Genetic tests are a standard part of modern medicine these days, but there was a time, not that long ago, when many patients would avoid them — even ones that could help save their lives. People worried that the test results could one day be used against them by their employer or by health insurance companies to deny coverage or increase rates.
That changed in 2008, with the passage of a law designed to reassure Americans that the results of genetic testing couldn’t be used to make them (or their relatives) uninsurable or unemployable. The protections of the Genetic Information Nondiscrimination Act (GINA) meant health professionals could confidently reassure patients that taking a genetic test would not expose them to new risks. It helped such tests become mainstream.
This isn’t supposed to be a partisan issue — GINA passed unanimously in the Senate and by a vote of 414–1 in the House. But today, the Republican effort to eliminate the Affordable Care Act could expose a loophole in GINA’s design and bring back serious concerns about genetic tests among patients.
Earlier this month, the 5th Circuit Court of Appeals heard arguments in Texas v. United States, a case filed by a group of Republican governors and attorneys general that seeks to overturn the ACA. Crucially, the Department of Justice under the Trump administration has decided not to defend the ACA, and the result could be the courts striking down all or part of the law — including the provision that protects people with preexisting conditions.
That’s where the problem with genetic testing comes in. GINA is meant to protect people from being discriminated against because of a genetic predisposition or susceptibility. Once someone gets sick, they are treated no differently than anyone else with a disease or condition. For example, GINA protects a person with a BRCA mutation from being discriminated against, even though they have an increased lifetime risk of breast and ovarian cancer. But its protections do not extend to individuals with breast cancer. The term that GINA uses to describe this distinction is “manifest disease”: The law does not stop insurers from basing insurance eligibility, coverage, or premiums on evidence of “manifest disease.”
But it’s hard to draw a clear line between a “genetic susceptibility” and “manifest disease.” When does a genetic condition cease to be a risk and start being a reality? Is it when you begin treatment? Carriers of a pathogenic breast cancer susceptibility gene are advised to start routine surveillance in their mid-twenties — medical care they only qualify for because they have something called Hereditary Breast and Ovarian Cancer syndrome — that is, the “disease” of carrying the gene. They may never get breast or ovarian cancer. But if they do, will their insurance company agree to cover their care?
Other examples go beyond surveillance. Is it when you develop symptoms? Benign polyps are treated differently if you have Lynch syndrome, a genetic predisposition to colon cancer. Management of your heart disease risk is different if you have a gene for familial hypercholesterolemia. Aggressive therapies are a part of how we use genetic information for prevention and treatment of disease — they are a part of our grand plan for precision medicine. But if you’re treating a symptom — even if that symptom is currently harmless — does that mean it is “manifest”?
Initially it appeared this GINA gray area was going to have to get hammered out in the courts or through regulations. But with the passage of the ACA, the issue was suddenly moot in the insurance realm. Health insurance companies could not discriminate against you for what was in your genes because of GINA, and they could not reject you if you became sick because of the preexisting condition clause in the ACA. Taken together, the protection against genetic discrimination and health status was a complete package.
Now, just as suddenly, the package may come undone. But the difference between 2008 and today is that the genetic testing industry is now thriving, thanks in part to GINA. In 2008, there were fewer than 10,000 genetic tests available; today there are over 75,000. In cardiology, obstetrics, pediatrics, oncology, neurology, and elsewhere, genetic testing has become a part of routine medical care. The stakes are far higher than they were a decade ago.
For years, medical professionals have been telling patients and their families that they should not be afraid that genetic testing will impact their insurance premiums or eligibility. If the ACA’s preexisting conditions clause is ruled invalid — or the entirety of the law, as seems more and more possible — those protections may be collateral damage.
In this age of effective and widespread genetic testing, we don’t want people to turn down the tests because they fear a positive result will be used against them. But thanks to the ongoing effort to kill the ACA, insurance companies may be given a loophole to do just that.
Laura Hercher is the director of research at the Sarah Lawrence College Joan H. Marks Graduate Program in Human Genetics and host of the podcast The Beagle Has Landed.
Anya Prince is associate professor of law at the University of Iowa College of Law and a member of the University of Iowa Genetics Cluster.