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Secondary Genetic Findings: Do You Want to Know?

Mayo Clinic biomedical ethicist Richard Sharp, Ph.D.
Mayo Clinic biomedical ethicist Richard Sharp, Ph.D.

Genomics is a field of medicine that is rapidly growing and developing. The details of a person's genome may provide clues or sometimes direct answers that lead to treatment and improved care. As a result, this improved, individualized care is also changing the patient experience. Patients are faced with a wealth of information that appears intimidating, to say

the least; genetic testing does not always provide clear answers, and can sometimes provide patients with secondary findings, or answers they were not expecting. Richard Sharp, Ph.D., director of the Biomedical Ethics Program at the Mayo Clinic Center for Individualized Medicine, explains secondary findings from an ethical point of view in order to bring a more confident understanding of this aspect of genetic testing to patients.

What are secondary findings?

Whether as part of a research study or regular patient care, secondary findings are results from a genetic test revealing medical information that is unrelated to the original reason the test was performed.

If a doctor makes secondary findings on a genetic test, does he or she have to tell the patient?

Only if the findings have clear implications for the patient’s health, according to Dr. Sharp. Physicians are bound by ethical code to report to patients any clinically meaningful or actionable results, including secondary results. But in many cases, there is too little scientific evidence to assign medical meaning to a specific genetic variation that appears on a test. “A huge proportion of the [secondary] results that actually come back are non-interpretable or will have an ambiguous meaning,” says Dr. Sharp. Because such results do not have clear clinical significance, physicians are not obliged to report them to patients, he says.

To avoid confusion for doctors and patients, the American College of Medical Genetics (ACMG) maintains a list of genes that should be reported to patients if they appear on a genetic test. Researchers understand the consequences of these genes well enough to act on them in a clinical setting; and therefore, the ACMG suggests that they are necessary to report.

What if a patient does not want to know about any secondary results?

Patients have a right not to know about discoveries unrelated to the purpose of the test, even if the secondary findings are considered clinically meaningful or actionable, says Dr. Sharp. Before the genetic testing takes place, a patient should tell their doctor how much information they want to receive about secondary findings. The doctor is obliged to respect the wishes of the patient. “There are circumstances where you make an arrangement with a patient [about not receiving certain results]. In those cases, you don’t talk about that aspect of the results,” says Dr. Sharp.

How can patients prepare for the possibility of secondary results?

Whether or not a patient chooses to receive any secondary results, this aspect of genetic testing can cause anxiety and stress. For this reason, Mayo Clinic requires patients to receive genetic counseling before and after genetic tests are performed. Dr. Sharp stresses the role of certified genetic counselors, who can help patients make more informed decisions about how much information to receive, or not to receive, about secondary findings. “Raising those questions and thinking about those possibilities in advance is really important,” he says. “We all manage uncertainty in different ways.”

What if secondary findings on a patient’s genetic test might affect someone else, like a family member?

Generally, a physician is only ethically responsible to the individual patient that he or she is currently caring for. Therefore, a doctor would not be obliged report any secondary results to a family member of his or her patient, says Dr. Sharp. If genetic testing results could be relevant to someone beyond the patient, such as a biological relative, the physician’s obligation to that patient may include a responsibility to counsel the patient about the importance of sharing genetic testing results with the affected persons. It is up to the patient, however, to decide how and whether to share that information.

July 20, 2015