Regulation of the secondary and incidental findings in genetic testing: from the clinical domain to the European Health Data Space
DOI:
https://doi.org/10.1344/rbd2025.63.47664Keywords:
genetic testing, secondary findings, incidental findings, data protection, GDPR, European Health Data Space, geneticsAbstract
The development and availability of high-performance omics technologies, such as whole exome sequencing (WES) and whole genome sequencing (WGS), bring new ethical and legal challenges. In this policy review, we address the challenges related to managing potentially clinically relevant secondary and incidental findings unrelated to the primary indication of genetic testing. With the aim of providing clarity on the applicable legislation to these findings and to enable collective foresight, planning and management of them, we analyse two fundamental legal frameworks: the sectoral legislation - health and biomedical research - applicable to genetic testing and the personal data protection legislation. The main result of this analysis provides a table showing the different approaches to be taken to manage these findings depending on whether they are secondary or incidental, and whether they are generated in clinical or research contexts, including secondary uses of data such as the European Health Data Space.
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