Operationalizing Tumor Molecular Profile Reporting in Clinical Workflows and for Translational Discovery
Rioth, Matthew John
:
2016-04-11
Abstract
Thesis under the direction of Dr. Jeremy L. Warner
The practice of oncology increasingly relies on genetic information from tumors to determine diagnosis, prognosis and therapy. These tumor molecular profiling reports are generated by clinical laboratories specializing in molecular diagnostics; however, there is no consensus on what the reports should contain, how they should be structured, or how best to transmit and present them to oncologists. This thesis outlines a framework for the data elements, file structure, transmission requirements, clinical information technology requirements and secondary use cases for molecular profiling. This framework is used as a guide to describe the implementation of tumor molecular profile reports into clinical workflows. The experience of implementing automated structured molecular profile reports from a third party laboratory into an electronic health record is described. Using file structures and data elements from the framework, molecular profile genetic data and sample metadata can be accurately parsed, restructured and aggregated for secondary uses. A system of parsing this data into a database and the use cases this database satisfies is described. This framework helps to inform clinical and translational uses of tumor molecular profiling.