The day when a simple blood test or saliva sample can identify your risk for medical conditions ranging from cancer to Alzheimer’s disease seems tantalizingly close. But while advances in genetic testing increasingly give people critical information that may help prevent disease, genetics experts say sometimes the hype around these tests has outstripped the science. Insurers, meanwhile, generally only cover tests if there’s strong scientific evidence that it can provide a health benefit to patients.
“The utility of some tests is not as clear as we’d like to think,” says Sharon Terry, president and CEO of the Genetic Alliance, an advocacy organization aimed at promoting health through genetics. “These technologies are advancing at a really rapid rate, and they’ll make a big impact on health. But the data gathering you need to do to determine clinical utility is difficult.”
Insurers don’t cover a $99 genetic test sold directly to consumers by 23andMe that provides information about more than 240 genetic health conditions and traits that the company says can help people understand their health risks and carrier status for inherited disease, among other things. In November, the Food and Drug Administration ordered the company to stop marketing the test because the agency concluded it was a medical device and subject to FDA review and approval, which it hadn’t received. In early December, the company announced it would stop selling its health-related genetic reports while it undergoes federal review.
Insurers commonly cover many diagnostic genetic tests that are ordered by doctors, for example, tests to look for rare diseases like cystic fibrosis in infants or children. Insurers will typically also cover preventive genetic tests if the patient meets criteria based on family history or other risk factors, and if there’s an effective test with proven clinical benefit that’s recommended by a standard-setting organization like the U.S. Preventive Services Task Force.
In such cases, insurers also typically cover genetic counseling to first collect someone’s family and personal history to determine whether that patient is a candidate for a particular genetic test, and then help patients understand their results, says Rebecca Nagy, president of the National Society of Genetic Counselors.
Coverage is generally routine, but in recent years some health plans have begun paying a declining percentage of the cost of testing, says Nagy. “Companies that were covering a test at 90 percent are now covering it at 80 percent,” she says. Testing can be pricey. A genetic test for the BRCA mutations, for example, may cost $3,000 or more.
Under the Affordable Care Act, most health plans must make genetic counseling and testing available without any out-of-pocket cost to women whose family history indicates they have a higher than average risk of having mutations in the BRCA1 or BRCA2 genes that predispose women to breast and ovarian cancers. The ACA prevention coverage requirements are based on recommendations by the U.S. Preventive Services Task Force, which doesn’t recommend other preventive genetic tests.
Women frequently request genetic testing for breast cancer mutations because they believe their risk is higher than it is, say experts. This is particularly true since the actress Angelina Jolie disclosed that she had a double prophylactic mastectomy to guard against breast cancer after learning she has a mutation in the BRCA1 gene. But if a woman’s only family history of the illness is one relative who developed breast cancer at age 65, for example, that, by itself, doesn’t mean she’s at higher risk, says Nagy. With counseling, “many times we can give them reassuring numbers.”
In September, health insurer Cigna began requiring genetic counseling for members who were interested in three “commonly ordered and commonly misunderstood” genetic tests, says David Finley, the company’s national medical officer.
The tests covered by the new requirement are those for the BRCA mutations for breast and ovarian cancers, colorectal cancer and Long QT syndrome, an inherited heart condition that can cause sudden, potentially fatal heart arrhythmias.
Doctors who order these tests don’t necessarily suggest patients receive genetic counseling, even though national organizations recommend it, says Finley.
“From our perspective, the only way to make sure that patients are getting the information and taking the time that they need about these tests is to require that they see a genetic counselor,” he says.
Like other insurers, Cigna typically doesn’t cover genetic tests that don’t provide clinical benefit to the patient. "You don't test for testing's sake," says Susan Pisano, a spokesperson for America's Health Insurance Plans, a trade group.
One of the tests insurers generally don’t cover identifies which of three versions of the APOE gene someone carries. The APOE gene is associated with late-onset Alzheimer’s disease, and someone with two so-called “e4” versions of the gene is at higher risk of developing the disease.
“[The APOE test] is ordered fairly frequently, but we don’t pay for it,” says Cigna’s Finley. “It’s not enough for a test to be accurate and scientifically reliable, it has to benefit the patient. And with the APOE test I don’t think they’ve met those standards.”