Menus Subscribe Search

Follow us

Genes Are Us


(Photo: Lightspring/Shutterstock)

The FDA Is Not Anti-Genetics

• January 17, 2014 • 12:00 PM

(Photo: Lightspring/Shutterstock)

Despite the recent crackdown on 23andMe, the FDA is engaging with fast-moving biotechnology advances. However, there’s still much work to be done.

When the FDA shut down biotech company 23andMe’s direct-to-consumer Personal Genome Service, many in the biotech community worried that the FDA was risking the survival of a nascent industry that would revolutionize medical care with new genetic technologies. But lost in the story about 23andMe was the news that the FDA had just issued its very first approval for a next-generation DNA analysis machine, clearly signaling that the agency recognizes the growing significance of genetic testing in medicine.

The FDA approved a machine called the MiSeqDx, “the first FDA-regulated test system that allows laboratories to develop and validate sequencing of any part of a patient’s genome.” For a few hundred dollars, this little machine can analyze an amount of DNA in 24 hours that, 10 years ago, would have taken a dozen machines two weeks and cost nearly a million dollars. The rate of improvement in our technical capacity to read out DNA has been stunningly rapid, outpacing even the expectations of Moore’s Law, the gold standard for progress in the computer industry. Biomedical researchers can now consider ways to bring DNA analysis into the clinic that would have been impossible before. Rather than testing for mutations in one gene at a time, and in only very specific groups of patients, it’s becoming feasible to scan much larger portions of a patient’s DNA as part of a routine health assessment for everyone. What’s happening in medical genetics is the equivalent of having the operating costs of a private jet suddenly drop to those of a Honda Civic—in which case you’d probably start considering previously unthinkable destinations for not only the annual family vacation, but for three-day weekends as well.

In a report issued last fall (PDF), the FDA laid out its view of the regulatory challenges posed by personalized genetic medicine. At issue is the idea that with cheap, accessible DNA analysis, medical care can be personalized to match each person’s genetic makeup. Cancer diagnoses, rather than being based on abnormalities that are visible under a microscope, would instead be classified more effectively by their underlying genetic mutations. The typical trial-and-error approach to find the right drug for a patient suffering from depression would give way to a genetic test that would indicate the best drug.

Does the FDA need to protect you from information about your genome, especially if some of that information is potentially unreliable? Or should anyone be able to buy a tentative analysis of their genome based on the latest research?

It sounds great in principle, but the result is a major headache for the FDA, because modern genetic medicine is demolishing regulatory concepts and categories that the agency has long used to ensure that drugs and diagnostics are safe and effective.

Take genetic tests for instance. The two primary criteria the FDA uses to evaluate diagnostics are analytical validity and clinical validity. As the FDA report describes them, “analytical validity refers to how well the test measures what it is supposed to measure, whereas clinical validity looks at how well the test predicts who has or does not have a disease or condition for which it is being tested.” A typical diagnostic test is required to be both analytically and clinically valid, but for large-scale genetic tests this doesn’t make sense. Tests that analyze hundreds or thousands of regions of your DNA at once can be analytically valid—that is, they accurately determine the identity of mutations in your genome—but the clinical validity will vary with the individual mutation, depending on whether that mutation has a discernible effect. Furthermore, clinical validity for any one mutation will often be in flux, as new research clarifies the role of poorly understood mutations.

Another challenge with personalization is that a drug and a diagnostic test are more likely to be paired in their development. Some drugs, like the cystic fibrosis drug Kalydeco, are deliberately targeted only at patients with a specific mutation. Pairing genetic tests with therapeutics makes it difficult to track down the source of problems when something doesn’t work. As the FDA report notes, “An adverse event associated with the use of a therapeutic product may have arisen as a result of failure of the test to identify the optimal subset of patients due to design deficiencies, manufacturing deficiencies, or operator error.”

To respond to these challenges, the FDA report describes the changes you’d expect from a large and complex government agency tasked with keeping up with a large and complex industry. There are restructurings, efforts to increase communication and coordination among different agency centers, and committees to rethink the process by which some new treatments and diagnostics are approved.

WHILE THE FDA MAY be making an admirable effort to confront the issues raised in the report, the authors ignored the elephant in the room: the wild frontier of direct-to-consumer genetic testing, represented by 23andMe. Consumer-oriented genome services undermine one of the biggest regulatory concepts that the FDA depends on: whether or not something counts as a medical diagnostic device. Does the FDA need to protect you from information about your genome, especially if some of that information is potentially unreliable? Or should anyone be able to buy a tentative analysis of their genome based on the latest research?

This is where medical genetics shades into recreational genetics. It doesn’t help that these services are often advertised with the dubious claim that they will empower you to take your health into your own hands. As a group of researchers, physicians, and health policy experts noted in a recent commentary, “there is little evidence to support the basic premise implied by the empowerment rhetoric—namely that individuals will use genomic risk information to adopt a healthier lifestyle and, thus, reduce their risk for chronic diseases.”

Even if a personal genome analysis is not useful yet, it is hard to make the case that we should be barred from it. These services feed our curiosity about ourselves, and they are an opportunity to educate consumers about genetics. Of course our genetics are inextricably tied up with our health, which means that direct-to-consumer genetic services will always threaten to impinge on the FDA’s territory. How it should respond is an issue not yet resolved.

Michael White
Michael White is a systems biologist at the Department of Genetics and the Center for Genome Sciences and Systems Biology at the Washington University School of Medicine in St. Louis, where he studies how DNA encodes information for gene regulation. He co-founded the online science pub The Finch and Pea. Follow him on Twitter @genologos.

More From Michael White

A weekly roundup of the best of Pacific Standard and, delivered straight to your inbox.

Recent Posts

October 31 • 8:00 AM

Who Wants a Cute Congressman?

You probably do—even if you won’t admit it. In politics, looks aren’t everything, but they’re definitely something.

October 31 • 7:00 AM

Why Scientists Make Promises They Can’t Keep

A research proposal that is totally upfront about the uncertainty of the scientific process and its potential benefits might never pass governmental muster.

October 31 • 6:12 AM

The Psychology of a Horror Movie Fan

Scientists have tried to figure out the appeal of axe murderers and creepy dolls, but it mostly remains a spooky mystery.

October 31 • 4:00 AM

The Power of Third Person Plural on Support for Public Policies

Researchers find citizens react differently to policy proposals when they’re framed as impacting “people,” as opposed to “you.”

October 30 • 4:00 PM

I Should Have Told My High School Students About My Struggle With Drinking

As a teacher, my students confided in me about many harrowing aspects of their lives. I never crossed the line and shared my biggest problem with them—but now I wish I had.

October 30 • 2:00 PM

How Dark Money Got a Mining Company Everything It Wanted

An accidentally released court filing reveals how one company secretly gave money to a non-profit that helped get favorable mining legislation passed.

October 30 • 12:00 PM

The Halloween Industrial Complex

The scariest thing about Halloween might be just how seriously we take it. For this week’s holiday, Americans of all ages will spend more than $5 billion on disposable costumes and bite-size candy.

October 30 • 10:00 AM

Sky’s the Limit: The Case for Selling Air Rights

Lower taxes and debt, increased revenue for the city, and a much better use of space in already dense environments: Selling air rights and encouraging upward growth seem like no-brainers, but NIMBY resistance and philosophical barriers remain.

October 30 • 9:00 AM

Cycles of Fear and Bias in the Criminal Justice System

Exploring the psychological roots of racial disparity in U.S. prisons.

October 30 • 8:00 AM

How Do You Make a Living, Email Newsletter Writer?

Noah Davis talks to Wait But Why writer Tim Urban about the newsletter concept, the research process, and escaping “money-flushing toilet” status.

October 30 • 6:00 AM

Dreamers of the Carbon-Free Dream

Can California go full-renewable?

October 30 • 5:08 AM

We’re Not So Great at Rejecting Each Other

And it’s probably something we should work on.

October 30 • 4:00 AM

He’s Definitely a Liberal—Just Check Out His Brain Scan

New research finds political ideology can be easily determined by examining how one’s brain reacts to disgusting images.

October 29 • 4:00 PM

Should We Prosecute Climate Change Protesters Who Break the Law?

A conversation with Bristol County, Massachusetts, District Attorney Sam Sutter, who dropped steep charges against two climate change protesters.

October 29 • 2:23 PM

Innovation Geography: The Beginning of the End for Silicon Valley

Will a lack of affordable housing hinder the growth of creative start-ups?

October 29 • 2:00 PM

Trapped in the Tobacco Debt Trap

A refinance of Niagara County, New York’s tobacco bonds was good news—but for investors, not taxpayers.

October 29 • 12:00 PM

Purity and Self-Mutilation in Thailand

During the nine-day Phuket Vegetarian Festival, a group of chosen ones known as the mah song torture themselves in order to redirect bad luck and misfortune away from their communities and ensure a year of prosperity.

October 29 • 10:00 AM

Can Proposition 47 Solve California’s Problem With Mass Incarceration?

Reducing penalties for low-level felonies could be the next step in rolling back draconian sentencing laws and addressing the criminal justice system’s long legacy of racism.

October 29 • 9:00 AM

Chronic Fatigue Syndrome and the Brain

Neuroscientists find less—but potentially stronger—white matter in the brains of patients with CFS.

October 29 • 8:00 AM

America’s Bathrooms Are a Total Failure

No matter which American bathroom is crowned in this year’s America’s Best Restroom contest, it will still have a host of terrible flaws.

October 29 • 6:00 AM

Tell Us What You Really Think

In politics, are we always just looking out for No. 1?

October 29 • 4:00 AM

Racial Resentment Drives Tea Party Membership

New research finds a strong link between tea party membership and anti-black feelings.

October 28 • 4:00 PM

The New Health App on Apple’s iOS 8 Is Literally Dangerous

Design isn’t neutral. Design is a picture of inequality, of systems of power, and domination both subtle and not. Apple should know that.

Follow us

We’re Not So Great at Rejecting Each Other

And it's probably something we should work on.

Chronic Fatigue Syndrome and the Brain

Neuroscientists find less—but potentially stronger—white matter in the brains of patients with CFS.

Incumbents, Pray for Rain

Come next Tuesday, rain could push voters toward safer, more predictable candidates.

Could Economics Benefit From Computer Science Thinking?

Computational complexity could offer new insight into old ideas in biology and, yes, even the dismal science.

Politicians Really Aren’t Better Decision Makers

Politicians took part in a classic choice experiment but failed to do better than the rest of us.

The Big One

One town, Champlain, New York, was the source of nearly half the scams targeting small businesses in the United States last year. November/December 2014

Copyright © 2014 by Pacific Standard and The Miller-McCune Center for Research, Media, and Public Policy. All Rights Reserved.