Are research scientists obliged to have a radiologist thoroughly evaluate each scan? Are they obliged to use the high-level resolution scans on par with those in the clinical world? These technicalities may seem like hair-splitting, but they could be prohibitive enough to cancel a research study.
And what happens when an incidental finding is noted? Are researchers responsible for obtaining medical care for the volunteer? Are they financially responsible for such care? Can there be any malpractice implications, especially for researchers who are also MDs?
The situation gets even murkier when it comes to direct-to-consumer (DTC) medical testing. The development that has brought these ethical controversies to the forefront is the advent of low-cost whole-genome sequencing. In the past, sequencing an entire genome was a laborious, expensive endeavor that was limited to major research labs. Now, companies have sprung up to offer personal sequencing. Just send a bit of saliva and $99—shipping and handling included!—and you, too, can have the entire contents of your DNA laid out like a take-out menu.
At first glance, this sounds straightforward. But it isn’t. What should be done if the test discovers a gene for a serious, heritable illness ? In the clinical setting, there is a trained genetic counselor to work with a patient and the results, but with direct-to-consumer testing, a person is largely on their own. Does the company have an ethical obligation to make a referral for treatment? To inform family members who might also be at risk? What happens if the results show a chromosomal sex that is different than the person’s known sex? What happens if testing reveals parental lineage that isn’t what was expected? And what happens if the tests are wrong?
The bioethics commission listened to testimonies from doctors, patients, researchers, and DTC companies. They heard cases in which incidental findings led to life-saving results, and cases in which incidental findings led to unnecessary pain, fear, and cost.
The main conclusion of the commission was that incidental findings aren’t incidental at all. Some are so prevalent that they should be anticipated. Not that any one doctor could anticipate any one incidental finding on any given patient, but that all patients, research subjects, and DTC consumers should be routinely warned of incidental findings. Standard consent forms should emphasize that incidental findings are the norm and should be expected.
If doctors, researchers, and DTC companies have a plan in place to deal with incidental findings, they won't have to scramble when it happens—which is what happened with my patient and me. Our incidental finding felt like an unexpected clinical bomb that elbowed everything else to a second tier.
The final report published by the commission, released today, is entitled “Anticipate and Communicate,” and offers suggestions for how to prepare for incidental findings, including discussing the risks and benefits with patients, and including information about the possibilities of incidental findings within standard consent forms.
Before I presented to this commission, I’d viewed incidental findings as minor annoyances that pop up every so often. Now I think of them as part and parcel of everyday medicine. Whenever I send a patient for CT or MRI, I mention the possibility of unexpected findings. And although the term “incidental findings” has a charming ring to it—zingy enough for me to have chosen it as a book title some years back—I’ve decided that I will retire the phrase. Findings are findings—whether you sought them or not. Once you have a finding on your hands, it’s only how you ended up there that is incidental.