Genetic tests can determine cancer risk and the likelihood of learning disabilities, but their accuracy may be questionable.

Genetic tests can determine cancer risk and the likelihood of learning disabilities, but their accuracy may be questionable.

The Expanding Landscape of Consumer Genetic Testing: Navigating the Maze

Glimpsing your risk of developing common chronic conditions like type 2 diabetes, cancer, and Parkinson’s Disease is as easy as snagging a relatively inexpensive at-home testing kit, swabbing your cheek, chucking the box in the mail, and waiting.

The direct-to-consumer genetic testing movement started small, with a lone U.K. firm in the late ’90s promising data on how one’s genes affected their metabolism. Since then, the industry has globalized, bypassing doctors and aiming straight for curious and worried consumers—to the tune of $1.56 billion last year. It’s expected to grow by nearly 25% annually, according to a 2023 report.

Now, a new wave of expanded genetics tests are flooding the market—social media feeds, at least—and complicating matters. Some promise to predict the gender of your baby, your child’s predisposition to learning disabilities, how specific medications might interact with your genetics, and even how prone you are to developing ear wax (not kidding).

Not all information provided by such tests is useful or accurate. And not all of the accurate information can be acted upon, experts caution—often, disease can’t be prevented.

The Importance of Being an Educated Consumer

“Getting people comfortable with genetics and learning about it, and how it might impact themselves and their families, I think that’s all a good thing,” says Dr. Christine Eng, professor of molecular and human genetics at the Baylor College of Medicine in Houston, Texas.

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Key among the facts savvy genetic-testing consumers should know: The answers you receive—say, that you don’t carry a particular mutation that predisposes you to a disease—don’t necessarily mean you’re free and in the clear. There may be multiple genetic factors that predispose one to a condition, as is the case with Alzheimer’s disease and breast cancer.

“If you get a negative test back, you may think you’re completely risk-free for that condition, when, in fact, you didn’t get a comprehensive-enough test,” advises Eng.

Another tip: If a test is promising clear-cut answers on a complex trait—say, whether or not your child will develop learning disabilities—“go with skepticism,” says Brianne Kirkpatrick, medical communications manager at testing giant 23andMe and licensed genetic counselor.

“Be a savvy consumer in the sense that if a claim sounds too good to be true, it probably is.”

Most human traits are the result of both genetic and environmental influences, meaning that not every medical question can be answered succinctly by a genetic test, Kirkpatrick cautions. For example, while genes can contribute to one’s risk of developing a learning disability, so can poor growth in utero, low birthweight, trauma, and exposure to high levels of toxins like lead.

Navigating Consumer Genetic Testing

To help consumers navigate the muddy waters of consumer genetics and make informed decisions, here are five key actions recommended by experts:

1. See if the lab that performs the test you’re interested in has industry certifications. There is no regulatory oversight for most genetic tests, says Kirkpatrick, though a small handful have received marketing authorization from the U.S. Food and Drug Administration. Look for labs that have received certification under CLIA (Clinical Laboratory Improvement Act) or accreditation under CAP (College of American Pathologists)—these are strong indicators of a reliable lab that can provide accurate results.

2. Compare what you’re aiming to learn with what the test claims to do. Some ancestry-type tests offer to report on one’s risk of developing chronic and potentially fatal diseases like cancer and kidney disease. However, the tests may not be designed to deliver clinically accurate results, and the information they provide may be misleading or incomplete. It is crucial to consult with a primary care provider or geneticist to ensure that you receive accurate and comprehensive information.

3. Partner with a genetic counselor to interpret your results. If you have questions about the accuracy or implications of your results, it is recommended to consult with a genetic counselor. Geneticists, who work with genetic counselors and help interpret complex genetic results for patients, may be difficult to schedule with. However, some direct-to-consumer genetic tests offer access to genetic counselors in a relatively short order. Consider the availability of genetic counseling services when comparing different tests.

4. Realize you have a right to your reports and even raw data. Keeping a copy of the report is important, especially if you see multiple physicians. Patients with genetic issues often need to see several different specialists, so having the information readily available is valuable. Having access to your reports ensures that you can provide it to healthcare professionals when necessary.

5. Understand that scientific knowledge is constantly evolving. Scientists are continuously making progress in the field of genetics, connecting new variations with diseases. A genetic change that a lab labels as uncertain may later be reclassified as benign or even disease-causing. If you are informed that you have a genetic change of uncertain significance, periodically check back with your physician, genetic counselor, or the company’s lab to stay updated on any reclassifications.

Looking Ahead

Genetic testing has the potential to provide valuable insights into an individual’s health and predisposition to certain conditions. While the field is rapidly expanding, it is crucial for consumers to approach genetic testing with caution and to be aware of its limitations. Being an educated consumer is key to navigating the world of consumer genetics and making informed decisions about personal health.

As Dr. Eng says, “It’s quite possible that the answer you’re looking for can be found in a genetic test. Maybe in the future it will be, if it’s not today.”