The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations

Abstract

As exome and genome sequencing move into clinical application, questions surround how to elicit consent and handle potential return of individual genomic results. This study analyzes nine consent forms used in NIH-funded sequencing studies. Content analysis reveals considerable heterogeneity, including in defining results that may be returned, identifying potential benefits and risks of return, protecting privacy, addressing placement of results in the medical record, and data-sharing. In response to lack of consensus, we offer recommendations.

Figure 1

Study Purpose Domains by Study ID

Figure 2. Study ID by Categories of Results and Mode of Return When Offered

*In three instances, the mode of return required two codes assigned to one “cell’.” To illustrate, in study #5, the “preventable/treatable” cell for study #5 is assigned both “results will be returned” and “participant preferences will determine whether or not the result will be returned.” In this case, “result will be returned” refers to results related to the main diagnosis that are “preventable/treatable,” while the latter refers to return of incidental findings that are also “preventable/treatable.” ¹Override. This describes instances where the consent form states that the participant has the option to choose the results returned, but then later states that the study may override the participant’s decision with respect to certain kinds of results. Study #5 notes that investigators may override participant preferences regarding non-diagnostic information when information is considered urgently medically actionable. Studies #5 and #9 also describe an override in the opposite direction, in which participants may choose certain types of non-medically actionable incidental findings yet investigators may decide not to release them.