National Human Genome Research Institute, Doris Duke Charitable Foundation, National Health Service Blood and Transplant, National Institute for Health Research, and Wellcome Trust.

Background Although the integration of whole genome sequencing (WGS) into standard medical practice is rapidly becoming feasible, physicians may be unprepared to use it. Methods Primary care physicians (PCPs) and cardiologists enrolled in a randomized clinical trial of WGS received genomics education before completing semi-structured interviews. Themes about preparedness were identified in transcripts through team-based consensus-coding. Results Data from eleven PCPs and nine cardiologists suggested that physicians enrolled in the trial primarily to prepare themselves for widespread use of WGS in the future. PCPs were concerned about their general genomic knowledge, while cardiologists were concerned about how to interpret specific types of results and secondary findings. Both cohorts anticipated preparing extensively before disclosing results to patients by using educational resources with which they were already familiar, and both cohorts anticipated making referrals to genetics specialists as needed. A lack of laboratory guidance, time pressures, and a lack of standards contributed to feeling unprepared. Discussion Physicians had specialty-specific concerns about their preparedness to use WGS. Findings identify specific policy changes that could help physicians feel more prepared, and highlight how providers of all types will need to become familiar with interpreting WGS results. Clinical Trials Registration ClinicalTrials.gov # NCT01736566.

This investigation analysed the kinds of communicative acts that are considered privacy-invading, which communication strategies are used to restore privacy when it has been violated and how relationship type affects communication of privacy. A preliminary self-report survey and a pilot study employing open-ended interviews (n=43) led to the development of a questionnaire in which respondents (n=444) rated 39 possible actions on invasiveness and rated the likelihood of using 40 different tactics to restore privacy. Types of privacy violations formed five dimensions: (1) psychological and informational violations, (2) non-verbal interactional violations, (3) verbal interactional violations, (4) physical violations and (5) impersonal violations. Strategies used to restore privacy included: (1) interaction control, (2) dyadic intimacy, (3) negative arousal, (4) distancing, (5) blocking and (6) confrontation. Significant differences emerged across doctor-patient, employeremployee, teacher-student, parent-child, spouse-spouse and siblingsibling relationships.

Despite the increased utilization of genome and exome sequencing, little is known about the actual content and process of informed consent for sequencing. We addressed this by interviewing 29 genetic counselors and research coordinators experienced in obtaining informed consent for sequencing in research and clinical settings. Interviews focused on the process and content of informed consent; patients/participants’ common questions, concerns and misperceptions; and challenges to obtaining informed consent. Content analysis of transcribed interviews revealed that the main challenges to obtaining consent related to the broad scope and uncertainty of results, and patient/ participants’ unrealistic expectations about the likely number and utility of results. Interviewees modified their approach to sessions according to contextual issues surrounding the indication for testing, type of patient, and timing of testing. With experience, most interviewees structured sessions to place less emphasis on standard elements in the consent form and technological aspects of sequencing. They instead focused on addressing misperceptions and helping patients/participants develop realistic expectations about the types and implications of possible results, including secondary findings. These findings suggest that informed consent sessions should focus on key issues that may be misunderstood by patients/participants. Future research should address the extent to which various stakeholders agree on key elements of informed consent.