Developing a Patient-Facing Report for Delivering Results After Whole Genome Sequencing
patient engagement, genome sequencing
Background/Aims: Genome sequencing is emerging into clinical practice, raising a number of issues for delivery systems. One question is how genomic results can be made available wherever the patient receives care. 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. Report development utilized providers and parents of affected patients to provide feedback on the desired report elements to maximize usability.
Methods: The research team, including a patient investigator and experts in patient engagement and communication, developed a draft report. Study participants were parents of children with undiagnosed cognitive disability undergoing genome sequencing as part of a larger clinical research study. Semistructured interviews were conducted to elicit prior experience with genetic test results and feedback about the draft report. Based on feedback, subsequent focus groups were conducted to elicit comments on specific report elements presenting inheritance and prognostic information. Recordings of interviews and focus groups were transcribed and analyzed using the conceptual framework of existential phenomenology, which favors the interpretation of meaning through subjective experiences.
Results: Participants endorsed the importance of having a report created for patients and family. In particular, they noted desire to read and re-read 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. Focus groups reviewed and ranked four different options for presenting prognostic information. Important themes for this specific information were seeing how the condition may change over time and information on support and additional action steps to take.
Discussion: Participants value a report created for them. The interview and focus group participants are informing the creation of a report that will be used in the comparative effectiveness portion of the larger project to provide actual results of whole genome sequencing.
Kulchak Rahm A, Williams JL, Fan AL, Stuckey HL, Zallen DT, Green J, Bonhag M, Feldman L, Segal M, Williams MS. Developing a Patient-Facing Report for Delivering Results After Whole Genome Sequencing. J Patient Cent Res Rev 2015;2:134. http://dx.doi.org/10.17294/2330-0698.1180