D7.2 Integration of NGS and clinical data

D24 is the first in a series of three closely related deliverables planned for CAN.HEAL WP7, which will be released in rapid succession. WP7 established four clinical pilots focused on non-small cell lung cancer (NSCLC), colorectal cancer (CRC), luminal A type breast cancer (LumA), and hematological malignancies (HM). This approach aims to maximize the capture not only of individual cancer risk, but also familial predisposition or precursor states of overt hematological malignancies. Our work introduces two key novelties: (1) the use of six different biotechnological platforms (and their combined application to test germline DNA, tumor DNA and circulating tumor DNA); (2) an innovative data generation and sharing plan designed to identify unmet needs in EU healthcare. This deliverable reports the successful collection of all clinical and next-generation sequencing (NGS) data, along with preliminary analyses. Key achievements include: (1) a shared electronic case report form (eCRF) and data collection scheme encompassing both clinical and NGS data; (2) Harmonized patient recruitment criteria; (3) Consensus NGS/digital PCR (dPCR) testing platforms; (4) Expanded testing options; (5) Shared evaluation metrics; (6) Open access to expertise within the large CAN.HEAL expert network; (7) A developing dataset of integrated clinical and molecular data; (8) Opportunities for policy implementation across EU Member States (MS). Integrating clinical and NGS data within the collaborative CAN.HEAL framework has yielded valuable lessons in several areas: (a) Harmonization of ethical approval and informed consent procedures; (b) Streamlines data collection and sharing; (c) More efficient resource utilization (avoiding duplication of efforts); (d) A broader range of profiling options for all EU citizens (reducing disparities and promoting equity); and (e) Improved diagnostic and theranostic counseling.