We request a supplement to our grant, Evaluating Utility and Improving Implementation of Genomic Sequencing for Pediatric Cancer Patients in the Diverse Population and Healthcare Settings of Texas: The KidsCanSeq Study, to generate comprehensive evidence of the utility of genome sequencing from the perceptions of patients and families enrolled in a Clinical Sequencing Evidence-Generating Research (CSER) consortium project. We propose to develop and refine a survey instrument measuring utility using a rigorous methodological approach to increase the maximum benefit to the scientific community. A first step will be to develop an empirically informed comprehensive conceptual framework of patient perceived utility for GS. Preliminary data from the Baylor Advanced Sequencing in Childhood Cancer Care (BASIC3) study suggests that there are dimensions of utility beyond clinical utility (e.g., psychological and pragmatic utility) that patients/families identify as important and are not necessarily captured in medical records. The comprehensive conceptual framework will be used to identify relevant dimensions of utility that will be further explored through in-depth interviews with patients and parents of minor patients who have received genomic sequencing results across CSER sites. This work will be used to develop and refine an item pool that will be tested among experts as well as patients who have received GS results in a CSER study. Finally, the item pool will be used to conduct validation and assess the psychometric properties of the instrument in follow up time points with CSER participants. The results of this supplement project will contribute much needed empirical data on patients' and parents' perceived utility across different domains and clinical contexts, as well as the development of an innovative, multidimensional utility instrument that will be a significant contribution to the genomics literature and will be directly applicable to translational research and economic evaluation of genomic and precision medicine.
This study is designed to generate comprehensive empirical data on the multiple dimensions of utility of genome sequencing across differing clinical contexts. These data will be used to develop and test a methodologically rigorous survey instrument that will assess patients? perceived utility of genome sequencing. This will be a novel instrument that will be useful to genomic and precision medicine studies.
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