THE ETHICS COLUMN
Genetics 2.0: Revoking The Right Not To Know
By Jacob M. Appel, MD, JD
Laboratories conducting tests for genetic mutations related to specific medical conditions often discover incidental mutations unrelated to the initial cause for testing. For example, a physician may send a sample of a patient’s DNA to a lab to test for a mutation causing a developmental disorder and the lab might also, as a byproduct of its analysis, learn that the patient stands at risk for developing an aggressive cancer later in life. Until recently, patients retained the right to choose whether or not to be informed of such incidental findings. However, a radical decision by the American College of Medical Genetics (ACMG) last April recommended that labs have an ethical and fiduciary duty to report incidental findings for fifty-seven commonly tested mutations—whether the patients want such information or not. This approach challenges traditional notions of patient autonomy.
In theory, the incidental findings are provided to physicians, not patients, who may then decide whether to pass along the data. In practice, once such a finding becomes part of the medical record, it is unrealistic to expect doctors to withhold the information or for patients to remain in the dark for long. In other words, anyone agreeing to one form of genetic testing is essentially forced to accept a far broader range of evaluation. This all-or-none approach appears particularly problematic in that some of these fifty-seven conditions remain untreatable and manifest later in life; others display only limited penetrance, meaning some patients who possess the mutations will never develop the diseases. A perfectly reasonable individual might not want to know that he faces such an uncertain and irremediable condition. Parents might equally wish to shield such diagnoses from their children. The ACMC approach makes that choice impossible, unless the patient or family forgoes all testing.
I have written elsewhere that there may be some conditions so devastating and so treatable or preventable that all pediatric patients should be required to undergo them. One is hard-pressed, for example, to make a case against compulsory screening for phenylketonuria (PKU)—a disease both easily treatable through dietary restrictions and highly fatal without such care. Requiring universal pediatric screening offers tangible merits, albeit at the expense of familial autonomy; requiring all-or-none testing offers far fewer. Mandating such testing for adults serves as a direct affront to the now widely-accepted ethical norm that patients may control their own body tissue and drive their own care.
Supporters of complete disclosure argue that revealing incidental findings is the accepted norm in other areas of medicine. If a chest X-ray for pneumonia reveals a liver tumor at the corner of the image, any competent radiologist will report this incidental finding to the patient. Yet genetic testing is different in kind. While a patient is unlikely to skip a chest x-ray or similar routine medical procedure out of fear for a rare incidental finding, patients may well avoid genetic testing to avoid receiving unwanted knowledge. A policy intended to increase patients’ knowledge may actually scare away many individuals from all genetic studies, leaving them entirely undiagnosed. #
Jacob Appel, a physician and attorney, is a psychiatrist at Mt. Sinai Hospital in NYC.
