Researchers from the Mayo Clinic Center for Individualized Medicine presented results of three different studies evaluating implications and feasibility of genome sequencing at the just-completed ACMG Annual Clinical Genetics Meeting held in Nashville, TN. The presentations included:
- “Patients’ Views on Incidental Findings from Clinical Exome Sequencing.” The Clinic offers whole exome sequencing for patients with advanced cancers and difficult diagnoses. Among the questions clinicians and patients wrestle with is, “How much information is too much?” Researchers interviewed 44 patients about what they would and wouldn’t want to know from next-generation sequencing. Findings demonstrate that patient perspectives of risks and benefits of knowing genomic information are personal and contextual.
- “Whole Exome Sequencing of Ten Scientists: Evaluation of Process and Outcomes.” As genome sequencing technologies advance, patients will increasingly expect to have their whole exome, and eventually their whole genome, embedded in their records. In an attempt to understand the difficulties and limitations of whole exome sequencing in routine care, ten genetics scientists underwent sequencing and genomic counseling.
- “Pharmacogenomic Information in the EMR: Perspectives of Biobank Participants Invited to Participate in a Proof of Concept PGx Study.” The debate is just getting started over who will have access to genomic information and how that information will (or won’t) be protected. Researchers asked 900 participants in a pilot pharmacogenomics study to share their understanding and concerns about a pilot program embedding their personal genomic information into patient electronic medical records. From this sampling, the largest concern was whether insurance companies could have access to genomic information. Learn more about research conducted at the Mayo Clinic.
