Is genetic testing right for you?

A healthcare professional tests samples out of plastic test tubes on a counter filled with lab equipment.

Changes in a person’s DNA can offer important clues about medical risks for developing certain cancers, cardiovascular disease and other health conditions. It’s also possible that parents can pass certain disorders onto their children.

As genetic testing for such risks surges in popularity, what do consumers need to know — and who should get tested? DNA plays such a critical role in a person’s health that after accounting for individual behaviors, genetics is the second largest influencer of premature death, according to the Kaiser Family Foundation.

“The contribution of genetic changes to health is really grossly underestimated,” says Dr. Robert Nussbaum, Chief Medical Officer of Invitae Corporation.

But while the genetic testing industry has nearly doubled over the last 10 years, understanding what test to take — and how to interpret the results — can be confusing. Not all direct-to-consumer genetic testing companies provide scientifically supportable tests, for example, and not all tests are covered by health insurance.

“Family history and genetics play an important role in our overall health, including improving health outcomes or preventing possible disease,” says Joanne Armstrong, M.D., MPH, Vice President and Chief Medical Officer, Women's Health and Genomics for CVS Health. “But the direct-to-consumer genetic testing products available today may provide inaccurate, incomplete or misleading results.”

The good news, says Dr. Nussbaum, is that in-depth genetic testing, paired with appropriate genetic counseling, can provide opportunities for personalized prevention and treatment.

A healthcare provider shows a female patient a tablet with medical imaging data.
Knowing if you carry the gene for breast cancer allows you to start cancer screenings earlier or pursue surgical strategies for prevention and treatment.

A guide to good health

The gap in reliable and affordable genetic testing prompted CVS Health to launch its Guided Genetic Health (GGH) product in 2021. A new offering in 2022 for eligible members of CVS Health’s Transform Oncology Care program and its Aetna Commercial Enhanced Maternity Program provides clinical-grade genetic testing through Invitae, as well as pre- and post-genetic counseling through InformedDNA to help consumers make informed decisions about their health.

“Genetics testing for the right reason in the right person at the right time can make an important contribution to health” says Armstrong. “Genetics informed care can improve health outcomes through prevention, risk reduction, and/or targeted treatments.”

For example, a woman who carries the BRCA1 or BRCA2 mutation (or both) can have up to a 72% risk of being diagnosed with breast cancer during their lifetimes. For that reason, Armstrong notes that women who have this gene may consult their health care provider to start cancer screenings earlier or pursue surgical strategies for both prevention and treatment.

Genetic counselors are highly trained, board-certified genetics specialists who can help consumers navigate the complex road of testing and treatment options, says Rebecca Sutphen, M.D., FACMGG, co-founder and chief medical officer of InformedDNA.

“Genetic testing is taking a journey to understand your inherited health risk, but it’s not a journey that you should navigate alone,” Dr. Sutphen says. “Talking with a genetics expert is like using a GPS that ensures you get to the right destination with the right information as quickly and safely as possible.”

CVS Health’s GGH offering additionally aims to address both cost and privacy issues that prevent many consumers from seeking testing, says Armstrong.

“We are bringing the best clinical grade experience we can to our members with an accessible, convenient and low-cost environment while ensuring privacy around sensitive health information,” Armstrong says.

To that end, the GGH program is designed so that neither CVS Health nor Aetna receives the test results and, unlike some direct-to-consumer testing laboratories, test information is never sold or made available to third parties.

All in the family

While a family history of certain diseases is one indicator of genetic risks, not everyone has access to generations of comprehensive family data, says Dr. Nussbaum.

In addition, some genetic conditions only occur when a person carries two genes — one from each parent. That means that both parents can carry and pass down a defective gene to their children without ever knowing they carry that gene.

“A lack of a family history doesn’t mean there isn't a hereditary condition in the family,” he says.

Currently, most genetic carrier testing occurs when a couple is already expecting a child, says Nussbaum. The issue with this timing is that if the couple finds out that their expected child could be at risk, the options for what to do about that risk are limited.

“The couple would need invasive prenatal diagnosis and, if the pregnancy is affected, the couple basically has to decide whether to continue the pregnancy or not,” he says.

For couples who do carrier testing before they conceive, however, a wider range of options is available, including sperm donation, egg donation and adoption, Nussbaum adds.

While discovering genetic risks can be stressful, Nussbaum says the information is ultimately empowering for patients.

“There can be an initial period of shock for people who are at risk,” he says. “But in the long haul, what most patients say is: ‘I'm glad I had the information because I could use it to protect my health.’”