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Almost anyone carries a genetic variant in his/her DNA that is of immediate relevance for the prescription of drugs they may receive. Still, this information is not widely used, not even for individuals who have been genotyped or sequenced in the context of large cohort studies, direct-to-consumer-testing or genetic counseling. Here we propose to launch and evaluate the Personal Locker for genetic data, a safe environment and infrastructure where individuals can store, view, and interpret their personal genetic data, and provide access to the care providers and researchers of their choice. In this project, we work with existing patient portals and data infrastructures and investigate how they can be integrated into the Personal Genetic Locker. In this process, we address aspects of security, interoperability, user-friendliness and acceptability, in co-creation with possible target groups and relevant stakeholders. We evaluate the Personal Genetic Locker in three concrete user scenarios, including patients and various health professionals, such as general practitioners, medical specialists, pharmacists and researchers. Doing this, we provide a proof-of-concept for the utility of Personal Genetic Lockers in health care and research. We demonstrate its impact on the personalization of drug treatments and the awareness of pharmacogenomic information with the general public and health professionals. Concrete results from this project include a reference architecture and a working prototype of the Personal Genetic Locker, a list of technical and user requirements, and a set of recommendations for optimizing the use and utility of health-related personal lockers.
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