DIY DNA

The Pitfalls and Promise of Home Genetic Tests

By Tara Hulen

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If Walgreens had its way, crystal balls would now be for sale alongside the candy bars and cough medicine at the drugstore chain’s stores. In May, Walgreens announced that it would start selling home genetic testing kits for as little as $20, becoming the first physical store to offer the tests—although they are widely available online. But the Food and Drug Administration (FDA), responding soon after the announcement, notified testing companies that they should have sought premarket approval, and Walgreens canceled the launch.

Although the FDA’s actions have led to calls for regulation of these direct-to-consumer tests, at the moment anybody wanting one won’t have much trouble finding them online from companies such as 23andMe. It’s a fairly simple process: Customers order a kit, mail in some saliva, and then receive a report with as much detail as they are willing to pay for. Options include ancestry tests, health screenings on several levels, and pre-pregnancy screening—which is a large market, says UAB Genetic Counseling Program Director R. Lynn Holt, M.S., CGC. The reports cover possible risks for various diseases, pharmacogenetics (a person’s sensitivity to prescription drugs such as blood thinners), or carrier status for diseases such as cystic fibrosis or Tay-Sachs, which can be passed on to children.

The prospect offered by these tests is intriguing—the thrill of looking back into the past or catching a glimpse of the future—but Holt says geneticists and genetic counselors have several concerns.

1. Reports are often vague and easily misinterpreted.

“They say you’re at a ‘slightly increased’ or a ‘slightly decreased’ risk,” Holt explains. “They’re just really blanket, general overviews.”

Results showing a vaguely low or high propensity for some diseases can lead people to be either cavalier or fatalistic about their health, Holt says. “They think, ‘I’m just going to eat whatever; it’s in my genes, and there’s nothing I can do about it.’”

2. Privacy is a concern.

Questions of accountability and privacy surround the test manufacturers, Holt adds—especially after 23andMe had a major snafu this spring when it mailed results to the wrong people. The company did work to re-contact consumers who received the wrong test results, Holt notes, but the accountability of direct-to-consumer companies in these situations is unclear. It is also unclear if genetic testing completed outside the medical setting is protected by federal laws such as HIPAA (the Health Insurance Portability and Accountability Act) and GINA (the Genetic Information Nondiscrimination Act).

3. In many cases, test results are diagnostically useless.

A serious limitation of available tests is that they only check for a few genetic markers for some major diseases, Holt continues. For example, “there are over 1,000 mutations that cause cystic fibrosis,” she says. “What these companies don’t clearly tell you is that they only test for the most common genes, so you could get a negative test even though you may actually be positive. Then the question is, what do you do with it when you get it back? Can your health-care provider utilize those results in any way? Not really.”

Professional geneticists and counselors are likely to do their own tests for confirmation anyway, says UAB geneticist Nathaniel Robin, M.D. “To me it’s a half measure, at best.”

4. Putting results in context is difficult.

Another issue is that most people don’t go to a genetic counselor to discuss their results, says Robin. They are likely to turn to their primary care doctors first, and those physicians don’t have the training to translate the complex test results accurately. Robin, who teaches classes on genetics to students at UAB’s School of Medicine, says that even the above-the-norm training offered here isn’t enough.

“What I tell students is, ‘You guys will have gotten more genetic education than almost every medical student in the country, and even this leaves you ill-prepared to handle genetic testing in clinical practice,” Robin says.

The main concern shared by geneticists and genetic counselors is the lack of context provided by test manufacturers. While most companies have counselors available for phone consultations, that’s not enough when people are dealing with confusing or possibly life-changing information, Robin argues.

“It’s laudable that they provide counselors on the phone,” he says. “But it’s comical to think that that’s a substitute for sitting down with somebody who knows your family history, who knows you, or who sees your reactions. I am surprised that this is being allowed.”

Perhaps most important, a genetic counselor can put statistical risks in perspective, Holt adds. For example, if a patient is told that he or she has double the risk of a certain type of cancer, that might mean going from a 1.5 percent chance to a 3 percent chance, which is still very low, she says.

In fact, whether the tests are sought online or in a clinical setting, many people have unrealistic expectations of what their physicians can do with the results, Robin says. “Everyone thinks genetics is the answer to everything,” but, in many cases, “we’re nowhere near clinical utility,” he explains. “Genetics is only part of any medical problem: Sometimes it’s a major part, sometimes it’s a very small part—and that nuanced risk model is very hard for people to understand.”

Benefits Do Exist

There is a place for at-home genetic testing, Holt points out. It could be a good option for people living far from genetic-testing centers—which is most of the country. And in some cases, when insurance won’t cover a particular test, UAB counselors have suggested patients use some of these services—ones that are known to use reliable labs. But that is only for very specific uses, and patients still have the guidance of a professional counselor, Holt notes.

Holt and Robin say that at-home genetic testing appears to be here to stay. Once the FDA issues are settled, “it’s not going to go away,” Holt says. “The question is, how are we going to integrate this into our care package, and what are we going to do with it? There really is some very valid information that you can get from these tests. It’s just how it’s interpreted and applied—that’s where I see the gaps at this point.

“Bottom line, I think the most promising thing about this testing paradigm is that it does capture the fact that genetic information can be used to make personalized health planning,” Holt says. “I don’t know that this is the best way to do that, though—it’s a ‘buyer beware’ situation.”

Reading Between the Genes

For most people, the easiest, often more useful—and free—answer to many medical questions is simple, Robin says. “Your family history is much more indicative” of your health risks, he notes. “Our genes aren’t who we are. You can use the information to your benefit, but don’t go nuts with it. Understand what the information means; otherwise the information doesn’t do anyone any good.”

 

More Information

UAB Department of Genetics

UAB's master's degree program in genetic counseling

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