You are a research subject. You have agreed to provide a DNA sample for a medical study. The study's consent form gives you two choices: A) The researchers keep your name and contact information on file and inform you if they come across serious health concerns in your genome; or B) The researchers will not inform you of any of your results. Which do you choose?
You are a researcher. While analyzing a research subject's genome sequence, you discover a variant that strongly suggests the subject will develop a life-threatening but preventable condition. However, on their consent form the subject specifically requested not to be informed of any results. What do you do?
You are a patient. Your doctor recommends clinical whole genome sequencing in order to screen for any genetic red flags related to a few conditions that run in your family. Your doctor informs you that there is a possibility of "incidental findings," or results not related to the conditions being screened for. The predictive value of some of these results may not be well understood; other results could suggest serious health threats which you can do nothing about. Your doctor asks: Are there any results you would rather not be informed of?
You are a doctor. You ordered clinical whole genome sequencing for a patient who requested not to be informed about any incidental findings that suggest a serious health risk for which there is no medical intervention. The results include one such risk. Although the patient specifically asked not to be informed of this, you also see several members of the patient's family, and you know that this result could affect them. What do you do?
Returning genomic test results and incidental findings is not as simple as just handing them off to a patient or a research subject. These examples only scratch the surface of the complex challenges faced by everyone from researchers and institutional review boards to the parents of children receiving clinical genomic testing. The basic dilemmas are not unique to genomic information; many researchers have wondered whether they should offer to return individual results to participants, and as Marc Williams (p. 13) points out, "incidental findings are an inherent part of medical practice." But while the dilemmas may be familiar, the scale is not. The enormity of information unearthed in whole genome sequencing is unprecedented, and as it begins to play an increasingly important role in human research and medicine, questions of how to handle results will become increasingly pressing. The genomic era is coming fast; now is the time to set precedents.
Samuel W. Anderson is Editor of GeneWatch.