Towards The Growing Edge: Integrating Simulation In A Genetic Counseling Graduate Program

Simulation is a well-established learning practice in medical education; however, it is not well studied in genetic counseling. The current study utilizes action research to document and describe the implementation of a simulated patient (SP) program into the Joan H. Marks Graduate Program in Human Genetics curriculum. With the standards of genetic counseling training now including simulated patient encounters as participatory cases (ACGC 2019 and 2020), the utilization of SP methodology can be expected to grow. The goal of the study was to explore specific considerations of simulation in genetic counseling while meeting the standards of best practice laid out by professional simulation organizations. Over the course of the study, a model of simulation implementation was developed and over two hundred and seventy simulation sessions were implemented. Key themes of successful implementation were identified, including co-creation within the team - building as we go; developing a formative holding environment that is learner-centered; workshopping - maximizing the unique aspects of simulation; and pushing towards the growing edge while bridging theory to practice. The study contributes a thick description of implementing a simulation program with the aim of catalyzing a robust community of practice of healthcare simulation in genetic counseling education

Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative

Understanding unselected individuals’ experiences receiving genetic results through population genomic screening is critical to advancing clinical utility and improving population health. We conducted qualitative interviews with individuals who received clinically actionable genetic results via the MyCode© Genomic Screening and Counseling program. We purposively sampled cohorts to seek diversity in result-related disease risk (e.g., cancer or cardiovascular) and in personal or family history of related diseases. Transcripts were analyzed using a two-step inductive coding process of broad thematic analysis followed by in-depth coding of each theme. Four thematic domains identified across all cohorts were examined: process assessment, psychosocial response, behavioral change due to the genetic result, and family communication. Coding of 63 interviews among 60 participants revealed that participants were satisfied with the results disclosure process, initially experienced a range of positive, neutral, and negative psychological reactions to results, adjusted positively to results over time, undertook clinically indicated actions in response to results, and communicated results with relatives to whom they felt emotionally close. Our findings of generally favorable responses to receiving clinically actionable genetic results via a genomic screening program may assuage fear of patient distress in such programs and guide additional biobanks, genomic screening programs, and research studies

Lessons learned from the eMERGE Network: balancing genomics in discovery and practice

The Electronic Medical Records and Genomics (eMERGE) Network, established in 2007, is a consortium of academic and integrated health systems conducting discovery and implementation research in translational genomics. Here, we outline the history of the network, highlight major impacts and lessons learned, and present the tools and resources developed for large-scale genomic analyses and translation into a clinical setting. The network developed methods to extract phenotypes from the electronic medical record to perform genome-wide and phenome-wide association studies. Recruited cohorts were clinically sequenced off a custom panel for targeted sequencing of variants and monogenic disease risks and returned to participants to investigate the impact of return of genomic results. After generating a 105,000 participant-imputed genome-wide association study (GWAS) dataset for discovery, the network enrolled and sequenced 24,998 participants. Integration of these results into the medical record and the effects of results on participants provided key lessons to the field. These learned lessons inform genetic research in diverse populations and provide insights into the clinical impact of return and implementation of genomic medicine using the electronic medical record. The lessons produced by the eMERGE Network can be utilized by other consortia as translational genomic medicine research evolves