The Presidential Commission for the Study of Bioethical Issues last week issued guidance on how to disclose and manage "incidentalomas"—medical conditions that are uncovered during unrelated test that may pose a real danger, or an anxiety-producing false alarm.
These so-called incidental findings are far from incidental: Between 30% and 43% of abdominal CT scans turn up incidental findings, according to studies cited by the commission. Likewise, about 10% of brain scans detect something that requires more testing, according to panel member Stephen Hauser, a neurology chair at the University of California, San Francisco.
In certain cases, incidental findings can be life-saving—say, an athlete who undergoes a brain scan after a head injury and radiologists find a tumor, Hauser notes.
However, plenty of incidental findings turn out to be benign, or worse, have no cure. In the athlete's case, the brain scan might show signs of an early incurable condition. "[T]his young person now needs to live with the knowledge that she may someday develop this neurologic disease," Hauser says.
Ethical gray lines in research, DTC testing
Incidental findings are of escalating concern in the field of medical research and direct-to-consumer (DTC) medical testing, The Atlantic's Danielle Ofri reports.
Biomedical research often involves countless scans, tests, and procedures that are as likely to turn up incidental findings as clinical tests. However, researchers may use lower-level resolution CT scans, for example, and radiologists may only be trained to look for one thing. In these cases, it is unclear whether researchers have an ethical obligation to take action if evidence of another condition is uncovered.
In DTC medical testing, how to anticipate and plan for incidental findings has grown increasingly important with the advent of low-cost whole-genome sequencing. In the clinical setting, there are trained counselors who meet with patients when tests detect serious, heritable diseases. By contrast, it is unclear whether companies that detect such illnesses are ethically bound to make a referral for treatment, or even notify family members who may be at risk, Ofri writes.
The Reading RoomPhysicians question the ethics of commercial screening tests
In drafting its new recommendations, the bioethics panel listened to testimony from physicians, patients, researchers, and DTC companies on cases in which incidental findings led to life-saving results, and situations in which unexpected discoveries caused needless pain, fear, and added costs. Among the recommendations:
- Doctors, researchers, and DTC companies alike should inform potential patients about the possibility of incidental findings before they undergo a medical test, including what will and will not be disclosed, so that patients can make an informed decision on how to proceed;
- Professional groups should create guidelines about incidental findings common to different tests and how they should be handled;
- The government should increase spending on research into the costs, benefits, and harms of identifying, disclosing, and managing different incidental findings;
- Health care providers should meet with patients ahead of time to discuss the benefits and drawbacks of test results to agree upon what information will be shared.
Experts weigh in on a patient's right to know
The provision allowing patients to opt out of hearing their results of genetic testing goes against guidelines released earlier this year by the American College of Medical Genetics (ACMG). The group called on laboratories to notify people if tests reveal any of about 50 genes linked to two dozen diseases that are treatable—or even preventable—if discovered early on.
"When people go into these kinds of tests, you never think it's you, that you're the one that's going to have something found," says ACMG executive director Michael Watson, adding, "We didn't think they should opt out of hearing about those results prior to the test."
Stanford University's Sarah Hilgenberg, who testified before the panel, stressed the importance of patient education beforehand, so that affected patients are adequately prepared to handle the news.
As a medical student, Hilgenberg enrolled in a study involving brain scans. Although they weren't required to, researchers alerted her about an abnormality they detected, allowing her to obtain treatment for a condition that may have caused dangerous bleeding. "I would imagine it doesn't ordinarily cross people's minds," she says (Neergaard, AP/Sacramento Bee, 12/12; Ofri, The Atlantic, 12/12).