How do direct-to-consumer genetic health risk tests work?

Want to take more control of your well-being? Direct-to-consumer genetic testing is one way to better understand your health. These simple, at-home tests use DNA to provide information about your ancestry and risk for certain diseases.

But there are drawbacks, including growing concerns about privacy. Here’s what to know.

How at-home genetic tests work

At-home genetic tests start with collection of a DNA sample, which holds your gene information. Typically, this involves taking a small amount of saliva, placing it in a tube, and then mailing that tube to a lab. (Some tests require a blood draw.)

At the lab, your saliva will be tested for certain genetic variants. Variants are parts in your DNA that make you different from other people. Their presence or absence help determine your risk for many health conditions. There are hundreds of thousands of variants, but at-home tests can only look for some of them.

Once your test is processed, you’ll receive the results via website, app, mail or phone call. The results will usually come with explanations of how certain variants may affect your health and risk for disease.

It’s important to understand: At-home genetic tests are not diagnostic. They don’t tell you whether you have a disease, only if you’re at increased risk. Many other factors affect disease risk, including your environment and lifestyle. These tests are meant to provide information as a piece of a larger picture.

Among the conditions you can learn more about:

• Parkinson’s disease, a progressive disorder of the nervous system that affects movement
• Celiac disease, an illness caused by an immune reaction to gluten in the small intestine
• Late-onset Alzheimer’s disease, a brain disorder that causes problems with memory, thinking, and behavior
• BRCA1/BRCA2, specific genetic variants that may increase the risk for breast, ovarian, prostate, and other cancers
• Hereditary hemochromatosis, a condition in which too much iron builds up in the body, rising to potentially toxic levels

These tests aren’t perfect, and there is a risk of false positives. A false positive suggests you’re at higher risk for a disease, when you’re actually not.

Availability of at-home genetic tests

In April 2017, the United States Food and Drug Administration (FDA) authorized 23andMe, a genetic testing service, to release Personal Genome Service Genetic Health Risk (GHR) tests. It was the first time the FDA approved a direct-to-consumer test for genetic predisposition to different health conditions. Since then, 23andMe filed for bankruptcy but there are many other companies that have started to offer genetic testing at home, for a wider variety of health risks.

Many people opt for at-home genetic health testing because they feel it gives them more control over their health. They may also want to keep some health concerns private from insurance carriers and others. But in recent years, these tests have come under fire for their own privacy issues.

For one thing, it’s not always clear what companies do with the genetic information they collect. Federal government regulation and oversight is spotty, and laws can vary widely from state to state. You may not have control over how your data is used. For example, there are instances of law enforcement using genetic information to help solve crimes—which people may not have approved or been made aware.

What’s more, if a testing company goes out of business, there are major questions surrounding what happens to the genetic data. Once you’ve submitted a test and received results, there’s no way to take them back.

Data breaches are also a significant risk. Nearly 7 million people had their information compromised in 2023 when hackers broke into 23andMe databases. About 14,000 accounts were accessed, according to reports.

How to choose a genetic testing company

It’s important to do your homework before picking a genetic testing company. It could save you time, money, and stress. These tips can help you narrow down your choices.

• Check to make sure the company has a secure website and/or app. Is it clear to you what kind of data you’ll receive?
• Try to find a sample report to review. Make sure you know which genetic variations are being tested and why. The results should include an explanation that’s easy to understand.
• Who’s on staff? Are they professionals with experience in genetics and medicine? If you have questions about your results, what is the testing company’s consultation process? What’s the best way to get in touch with them? How quickly can you expect answers? Your healthcare provider (HCP) may also offer guidance.
• Make sure you understand the cost and ensure there are no hidden fees.
• Find out what labs the company uses to process tests. Check whether they’re located in the U.S. or another country, and whether they’re certified or accredited.
• Learn how the company will protect your private data now and in the future and if they plan to share it for other purposes.
• Read all of the details in the terms of use or terms of service section.

Learning about your disease risk can be stressful. So can getting false positives, or other information you may not fully understand. It can cause you to worry unnecessarily and even tempt you to take action.

It’s critical, however, to never make any medical decisions based on results from at-home genetic testing. Talk to an HCP first. They can help interpret results and guide you in the right direction. Consider speaking with a genetic counselor about your questions or concerns, as well.