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Genetics and Health 2.0 vs. the Old Guard

Tuesday, March 15, 2011

Many scientists worry that an overaggressive Food and Drug Administration could strangle a revolutionary technology still in its infancy.

If anyone wondered whether there was substance to President Obama’s January declaration that he had ordered federal agencies to dial back burdensome rules on startups and small businesses, last week was telling. After two days of hearings on the regulatory future of direct-to-consumer (DTC) DNA tests, a special Food and Drug Administration (FDA) panel urged the government to require all Americans to obtain a prescription before they either order a personal genetic test or review one.

These saliva tests, at a starting price of $200 (and falling), provide consumers with a relatively inexpensive window into their personal genetic makeup—a way to discover a vast array of health information, from disease genes they may carry to their ability to taste bitterness in vegetables.

The test can be taken at home without involving the time and expense of a doctor visit. That flexibility has irked some in the regulatory and medical communities, particularly the American Medical Association (AMA) and other establishment medical organizations.

These saliva tests provide consumers with a way to discover a vast array of health information, from disease genes they may carry to their ability to taste bitterness in vegetables.

The issue is not whether the FDA intends to regulate DTC genetic tests—that ship has sailed. Currently, DTC tests are regulated under laboratory guidelines known as CLIA, which have allowed for innovation but do not oversee how companies present that information to consumers. Existing Federal Trade Commission regulations already prohibit unscrupulous companies from exploiting innocent consumers. Everyone recognizes closer oversight of claims and terminology is also necessary. But there is contentious debate over what form future rules should take.

For nearly a year, the FDA has publicly stated that it considers DTC tests “medical devices,” which they propose to regulate under the Federal Food, Drug and Cosmetic Act (FDCA). Invoking that rationale, the FDA empowered its special panel to consider “the risks and benefits of making clinical genetic tests available for direct access by a consumer without the involvement of a clinician.”

The 21 panelists, while expert health clinicians and academics, were by their own admission not well-versed in the technologies, specific tests, or business models employed by DTC testing companies—none of which were represented on the panel. The panelists’ recommendation to require “doctor’s orders,” which was not submitted in writing, does not bind the FDA.

Like many consumers, I might not have opted to get the test if it meant enduring the hassle of paying extra for a physician nanny.

Last week’s regulatory fest is part of a fascinating back story of intrigue and perhaps even power-grabbing by the FDA. Just as the agency’s panel recommended restricting access, a bombshell landed on Jeffrey Shuren, its chief of medical devices. According to some scientists, a video widely circulated on the Internet last week appears to show Shuren misrepresenting the research contributions of DTC companies during testimony at a House Energy and Commerce Committee hearing last July.

In response to a question from Representative Henry Waxman (D-California) on whether personal genomics companies were contributing to innovation and increasing medical knowledge, Shuren testified that the companies were “not doing their own research on the genetic profiles,” going so far as to claim they did no research whatsoever. He then looked on passively as congressmen used his words to justify “strenuous” regulations and a complete shut-down of the fledgling industry.

‘Fourth Paradigm’ Geneticists vs. Old Guard?

But just two days before his House appearance, as the video documents, Shuren watched for half an hour as Anne Wojcicki, cofounder of personal genomics company 23andMe, detailed her startup's research efforts, which include peer-reviewed publications. Its key initiative is what scientists call “fourth paradigm” research—massive data collection that turns traditional protocol on its head by transforming disease sufferers from passive subjects into active participants in funding and finding cures.

Wojcicki’s husband, Google cofounder Sergey Brin, who provided seed money for 23andMe, carries a gene mutation linked with higher rates of Parkinson’s, a neurodegenerative disease. With funding and cooperation from the Parkinson’s Institute and the Michael J. Fox Foundation, 23andMe began collecting data on carriers of the Parkinson mutation, matching their DNA with information about their environmental exposure, lifestyle, family history, and the like.

What emerged in the case of 23andMe was a remarkable, peer-reviewed study that cut the classic research time on hypothesis-driven disease research from six years to eight months. This landed the disruptive fourth-paradigm study on the cover of Wired magazine last summer—only weeks before Shuren gave his testimony deriding 23andMe’s research accomplishments.

Considering how excitedly the 23andMe research was received by cutting-edge scientists, it’s understandable the genetics blogosphere exploded in outrage at comments by the FDA’s Jeffrey Shuren.

“Did the FDA's Jeffrey Shuren mislead a congressional hearing?” asked Wired magazine's Daniel MacArthur, a research fellow at the Welcome Trust Sanger Institute in the United Kingdom.

“The statement, for 23andMe in particular, that ‘they are not doing their own research on the genetic profiles’ is patently false," said Stanford bioinformatics professor Serafim Batzoglou.

“Clearly this is false,” said Russ Altman, also at Stanford, and chair of the Bioengineering Department. “I am reviewing [23andMe's paper] in my annual review of translational bioinformatics.”

Considering how excitedly the 23andMe research was received by cutting-edge scientists, it’s understandable the genetics blogosphere exploded in outrage at the video. It provides evidence of what numerous scientists have been claiming over the last year: namely, that Shuren was willing to twist facts in an attempt to ensure the FDA would become the sole regulatory authority over the human genome.

“If last year’s monkey trial hearings were predicated on testimony that turns out to have been anything less than cricket, then—in my mind, at least—it calls into question whether the self-righteousness of those who were doing the finger-pointing ought to be taken at face value,” wrote Duke University bioethicist Misha Angrist at GenomeBoy.

Direct-access tests are not controversial to those who have taken one. Responding to a New Year’s promotion, I ordered one from 23andMe for $149. Among many revelations, it confirmed I was a carrier of a breast cancer mutation, BRCA2, which is common among Jews. It was critical news. Now I know that I must monitor my daughter’s health and eventually get her tested and monitored, as she may very well have inherited the deadly disease mutation. That could be lifesaving information at a bargain price. And, like many consumers, I might not have opted to get the test if it meant enduring the hassle of paying extra for a physician nanny.

Large biotech companies such as Genentech that offer pricier tests have filed ‘citizen’s petitions,’ which encourage the FDA to regulate their smaller competitors out of the market. 

Personal genomics threatens entrenched interests. It pits the regulatory and medical establishment against DNA entrepreneurs, with older physicians and bureaucrats lining up against younger PhDs, MDs, and CEOs. Large biotech companies, such as Genentech, that offer proprietary tests through physicians at far higher prices than those offered by startups, have filed “citizen’s petitions,” which encourage the FDA to regulate their smaller competitors out of the market.

They are joined by the AMA, which has urged the FDA to mandate that a physician register a billing event every time patients want to view their own genomic profile. The AMA, and a few members of Congress at last summer’s hearings, suggest that consumers might, in the words of one congressman, “jump off a building” if someone finds out he or she carried a disease mutation.

Nanny Rx Redux?

Despite numerous studies, including a large peer-reviewed report just published in the New England Journal of Medicine that debunks the notion individuals have severe negative psychological reactions to their own genetic information, the AMA holds by its belief that citizens cannot be trusted with direct access to their own DNA data. In taking this stance, the AMA is out of sync with the younger, more technologically savvy MDs of the Health 2.0 movement, who believe that one way to keep health costs down is to empower patients with access to their own medical record.

We’ve been down this road before. Not too long ago, the medical establishment took the paternalistic attitude that patients with cancer should not be told about their condition. This reflexive paternalism was on display two decades ago, when government agencies began to develop sophisticated computer-generated data on the comparative surgical success rates of doctors and hospitals. Physician groups lobbied aggressively against releasing such information to patients, contending patients might overreact without doctors to interpret it for them. Consumer advocates won that battle. Today, surgical and hospital scorecards are readily available and even considered indispensable—by physicians themselves. Is history repeating itself?

In this instance, the medical establishment has an ally in the Obama administration, which is arguing for tighter regulations of medical devices to generate tax revenues to fund the healthcare legislation. American Enterprise Institute scholar and physician Scott Gottlieb has reported on the unintended consequences of the government’s plan to slap taxes on medical devices, including direct-access tests, which would have the dual effects of increasing costs and stifling innovation.

Many scientists are worried that an overaggressive FDA could strangle a revolutionary technology still in its infancy. “I do expect the industry to survive; but if the regulators have their way, it won’t be in the U.S.,” worried researcher MacArthur. “Instead, the startups and entrepreneurs that are building the technologies required for the new era of genomic medicine will quietly pack up their tools and move to Singapore and Hong Kong … People will still be buying genetic testing products; but an opportunity to build a scientifically-based, socially responsible personal genomics industry in the U.S. will be gone.”

FDA spending has doubled in the past five years, and the Obama administration has proposed an increase for the coming year. The newly elected Congress is fiercely debating whether to cut the FDA’s budget and, if so, which programs. Let’s hope Republicans and Democrats agree that Shuren’s crusade is one program that deserves the chopping block.

Jon Entine, a visiting fellow at the American Enterprise Institute, is senior fellow and director of the Genetic Literary Project at George Mason University’s Statistical Assessment Service (STATS).

FURTHER READING: Entine considered how Americans are “Scared to Death” about toxic chemicals, and said others are “Getting Fractious Over Fracking.” John Calfee explored “Drug Development in the Balance” at the FDA and uncovered “Something Old, Something New: Biotech’s Enormous Potential,” while Roger Bate discussed “Solving an Innovator’s Dilemma” on drug licensing.

Image by Rob Green/Bergman Group.

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