Implementing new Next Generation Sequencing (NGS) technologies in cancer aids informed clinical decisions and targeted therapies. However, accurately interpreting genomic alterations in tumors remains a challenge for broad clinical implementation. While many cancer mutations with relevance in cancer treatment have been annotated in the past decades, the impact of most mutations is still unknown. This underscores the need for advanced systems capable of systematising the interpretation of genomic data to assist and improve cancer diagnostics and treatment. These systems must be self-explainable for clinicians and patient-centric.
CGI-Clinics is a community-driven project that aims to enhance cancer mutation interpretation within European healthcare systems. The project develops a professional Cancer Genome Interpreter (CGI), a bioinformatics tool to systematise tumor genome interpretation for clinical decision-making, enabling doctors to choose effective treatments while ensuring data is safe and interoperable for research. The CGI tool uses data-driven methodologies to interpret known mutations and variants of unknown significance (VUS), and is being adapted as a clinical decision-support tool, while keeping the data safe, structured, and interoperable for its re-used in research.
The tool includes expert meetings for oncologists to discuss CGI-generated mutation interpretation and biomarker reports, and it is patient-centric, promoting knowledge exchange and facilitating treatment management. The consortium, comprising 17 European organizations, tackles the challenge of interpreting cancer mutations and emphasizes the value of data sharing for future cancer research.
