The collection and interpretation of genetic data have not been fully standardized. This means that patients cannot optimally benefit from the wealth of genetic data available for diagnosis and personalization of treatment. ZonMw granted an ambitious project to promote large scale (re)use of all human genomic data in research and healthcare by implementing the FAIR principles for genomics data, i.e. to improve Findability, Accessibility, Interoperability, and Reusability of genetic data.The project will consider the needs of different stakeholders (including patient/ participant, laboratory staff, clinicians, bioinformaticians, researchers) and address ethical, legal and societal issues. The project is directed by prof. Morris Swertz and dr.ir. Salome Scholtens from the University Medical Center Groningen, with involvement of Radboudumc’s Center for Molecular and Biomolecular Informatics (CMBI), Department of Human Genetics, and the Radboud Technology Center Data Stewardship.
Peter-Bram ’t Hoen, theme Nanomedicine, further explains that the project will deliver standard operating procedures and best practices for the capture of genetic data, metadata (data about the data, such as the sequencing and analysis protocols) and provenance (who produced the data and what are the conditions under which the data may be (re)used). He further stresses that the “A” in FAIR does not stand for “freely accessible to anyone”. The conditions under which the data will be made available for reuse will need to guarantee the privacy of patients and have to be in line with the General Data Protection Regulation (GDPR). In the project, Radboudumc will be mainly concentrating on harmonization and removal of ambiguity of the data. The meaning of the data should be clear for researchers, clinicians or even computers, irrespective of the center where the data were generated.
The project was funded through ZonMW’s programs Personalized Medicine and Goed Gebruik Geneesmiddelen (effective use of medicine). All university medical centers in the Netherlands participate, but also stakeholders from patient organizations and professional societies such as the Vereniging Klinische Genetica Nederland and the Nederlandse Vereniging voor Pathologie.
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