According to experts, it has the potential to do both, so read this before you send in your swab or spit.

By Julia Malacoff
November 27, 2017
Photo: BlackJack3D/Getty Images

If you have a Facebook account, you've probably seen more than a few friends and relatives share the results of their Ancestry DNA tests. All you have to do is request the test, swab your cheek, send it back to the lab, and within a matter of days or weeks, you find out exactly where your ancestors were from. Pretty awesome, right? Imagine if having medical tests done were *that* easy. Well, for some tests-such as for certain types of STDs, fertility issues, cancer risks, and sleep problems-it actually is that easy. The only downside? Doctors aren't convinced that all of the tests available for at-home use are necessary, or more importantly, accurate.

It's easy to understand why people would be interested in testing themselves at home when possible. "Home tests are a product of the growing consumerization of health care, which is attracting consumers with its access, convenience, affordability, and privacy," explains Maja Zecevic, Ph.D., MPH, founder and CEO of Opionato. "For many individuals, home testing is used as a way to learn more about themselves and their health-be it out of worry or curiosity."

Lower Cost

Sometimes, at-home testing can be a solution to a cost problem. Take sleep studies, which are generally performed by a sleep medicine physician when someone is suspected to have a sleep disorder. "The benefit of at-home sleep testing is that it is much less expensive than the laboratory-based alternative," explains Neil Kline, D.O., DABSM, a representative of the American Sleep Association. Instead of paying to use lab space overnight, doctors can send their patients home with the equipment needed to perform the test, then meet with them to go over the results. These at-home tests are mainly used to diagnose sleep apnea, although new technology is being developed to test for and monitor insomnia at home, as well. This is just one example of how at-home testing really can be beneficial for both patients and doctors-providing both with the information they need at a lower cost.

One of the biggest claims at-home testing companies make is that they're making health information more accessible to consumers. Doctors agree on this point, especially when testing for smaller health issues that could become major ones in the future-like HPV, which increases a woman's risk of cervical cancer. "The biggest benefit of at-home testing is getting the tests to those women who do not have access to health care typically," notes Nieca Goldberg, M.D., medical director of the Joan H. Tisch Center for Women's Health at NYU Langone. For those who don't have insurance, at-home STD and fertility tests may offer a much more affordable option. (Related: How a Cervical Cancer Scare Made Me Take My Sexual Health More Seriously Than Ever)

User Error

Still, while at-home STI and HPV tests like uBiome's SmartJane might bring testing to those who might not otherwise get it, the testing companies themselves are careful to point out that the test is not a replacement for your yearly ob-gyn exam and pap smear. So why bother with the at-home test in the first place? Plus, there are logistical issues with offering this type of testing at home. HPV testing generally requires swabbing the cervix to get an accurate sample. "Many women do not know how to actually swab their own cervix and therefore likely won't get an accurate sample and test result," says Fiyyaz Pirani, CEO and founder of

This is one of several reasons Pirani's company doesn't offer an at-home testing option for customers. Instead, they must visit one of the more than 4,500 affiliated labs nationwide to have testing done. "Patients' homes are not equivalent to CLIA-certified labs that help ensure that the samples collected are not contaminated and are stored correctly," he says. A nonsterile testing environment could mean a less accurate test result. Plus, there's the fact that the labs they work with can often provide the patient with a test result within 24 to 48 hours-before a mail-in test would even reach the lab for testing. That means less waiting time, which can be a huge relief, especially for STD testing.

Limited Results and Feedback

Even for sleep tests-one area where at-home testing seems extremely promising-there are obvious drawbacks. "The disadvantage is that the data collected is much less," says Dr. Kline. Plus there are only a few sleep conditions that can be tested for at home. But the thing that really sets these sleep tests apart is physician involvement. Not only is a doctor ordering the appropriate test for the patient and providing specific instructions on how to perform it, but they're also around to help interpret the results.

"Home tests rely on a one-time data point that often isn't indicative of one's own biology, physiology, and/or pathology," says Zecevic. For example, at-home ovarian reserve tests, which measure certain hormones to estimate how many eggs a woman has, are popular for women trying to conceive. But a recent study published in JAMA found that having low ovarian reserves didn't reliably indicate that a woman wouldn't get pregnant. That essentially means that ovarian reserve tests provide very little information about fertility. "Fertility is a complex and multifactorial state that depends on medical history, lifestyle, family history, genetics, etc. One test cannot tell all," says Zecevic. For someone who isn't interfacing with a doctor to find out that information, these types of at-home tests can be misleading. And the same goes for other health concerns, like genetic cancer risk. "Most health conditions are much more complex than a one-time data point," she says.

Potential Side-Effects and Inaccuracies

At-home DNA testing is a bit of a can of worms, according to Keith Roach, M.D., a primary care physician and associate attending physician at NewYork-Presbyterian/Weill Cornell Medical Center. Aside from tests that are more for fun, like 23andMe's ancestry test or DNAFit's genetic fitness and diet profiles, there are also at-home tests from companies like Color that determine your genetic risk for certain diseases, like cancer, Alzheimer's, and more. Dr. Roach notes that while these tests provide mostly good information, the data banks they're using don't have the same scope and breadth of information that traditional clinical labs do to compare samples. "I doubt that there are a lot of mistakes, but I'm sure that there are some, and that's potentially problematic, because the real harm with this kind of testing has to do with the false positives and to a lesser extent, the false negatives," he explains. (Related: This Company Offers Genetic Testing for Breast Cancer at Home)

Primary care physicians sometimes become exasperated dealing with patients who have done at-home genetic testing, mainly because for many people, the tests can cause more problems than they're worth. "Some of these tests are more likely to lead to harm than to benefit because of the anxiety and the expense, and potentially the harm from follow-up testing used to prove that the initial test was a false positive," says Dr. Roach. "People come in and say, 'I have this test that was done and I've got this answer now and I'm really worried about it and I want you to help me figure this out,'" he explains. "As a clinician, you get pretty frustrated because this isn't a test you would have necessarily recommended for that patient."

Take somebody who has no family history of breast cancer, isn't in an ethnic group that's particularly at risk for it, but nonetheless, comes back with a positive BRCA mutation after completing an at-home genetic test. At this point, a doctor will generally repeat the test at their own lab to find out if the person really is positive for the mutation. If the next test disagrees, that's probably the end of it. "But if the second laboratory confirms the test result, then you need to take even a further step back and realize that regardless of a positive test result, even the very best tests can still be wrong. For someone who has no particular risk, even a positive result from a well-done test is still more likely to be a false positive than an actual positive." In other words, gathering information about your health is less about having more volume of information and more about having the *right* information.

Proactive Approach to Health

That's not to say that at-home DNA testing for genetic risks is totally useless, though. Dr. Roach knows of another physician who happened to have a DNA test done because he was doing some work for a DNA testing company, and found out that he had an elevated risk for macular degeneration, a condition that causes low or no vision. Because of this, he was able to take preventative steps to help reduce his risk and preserve his vision. "So for some people, there is potential benefit to doing these types of tests. But in general, doing clinical testing without having a good reason for it is more likely to cause harm than good."

None of this cautionary information is to say that all at-home testing is bad. "At the end of the day, any at-home testing that results in an individual finding out that they have something infectious (like an STI) is a positive impact on public health, as they can now act on that result and seek treatment," says Pirani. And while sleep, genetic, and fertility testing are less straightforward, there are still some benefits, particularly if you've discussed the appropriateness of a test with your doctor beforehand.

Overall, that's the biggest advice doctors have to consumers interested in at-home testing: "I would generally recommend a company and test only if they offer the chance to speak with a trained medical professional (preferably a doctor) once you get the results," says James Wantuck, M.D., cofounder and chief medical officer of PlushCare. So if the option to chat with a physician ahead of time is available to you, then test away.


Be the first to comment!