Integration and interoperability of consent, access rules and ontologies for eHealth and genomic information

Abstract

The effective management of consent and access rules is a fundamental challenge in eHealth and genomic research, where interoperability among diverse data systems and standards is critical. This master's thesis, titled "Integration and interoperability of consent, access rules, and ontologies for eHealth and genomic information," seeks to address these challenges by examining and enhancing the integration of various health information standards and specifications such as FHIR, GA4GH, and ODRL. The report documents the initial progress made, including the development of a structured GA4GH consent format in JSON and the application of the GA4GH Machine Readable Consent Toolkit for transforming policy clauses into machine-readable formats. These advancements are part of a broader effort to assess how well current standards facilitate or hinder interoperability and to propose solutions for more seamless integration. Preliminary findings indicate significant gaps in the current frameworks, particularly in their ability to communicate and enforce consent across systems and borders. The work conducted so far highlights the potential for standardized, machine-readable consent formats to enhance data sharing and protection practices. The forthcoming phases of the thesis will delve deeper into these issues, aiming to propose robust frameworks that can be universally adopted to improve the consistency and efficiency of data handling in global health and genomic research. This research is expected to contribute valuable insights and practical solutions to the ongoing challenges of managing sensitive health information in a technologically interconnected world.