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Curious about your cancer risk, or if your child might develop learning disabilities? There’s a genetic test for that—but it may not be accurate

July 29, 2023
in Business
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Curious about your cancer risk, or if your child might develop learning disabilities? There’s a genetic test for that—but it may not be accurate
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Have a health question? These days, there’s probably a genetic test for that.

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. 

How’s a patient to smartly navigate the muddy waters of convenient—but confusing—consumer genetics? The key, according to experts: being educated.

‘Be a savvy 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,” Dr. Christine Eng, professor of molecular and human genetics at the Baylor College of Medicine in Houston, Texas, tells Fortune.

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 predisposes 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,” Eng advises.

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,” Brianne Kirkpatrick, medical communications manager at testing giant 23andMe and licensed genetic counselor, tells Fortune. 

“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, she 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.

Here are five actions Eng, Kirkpatrick, and other experts say consumers should take when shopping for genetic tests.

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, Kirkpatrick says, though a small handful have received marketing authorization from the U.S. Food and Drug Administration. 

If the lab a test is performed at have received certification under CLIA—the Clinical Laboratory Improvement Act in 1967—or accreditation under CAP—the College of American Pathologists—”these are very strong indicators that it’s going to be a quality lab that’s giving results, that, from a technical point of view, can be relied on,” Eng says.

2. Compare what you’re aiming to learn with what the test you’re considering 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. But the tests may have not been designed to deliver clinically accurate results, and the information they provide may be misleading or incomplete, multiple experts tell Fortune. 

They urge those with concerns about their genetic cancer risk, perhaps due to family history, to have a conversation with their primary care provider or geneticist to ensure they’re receiving accurate, comprehensive information—and that they’re not operating with a false sense of comfort.

3. Partner with a genetic counselor to interpret your results. If you have questions about the accuracy or implications of your results, one of the best types of professionals to turn to is a genetic counselor, Kirkpatrick says. Geneticists, who work with genetic counselors and help interpret complex genetic results for patients, are usually difficult to schedule with, often backed up months, if not over a year. Some direct-to-consumer genetic tests, however, offer access to genetic counselors, in relatively short order.

If you’re comparing two tests, and one offers access to a genetic counselor and the other doesn’t, that may be a good deciding factor, she advises. If not, there are independent genetic counseling companies that offer telegenetics services online, she adds.

4. Realize you have a right to your reports and even raw data. “Definitely a copy of the report is a good thing to have, especially if you see many different physicians,” Eng says. “Unfortunately, patients with genetic issues tend to have conditions where they need to see several different specialists, so having a copy of that information is always powerful.”

5. Understand that scientific knowledge can, and does, evolve—constantly. Scientists are making continuous headway in the field of genetics, connecting new variations with diseases. A genetic change that a lab labels as uncertain may later be declared benign or even disease-causing. If you’re informed that you have a genetic change of uncertain significance, periodically check back with your physician, genetic counselor, or the company’s lab to see if your variant has been reclassified, she advises.

Adds Kirkpatrick: “If you only look once and never look again, you may miss out on new insights revealed.”

She offers another tip—this one for those who don’t receive the answers they’re (perhaps desperately) seeking: Hold out hope.

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

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