Developing a patient facing genome sequencing report: Results of Key Informant Interviews. J. L. Williams1, A. Fan1, H. Stuckey2, D. Zallen3, J. Green1, M. Bonhag1, L. Feldman4, M. Segal4, M. S. Williams1 1) Genomic Medicine, Geisinger Health System, Danville, PA; 2) Department of Medicine, Penn State Hershey College of Medicine, Hershey, PA; 3) Department of Science and Technology in Society, Virginia Tech, Blacksburg, VA; 4) SimulConsult, Inc., Chestnut Hill, MA.
Background: Genome sequencing is emerging into clinical practice raising a number of potential issues for delivery systems. One example is that germline genomic data differs from other patient data in that it retains relevance for the individuals health over the entire lifespan. Given the current fragmented state of the delivery system this raises the question of how this information can be made available wherever the patient is receiving care. Indeed the individual is the only constant in the changing delivery landscape. This has led to exploration of care centered around the patient and their caregivers. The purpose of this research is to develop a patient facing genomic laboratory report with advanced functionality including point of care education and clinical decision support. Development will use providers and parents of affected patients to provide feedback on the desired elements for the provider and patient views and the usability of the report. Methods: A draft patient report was developed by the research team. The team includes a patient investigator and several experts in patient engagement and communication. The draft report was then presented to participants in a clinical research project exploring the use of genome sequencing for undiagnosed cognitive disability. Semi-structured interviews were used to elicit prior experience with genetic test result communication and feedback about the draft report. Interviews were transcribed and analyzed using the conceptual framework of existential phenomenology which favors the interpretation of meaning through subjective experiences. Results: Participants have endorsed the importance of having a report created for patients and family. In particular they noted that this allowed reading and re-reading of the report and to have a record of what was discussed. The draft report was found to be informative and written at an appropriate level. Different diagrams were presented and were judged to be helpful to understanding the report content. A consistent deficiency in the draft report from the participant perspective was a section on what to expect for the future. Conclusions: Participants value a report created for them. The results of the interviews will inform creation of a report that will be evaluated by a larger number of participants using focus groups. The final patient report will be used in the comparative effectiveness portion of the project.
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