SALT LAKE CITY—In the mid-2000s, when Vicki Rieke’s mom was being treated for her second bout of colon cancer in a hospital out of state, doctors suggested it was time to get tested. Colon cancer can be genetic, but it is also one of the more preventable cancers. A genetic test could give Vicki and her siblings life-saving information.
As it turns out, her mom, Dianne King, did have a mutation for Lynch syndrome. The condition predisposes people to a whole host of cancers. (She passed away last month after her sixth cancer.) Her children had a 50/50 percent chance of inheriting that Lynch syndrome mutation. So when the test came back positive for Rieke, too, that news didn’t shock her. “It was kind of just not surprising with my mom’s history,” she said.
The shocker came more than 10 years later: Rieke, who is now 46, got retested, and it turns out she never had Lynch syndrome in the first place.
I met Rieke earlier this year at the Huntsman Cancer Institute in Salt Lake City, where I was shadowing doctors as they counseled patients with genetic predispositions to cancer. That’s what I expected to see, anyway, and I did. What I didn’t expect to see was doctors having to explain a baffling negative result.
(The Huntsman Cancer Institute, it should be noted, has separately been in the news because of high-level disputes about its relationship with the University of Utah.)
“I’m really kind of shocked,” Rieke kept saying during her appointment. “You know how crazy this is to think about now.” For more than a decade, she’s lived with the weight of a potentially deadly mutation. Rieke was getting regular colonoscopies to check for precancerous polyps—a standard procedure for people deemed high-risk for colon cancer. She’s never actually had a polyp. At her last checkup, her doctor also pushed for a hysterectomy because uterine cancer is another risk of Lynch syndrome. She declined—much to her relief. Oh, and she remembered: She can cancel her next colonoscopy now.
Rieke’s doctor, Jewel Samadder, thinks she was originally tested as part of a research study because it did not show up in her medical records. (Though her other doctors were somehow aware of her Lynch syndrome diagnosis. It’s been so long, no one is quite sure how.) “The problem is research labs don’t have quality assurance. They’re in their own lab with a cookbook recipe,” Sammader said. Research studies can involve hundreds if not thousands of samples, and those labs do not have the detailed sample tracking required of commercial labs. That’s why Samadder ordered up another test, this time with a commercial lab regulated by the Clinical Laboratory Improvement Amendments (CLIA). All U.S. labs that provide results for patient care must be CLIA certified.
Rieke’s situation is rare but not unheard of. Samadder mentioned another case he knows of where two brothers had their samples mixed up—the one who had a mutation thought he did not and vice versa.
These cases land in the middle of a contentious ethical debate. When scientists began enrolling volunteers for studies into the genetic causes of disease, they grappled with how to tell participants if they found a potentially deadly mutation. For the most part, scientists felt an ethical obligation to inform volunteers. Knowledge is power when it comes to preventable diseases like cancer. It makes sense why doctors would want to inform a patient about her Lynch syndrome diagnosis.
But the specific question of whether results from non-CLIA-certified research labs should be revealed remains controversial. “It’s the big one,” says Richard Fabsitz, who convened a working group at the National Heart, Lung, and Blood Institute to create guidelines for returning genetic-research results. “That’s what took us so long to write our report.” That 2010 report leaves the question unanswered.
Geneticists generally agree that research results alone should not inform medical decisions. “Only when verified in a CLIA lab should this be used in clinical care,” Gail Jarvik, a geneticist at the University of Washington, wrote in an email. The unresolved problem is who then pays for the CLIA lab test. A decade ago, when Rieke got her positive result, it might have cost hundreds or thousands of dollars. Her brother looked into getting tested at the time but decided it was too expensive. The cost has come down now, but it’s still expensive without insurance, which does not automatically cover every genetic test.
Sometimes, researchers can cobble together enough money to get patients who tested positive in the lab research retested in a CLIA-certified lab. Sometimes they reveal the result but with a disclaimer that puts the test result in a gray area. An added dilemma is that research studies are sometimes ahead of the curve compared to commercial CLIA-certified labs. Perhaps a CLIA lab doesn’t offer a test for that specific gene. Or an insurance company won’t cover it because the evidence is still nascent. After all, that’s why researchers are doing a study.
Rieke remembers being resistant to her first genetic test. “We were in our early 30s,” she said “It’s different to think about it for my kids now.” The mutation does not skip generations, so Rieke’s negative test means her kids are safe. A big part of her relief was on behalf of her kids, she said. It’s a common sentiment says Samadder, and it’s often how he persuades patients to get tested. “People often care a lot more about their kids than themselves,” he told me. “It thrilled me, thrilled my kids,” Rieke added. Her kids, now in their 20s, were not psyched about a potential lifetime of colonoscopies.
But there still is, sometimes, a lingering sense of doubt. “Do you take the first result or the second result?,” she asked. Samadder explained the difference between research and commercial labs, and why a test looking for a specific known genetic variant—in this case the one that matches her mom’s—is very unlikely to be wrong. She understands. “It’s still kind of unsettling,” she told me by phone a few weeks later. “You just hope for the best.” Her insurance company will not be covering another test for Lynch syndrome.