LAUSR

The successful integration of genomic medicine into clinical practice will require genetic professionals to reevaluate clinical standards that might have been appropriate when the numbers of individuals pursuing genomic sequencing were low, but may not be feasible on a larger scale. One such practice is the expectation that patients and research participants meet with a genetic counselor prior to pursuing genomic evaluation. Anticipating a time when genomic sequencing is an integral element of medical care, this expectation may be incompatible with counselor availability and patient interest in genetic counseling services.1,2 As part of the Return of Actionable Variants Empirical (RAVE) study, which is examining disclosure of results from targeted genomic sequencing of a panel of medically relevant genes, we are examining patients’ interest in elective genetic counseling. The RAVE study will evaluate 109 genes, including the 59 genes identified as medically actionable by the American College of Medical Genetics and Genomics, in approximately 3,000 individuals. Actionable results will be disclosed to patients by a genetic professional and placed in their electronic health record. In contrast to standard approaches to genomic sequencing, participants in the RAVE study were not required to receive pretest genetic counseling. Instead, genetic counseling was offered on an optional, no-cost basis to those individuals who expressed an interest. During the recruitment process, which occurred from 18 March 2016 to 29 April 2016, an invitation was mailed to all potential volunteers. This invitation included a 4-page informational pamphlet, a 2-page “frequently asked questions” document, and a 14-page consent form describing the study. These materials were developed by our genetic counseling team and included standard elements of a pretest genetic counseling session. These materials discussed how individuals were selected to participate in RAVE, why the study is being done, what participation requires, who has access to health information, what kinds of genetic test results will be generated, how participants will receive genetic test results, why someone would want to participate, what privacy protections are in place, potential implications for family members, and who to contact with questions about the study. Each of these recruitment documents also mentioned the availability of elective genetic counseling services, which was framed in a neutral way that neither encouraged nor discouraged their use. For example, the informational pamphlet noted: