Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing |
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Authors: | Tara Schmidlen Amy C. Sturm Shelly Hovick Laura Scheinfeldt J. Scott Roberts Lindsey Morr Joseph McElroy Amanda E. Toland Michael Christman Julianne M. O’Daniel Erynn S. Gordon Barbara A. Bernhardt Kelly E. Ormond Kevin Sweet |
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Affiliation: | 1.Genomic Medicine Institute,Geisinger Health System,Danville,USA;2.Coriell Institute for Medical Research,Camden,USA;3.Division of Human Genetics,Ohio State University Wexner Medical Center,Columbus,USA;4.School of Communication,Ohio State University,Columbus,USA;5.Department of Health Behavior & Health Education,University of Michigan School of Public Health,Ann Arbor,USA;6.Department of Biomedical Informatics,Center for Biostatistics,Columbus,USA;7.Department of Genetics,University of North Carolina at Chapel Hill,Chapel Hill,USA;8.Genome Medical,Monterey,USA;9.Division of Translational Medicine and Human Genetics, Perelman School of Medicine,University of Pennsylvania,Philadelphia,USA;10.Department of Genetics and Stanford Center for Biomedical Ethics,Stanford University School of Medicine,Stanford,USA |
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Abstract: | With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling practice to develop a framework of counseling components and strategies for the delivery of genomic results. This framework was constructed based upon qualitative research with patients receiving genomic counseling following online receipt of potentially actionable complex disease and pharmacogenomics reports. Consultation with a transdisciplinary group of investigators, including practicing genetic counselors, was sought to ensure broad scope and applicability of these strategies for use with any large-scale genomic testing effort. We preserve the provision of pre-test education and informed consent as established in Mendelian/single-gene disease genetic counseling practice. Following receipt of genomic results, patients are afforded the opportunity to tailor the counseling agenda by selecting the specific test results they wish to discuss, specifying questions for discussion, and indicating their preference for counseling modality. The genetic counselor uses these patient preferences to set the genomic counseling session and to personalize result communication and risk reduction recommendations. Tailored visual aids and result summary reports divide areas of risk (genetic variant, family history, lifestyle) for each disease to facilitate discussion of multiple disease risks. Post-counseling, session summary reports are actively routed to both the patient and their physician team to encourage review and follow-up. Given the breadth of genomic information potentially resulting from genomic testing, this framework is put forth as a starting point to meet the need for scalable genetic counseling services in the delivery of precision medicine. |
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