What you need to know about home genetic testing

Melissa Partin wanted answers. She was approaching her mid-40s — about the age her mother had been when she was diagnosed with breast cancer. The diagnosis and her mother’s death two years later were shocking and somewhat mysterious; Partin’s mother hadn’t had any risk factors and no other relatives had died of the disease. Her mother never had a genetic test.

Partin began wondering if she might have a genetic mutation, so she tried to get her health insurance company to pay for a test.

“I’ve been through the process twice and had two different insurance carriers decline me,” she says.

Partin was denied because she doesn’t fit the National Comprehensive Cancer Network (NCCN) guidelines, which providers refer to when recommending patients to genetics experts for evaluation. In order for insurance companies to cover the cost of genetic testing, patients generally have to be qualified as “high risk” under the NCCN criteria.

But Partin knew a genetic test would put her mind at ease, so she found another way to get it: through Counsyl, a DNA screening company that provides home tests for everything from inherited cancers to genetic abnormalities that could lead to birth defects. Getting a genetic test can be a way for you to know more about your family history and uncover risks for certain conditions. But with all the choices, there are a few things to know first.

There’s a whole range of options when it comes to home genetic testing. Besides Counsyl, which requires a doctor’s approval, 23andMe is a popular home-based saliva test (with $99 and $199 options) that you can order with just the click of a mouse. It’s one of many direct-to-consumer (DTC) tests marketed to anyone curious about their ancestry, their risk of carrying an inherited condition like sickle cell anemia or cystic fibrosis, or learning about the best diet and lifestyle choices for someone with their DNA. Some home tests provide a comprehensive risk analysis for one condition, like breast cancer, while others, like 23andMe, are more broad.

According to the U.S. National Institutes of Health Genetics, home DNA tests may help promote awareness of genetic diseases and empower consumers to take proactive roles in their health, but anyone considering the DTC route should be aware of the risks and limitations.

Making a choice between brands may become more confusing as the industry expands: The global home genetic testing market is projected to reach $234 million by 2018.

“The field no doubt has tremendous potential,” writes Pascal Su in an article for the Yale Journal of Biology and Medicine. “However, the data…reveals that, unfortunately, the current genetic testing market can be both confusing and intrusive to customers, with misleading results and privacy issues overwhelming individual users.”

Because the entire testing process can occur without any context from the supervision of the patient’s provider, home DNA tests raise red flags for some clinicians.

“In my practice, honestly, I struggle with the role of DTC genetic tests,” says Sue Runyan, a Burlingame MD.  “There is so much nuance in both ordering the appropriate tests and interpreting the results that if my patient has a significant family history, I feel they are best guided by a genetics counselor as to which test to order and how to interpret the results.”

Consumers need to understand what each test is measuring so they can choose the right one, Runyan says. An older version of the 23andMe test looked for some BRCA gene mutations commonly linked to breast cancer, but it couldn’t reliably rule out the presence of all BRCA genes. The new 23andMe health report, which is FDA approved, looks at whether people are carriers for 36 genes linked to specific diseases.

While a genetic counselor can offer important guidance, pre-test counseling isn’t usually included with home tests. And once consumers opt in for the test, they only receive guidance after the results are in.

• If your family members haven’t been tested, your own results may not be enlightening. “If there’s a family history of cancer, it’s most informative to initially test the affected relative,” Runyan says. “If this relative is found to have a mutation, this is valuable information for other family members who can subsequently decide if they want to be screened for this specific mutation.” Runyan says in this case it’s important for consumers to make sure the test they order is screening for the familial mutation. If the relative with cancer screens negative, however, things can be tricky. “The patient’s screening test could yield an ‘uninformative negative result,‘ meaning that it’s possible a mutation exists, but it wasn’t screened for or hasn’t yet been identified.”
• You can’t be sure your private information will remain private. The Genetic Information Nondiscrimination Act of 2008 (GINA) prohibits discrimination based on genetic information for the purposes of health insurance eligibility or rates but, as Runyan points out, it doesn’t apply to life insurance, disability insurance, or long-term care insurance. “Patients should be clear about this when they’re ordering genetics testing,” she says. “Some states do have additional genetic nondiscrimination laws pertaining to this, but there’s no federal consistency,” she says. If you do a home genetic test, the results may not make their way into your official medical records. But insurance companies require you to disclose a complete health history when you’re applying for coverage. “So even if you know it and it isn’t in your file, if they find out you’ve done it, then they can use that knowledge against you at any time,” says Bob Medhekar, a One Medical doctor in San Francisco.
• There’s no federal regulation on the validity of results. DTC test companies are supposed to abide by the Clinical Laboratory Improvement Amendments (CLIA), regulatory standards that apply to all testing performed on humans in the United States. But compliance is self-enforced. “The overriding issue is that these tests are not well regulated and some may have serious quality concerns,” Runyan says. In fact, the Food and Drug Administration (FDA) issued warning letters to three DTC companies late last year (DNA4Life, DNA-CardioCheck, Inc., and Interleukin Genetics) for marketing unapproved tests. In 2013, the FDA stopped 23andMe from marketing their test over concerns that inaccurate results could spur people to have unnecessary procedures. The company modified its DNA tests and relaunched in October 2015 as the only FDA-approved consumer genomic test.

If you’re thinking about getting a genetic test, it’s a good idea to discuss all the potential pros and cons with your provider. He or she will have the best insight into your unique health profile and can offer guidance in all your decisions.

For Partin, the process was easy and her results came in two weeks.  She tested negative for an inherited breast cancer gene mutation and now has peace of mind. “I’m really, really happy I did it,” she says. “I’m now exploring options as far as what this means for my future breast health.”