Should people who volunteer for genomic studies be told about unrelated disease mutations that turn up in their sequence data? The decadeslong debate about such “incidental findings,” which can include genes that boost risk for cancer or heart disease, flared up again last week after bioethicists at the National Institutes of Health (NIH) published a study showing many participants who at first refuse those findings can change their minds. Controversially, it went on to suggest all research participants should routinely be told about their genetic risks for conditions that can be prevented or treated—a change from current practice.
Stories like this underscore why the consent material for genetic research must discuss incidental findings and record the wishes of individual participants. There must also be mechanisms for individuals to later change their minds and to reconfirm their wishes prior to communication. We have included links to two related items.
In the study, researchers re-contacted research participants in a large NIH study 1 to 3 years after they enrolled. Initially, 1.9% of participants had declined to receive incidental findings. The team reports in Genetics in Medicine that of the 83 initial refusers, 41 changed their minds and accepted after being presented with new information, including an assurance that researchers would only return results on genes that raised the risk for serious conditions that were preventable or treatable, such as cancer and heart disease. (Six participants who initially accepted the findings changed their minds and refused after being reapproached.)