It’s All Fun and Games Until Someone Loses Their DNA: Genetic Testing, Privacy, and Medical Research

genetic privacy

Want to know exactly what South American country your distant ancestors hailed from? Whether you really do have a gluten sensitivity? What about whether or not you have the gene variants that could pass cystic fibrosis to your unborn child? You’re in luck—there’s a genetic testing kit for that. But besides giving you answers to your most burning genetic questions, what else are these genetic testing companies doing with your DNA? The results might surprise you.

Genetic testing companies have blossomed over the last few years; however, recent events have brought customers’ privacy concerns into the spotlight. Customers give these companies permission—via a release agreement—to use their genetic information for biomedical research. However,  the language surrounding those agreements can range from obfuscatory to exploitative. If these companies and researchers better communicate how they manage people’s private (genetic) information and focus on a more holistic testing pattern, then these massive gene banks could prove invaluable to biomedical research.

Genetic Testing: Finding the Culprit

 Although the commercials might be new and numerous, we’ve been genetically testing humans for over 40 years now. Perhaps we could track genetic testing back to the early 1920s when scientists identified blood types. Maybe we could even go back to antiquity to the simple genetic “looking” strategy—“Oh, you have your grandmother’s nose and your great-great-uncle’s chin.” The use of DNA to understand genetic relations and healthcare risks, however, gained momentum in the early 1980s with the introduction of restriction fragment length polymorphism (RFLP) analysis.

More recently, genetic testing may hold the promise of encouraging healthier aging. One company, for example, will tell you how long your telomeres are. Others will inform you of your genetic risk for age-related macular degeneration, lung disease, and even late-onset Alzheimer’s disease. This, however, is another double-edged sword. It’s obviously useful for a smoker to understand their genetic risk for lung disease—they can always improve their outlook by quitting smoking. But how useful is it for someone to know they have a gene variant implicated in Alzheimer’s—a disease for which there is no known prevention or cure? Does that knowledge cause more harm than good?

It’s All Fun and Games Until Someone Loses Their DNA

Today, we predominantly see DNA testing in one of two scenarios: in medicine or in forensic science. In popular crime shows like CSI, DNA acts as a breadcrumb. The good guys are meant to find a suspect’s DNA and exploit it, while the bad guys should make sure to never lose their DNA or give it up. A similar relationship arises when consumers use genetic testing companies like Ancestry.com and 23andMe.

In the biomedical world, DNA has taken another form—this time acting like a Platonic search for knowledge. For the ancient philosopher Plato, the process of learning was actually one of recalling. In other words, we possess all possible knowledge when we’re born, and we spend our entire lives rediscovering this information. Genetic testing today follows a similar logic.

Genetic testing companies promise to unveil the secrets of your genome. Send them your saliva, and they’ll send you knowledge that your physical body has possessed for your entire life. When customers participate in these genetic tests, they usually hope to determine their heritage or their health risks. Many users participate in genetic testing out of lighthearted curiosity or “just for the fun of it.” And that makes sense. Who wouldn’t want to know where their families come from? But a problem arises when this “just for fun” process involves keeping and selling customers’ genetic codes to third-party businesses for research.

23andUs: The Privacy Controversy

Nearly a month ago, the genetic testing giant 23andMe signed an agreement with “big pharma” giant GlaxoSmithKline (GSK). This proposed four-year collaboration would allow GSK to purchase and utilize 23andMe’s genetic data in order to develop new drugs. But when 23andMe customers found out about agreement, controversy ensued. Why?

Although nearly 80% of 23andMe users agree to have their results used for biomedical research, many of them didn’t actually understand what that agreement entailed. Like Henrietta Lacks’ immortal cells, these genetic donors would never receive compensation for the drugs that their genetic information helped produce. Customers may think that they’re paying companies like 23andMe to interpret what their DNA says about their health and ancestry, but that’s only the proverbial bait. In the case of 23andMe, customers actually pay the company about $99 to analyze, store, and sell their genetic data (if they know it or not).

The situation is very similar to the recent and ongoing Facebook controversy, where the tech giant sells users on “making connections” when in reality, those potential connections are simply an enticement for users to give up their personal data, which is then sold for profit to third parties.

How Researchers Can Ethically Utilize Genetic Testing

It’s not all bad news though. As some have been quick to point out, collaborations like the one between 23andMe and GSK could prove extremely beneficial if they’re done correctly. Here are some ways that researchers and companies could mitigate privacy concerns and conduct more inclusive research.

Be Transparent.

 Even though we live in the era of dense terms and conditions, customers are far less likely to be outraged by easily understandable agreements. Many research studies and companies use a lot of jargon to (intentionally or unintentionally) coerce users into agreeing to a certain arrangement. This process might increase initial buy-in, but the long-term effects will come back to bite them—especially when the company’s understanding of the contract doesn’t align with public perception.

The National Institute of Health’s (NIH) All of Us project provides an excellent example of how to be transparent about participants’ privacy. The All of Us project aims to aggregate data from a million Americans for the benefit of medical research. Their informed consent process actually informs the customer about the agreement with extremely digestible content. Other research teams (and companies for that matter) should look to this project to learn how proper preparation up front lessens the need for crisis communication later.

Widen Your Sample Parameters.

There’s only a limited demographic that will spend $99 on genetic testing. Even if every person who read the privacy contract completely understood it, the genetic data would by no means encapsulate the diversity of the U.S.—let alone the diversity of the human species. We’ve long known that the middle and upper classes are dominant consumers for healthcare technologies, treatments, and screenings. The “pay-to-play” dynamics of 23andMe therefore fill any possible genetic database with a disastrous amount of selection bias.

In order to bolster the reach and relevance of a genetic database and its potential findings, companies should attempt to incorporate lower socioeconomic classes. For example, companies could subsidize prices for lower income people to encourage the development of a more representative sample.

Give Back to the Community.

Good science and good business can have a complicated relationship. In theory, biomedical researchers using a genetic database should attempt to do objective and representative science. However, paying to participate immediately skews the validity of such a dataset. In a utopic world, 23andMe would freely provide genetic testing for all those who wanted it. Similarly, GSK would use that data to provide low-cost pharmaceuticals to the masses. In reality, however, both 23andMe and GSK work for profit. And too much emphasis on the bottom line can lead to some shady science.

While we can’t ask companies to become charities, we can demand that they become more charitable. Companies should incentivize participation in large-scale studies. If genetic medicine is the next big thing, research should seriously focus on the “public good.”

Privacy, Genetic Testing, and Me

The problems surrounding genetic testing, privacy, and the development of new pharmaceuticals will likely continue for some time. We might not know all of the answers just yet. But researchers, companies, and policy makers can learn from consumers’ outrage with 23andMe. This is not the end of genetic testing. Hopefully, it’s a turning point instead–one that ultimately leads us to better and more ethical research.

PHOTOGRAPH BY ROBIN HAMMOND, NATIONAL GEOGRAPHIC