The phrase "we've found something unexpected" is the kind of broadside a patient or research subject should never have to hear for the first time after the discovery is made. That is the overriding message of a report by a presidential panel on the ethics of "incidental findings" in medical treatment, biomedical research and commercial testing aimed at health-conscious consumers.
Before performing a scan, ordering a tissue analysis or selling a customer a screening test, the physicians, researchers and companies delivering these services should have prepared patients, research subjects and customers for the possibility of the unexpected and discussed how meaningful such findings might be. Most importantly, providers and receivers of such information should have agreed in advance whether they will be communicated, and taken steps to assure a smooth transition to what comes next.
Every time we undergo a radiological scan or submit a biological sample for genetic or tissue analysis, there lurks the potential for the discovery of something unexpected. That chance discovery of a genetic variation conferring disease risk, of a solid mass or lesion, of a bulging artery or a tangle of nerves could be life-changing in ways both welcome and unwelcome. It could give us early warning of an imminent danger to our health that is treatable or preventable, but it could also plunge us into risky, painful and expensive follow-up tests and procedures to avert a health emergency that was never going to happen.
In the land of incidental findings, it's often hard to know which road you're on.
At a time when genome analysis companies promise top-to-bottom sequencing of one's DNA for $99, when physicians order a vast panel of analyses for every blood draw, when MRI and CAT scans are often the default diagnostic test, incidental findings promise to become more common, the panel said.
A 2010 study conducted at the Mayo Clinic in Minnesota found that nearly 40% of high-tech imaging scans performed in the course of research revealed an unexpected abnormality that could be medically worrisome. Just two weeks ago, the Food and Drug Administration told the commercial genome analysis company 23andMe to stop marketing its services until it had provided "assurances it has analytically or clinically validated the [Personal Genome Service] for its intended uses."
Incidental findings are nothing new - some radiologists call the suspicious mass they detect while looking for something else an "incidentaloma." But efforts to devise systematic ways of anticipating and communicating these findings to patients, customers and research subjects are new.
In one of the first guidelines issued on the subject, the American College of Genetics and Genomics recommended in March 2013 that labs performing exome or genomic sequencing tests in support of physicians should routinely look for a welter of unrelated genetic variations that confer disease risk, and tell physicians if they've found them.
In its report issued Thursday, the Presidential Committee for the Study of Bioethical Issues said more professional societies should gather their best experts and draft guidelines as well. Those medical specialty groups, the panel added, should also catalog the types of incidental findings most often detected in the course of specific tests or scans, so that physicians can prepare their patients (and researchers prepare their research subjects) for the kinds of unexpected discoveries they might turn up. And physicians (and researchers) need to find ways to communicate clearly what such discoveries could mean - or not mean.