject of DTC genetic testing regulation.
The column below is an expanded version of what appears over at Newsweek. To see all of the commentaries in Carmichael’s series, click here.]
The recent media attention focused on direct-to-consumer (DTC) genetic tests has left companies, investors, consumers and even regulators scrambling to figure out what comes next.
As the situation stands today, companies and their investors live in a climate of unprecedented regulatory uncertainty, causing delays in the introduction of new products and rendering an already inhospitable economic climate – for both fundraising and sales – even more challenging. Commentators and regulators caution consumers that some DTC genetic tests may be unreliable or, worse, harmful, but have yet to provide clear tools and guidelines for evaluating competing tests. And regulators, including the FDA, must balance their mandate to protect the health and safety of the public with that same public’s desire for autonomy, while also recognizing that innovation is a prerequisite for a healthcare system that must continue to improve outcomes while reducing costs.
Clearly, something must change. But what will that change be? And how will the field of DTC genetic testing evolve? Will DTC be able to continue its current business while regulators and companies engage in protracted negotiations? Will oversight weed out the “snake oil salesmen” and permit legitimate companies to flourish? Will it drive all genetic testing (temporarily) out of the hands of consumers?
Or will the field change in a dramatic and completely unexpected way?
“From Gulf Oil to Snake Oil”: Congress Takes Aim at DTC Genetic Testing
It has been a busy week in Washington for direct-to-consumer (DTC) genetic testing companies. Following public FDA meetings and a new round of FDA device notification letters earlier in the week, representatives from three major DTC genetic testing companies (23andMe, Navigenics and Pathway Genomics) were hauled in front of Congress today to defend their companies, their industry and the practice of DTC genetic testing.
The hearing on “Direct-To-Consumer Genetic Testing and the Consequences to Public Health” was conducted by the House Committee on Energy and Commerce Subcommittee on Oversight and Investigations. The meeting was chaired by Representative Bart Stupak of Michigan. Materials from the hearing, including a briefing memorandum, opening statements from Stupak and Representative Henry Waxman of California and witness testimony are available on the Committee’s website. Also available are materials from the Government Accountability Office (GAO) investigation into DTC genetic tests. These materials include the report the GAO submitted to Congress – “Direct-to-Consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices” (pdf) – as well as a YouTube video featuring excerpts from undercover phone calls made by the GAO to DTC companies as part of their investigation (both of which are discussed in detail below).
While You Were Meeting: FDA Mails Letters to 14 More Genetic Test Providers
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.
The Conversation Continues: Recap from Day Two of FDA’s Regulatory Meeting
The second and final day of the FDA’s “Public Meeting on Oversight of Laboratory Developed Tests” (LDTs) brought forth many of the same comments and themes as the first. The primary difference was that, whereas the first day began with some comments from the Agency that provided a few hints about what the FDA has in store for LDTs, the second day was notable for the FDA’s near-total silence (although key officials were present and listening). Indeed, perhaps the loudest applause of the day was reserved for Sharon Terry of Genetic Alliance, who remarked that while she was glad the FDA had invited so many comments, “it would be nice [if the Agency] would say something back.”
Something Old, Something New. In addition to a reiteration of yesterday’s themes – especially the need for additional data demonstrating how LDTs are used and what harms, if any, they have inflicted on consumers and patients – a few new areas of discussion emerged over the course of the day. Those included:
Personal Genomics Goes to Washington
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.
Consumer Genetics Needs More Transparency, Not Excessive Regulation
Editor’s Note: Daniel MacArthur, a researcher at the Wellcome Trust Sanger Institute in Cambridge, UK, and the author of Genetic Future, co-wrote this post, which originally appeared in Xconomy.
Are you ready for consumer genetics? Is your government?
Recent announcements of federal investigations into the budding direct-to-consumer (DTC) genetic testing industry suggest that authorities are preparing to increase regulation of companies offering consumers access to their own genetic data. However, rather than rushing in to clamp down on the industry, regulators should slow down and focus, first, on understanding this complex field.
An increasing number of individuals are exploring their genetic information using tests purchased directly over the Internet. For between $100 and $1,000 consumers can purchase a saliva collection tube, spit in the tube, and mail it back to the company. A few weeks later the results are available online. One DTC genetics company, 23andMe, recently announced that it had provided its test to over 30,000 customers.
Genetic tests can provide the consumer with personalized information ranging from eye color, to ancestry, to risk of common diseases such as diabetes. Many companies include all of these traits and more in a single product examining hundreds of thousands of genetic markers. For the moment, these tests are available to anybody with a computer and a sense of curiosity. But that could all change.
Read the rest of this entry >>
Breaking: FDA Moves to Broadly Regulate LDTs
Earlier today, the U.S. Food and Drug Administration (FDA) announced that it will hold a public meeting July 19-20 to “discuss how the agency will oversee laboratory-developed tests (LDTs).” The FDA has made several high-profile announcements over the past month – particularly in the area of direct-to-consumer (DTC) genetic testing – but today’s development, despite its not receiving the same degree of media attention, is likely the most significant development to date.
Why? Until today, the FDA’s recent announcements have involved a series of letters to DTC genetic testing companies, beginning last month with Pathway Genomics and continuing last week with letters to five other prominent DTC companies. Despite all of the attention paid to these letters, the sum total of the FDA’s regulatory focus amounted to only a handful of products. Today’s announcement, on the other hand, declares the FDA’s intent to much more aggressively regulate the entire field of LDTs. While an exact count of the number of LDTs available is impossible, GeneTests.org lists more than 2,000 genetic tests from nearly 600 laboratories, numbers which do not even include genetic tests and other diagnostic products offered DTC. After having been criticized for a policy of case-by-case regulation, the FDA has answered with a move to regulate the entire field of laboratory-based testing.
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Challenging the FDA: A History Lesson for DTC Genetics
Last week the FDA sent letters to five personal genomics companies alleging that the companies are manufacturing and selling medical devices without appropriate FDA review. The FDA’s decision to substantially increase its regulatory oversight of some of the most prominent direct-to-consumer (DTC) genetic service providers has met with a mixed reaction. Supporters of the move argue that these DTC products are medical in nature and require more stringent regulatory controls. Critics, including at least one of the companies receiving a letter (23andMe), fault the FDA for adopting a paternalistic stance to personal genetic information and imposing unnecessary regulatory controls.
What’s Next for DTC? In last week’s post, we outlined several possible responses available to DTC genetics companies, including (1) pulling products from market, (2) agreeing to comply with FDA regulatory requirements, (3) modifying products to avoid FDA oversight or (4) challenging the FDA’s regulatory authority over DTC genetic testing products. We also noted the possibility that the FDA’s decision to look more closely at DTC genetic tests could presage increased scrutiny of the genetic testing industry more broadly, including the many tests currently offered without FDA clearance or approval as laboratory developed tests (LDTs).
Breaking: Congressional Committee Requests Additional Information Regarding 23andMe Sample Swap
Nearly a month ago we reported that the House of Representatives Committee on Energy and Commerce had launched an investigation into direct-to-consumer (DTC) genetic testing, sending letters to several of the most prominent DTC companies: 23andMe, Pathway Genomics and Navigenics.
Today the Committee has followed up with another letter, this one directed to 23andMe president and co-founder Anne Wojcicki, inquiring into the circumstances surrounding the company’s recent and widely reported sample swap. The letter (pdf), which is signed by the same four Representatives (Waxman, Barton, Stupak and Burgess) requests the following:
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What Five FDA Letters Mean for the Future of DTC Genetic Testing
The FDA has published online letters sent to five personal genomics companies – 23andMe, Navigenics, deCODE Genetics, Knome and Illumina – informing the companies that they are manufacturing and selling medical devices without appropriate FDA premarket review and approval. No surprise that the news that the FDA has sent out letters to some of the most well-known providers of DTC genetic testing products is already making waves. (Daniel MacArthur was the first to point me to the AP story, and Mary Carmichael of Newsweek and Andrew Pollack of The New York Times were among the first to dive into the substance of the letters.)
Below, we will discuss the immediate and long-term implications of the FDA’s most recent regulatory actions for the five companies receiving letters, as well as for the DTC genetic testing industry. First, however, a review of the letters themselves is required. Each of the five two-page letters is signed by Alberto Gutierrez, Director of the FDA’s Office of In Vitro Diagnostic Device Evaluation and Safety (OIVD), and follows a similar format throughout. To gauge the impact of these letters we will take them paragraph by paragraph.
