Within the activities carried out through the National Competence Centre in Cancer (CNCC), the Oncological Institute “Prof. Dr. Ion Chiricuță” Cluj-Napoca (IOCN) has developed an integrated genomic testing hub aimed at implementing personalised medicine and improving oncological patient management. The initiative seeks to integrate advanced molecular profiling into clinical practice, ensuring that therapeutic decisions are grounded not only in the clinical and histopathological characteristics of the tumour, but also in the genetic and genomic profile of each individual patient.
The genomic hub brings together modern next-generation sequencing (NGS) technologies, bioinformatics analysis infrastructure, standardised operating protocols, and the integration of molecular results into the clinical decision-making process, supporting the implementation of precision medicine, in which genomic testing becomes an essential tool for diagnosis, treatment selection, and disease monitoring.
Implemented testing workflows
Complete workflows for germline and somatic genetic testing were implemented and validated within the project, including:
- Automated DNA and RNA isolation processes
- Quality control of genetic material
- Sequencing library preparation (NGS)
- Bioinformatics analysis and standardised reporting of results
These activities contributed to improving the robustness, reproducibility, and traceability of genomic analyses conducted at the institute.
Germline and somatic genetic testing
Dedicated genetic panels were implemented to assess hereditary predisposition to cancer, used primarily for patients with breast and ovarian cancer, enabling identification of pathogenic variants associated with genetic disease risk.
In parallel, comprehensive tumour genomic testing capability was developed through the implementation of OncoDEEP testing, one of the most extensive molecular characterisation platforms available internationally. This approach enables simultaneous analysis of 638 DNA genes and 22 RNA transcripts, as well as identification of relevant molecular biomarkers (HRD, TMB, MSI) for selecting targeted therapies, immunotherapies, and clinical trials.
The Genexus™ platform
To reduce the time required to obtain molecular results, particularly in pulmonary pathology, a fully automated genomic testing line was implemented based on the Genexus™ platform, enabling rapid and standardised characterisation of the tumour molecular profile through the analysis of a panel of 40 genes of clinical interest (Oncomine™ Dx Express Test).
Molecular Tumour Board (MTB)
A central element of this initiative is the integration of genomic results within the Molecular Tumour Board (MTB), a multidisciplinary structure bringing together oncologists, pathologists, geneticists, molecular biologists, and bioinformaticians. In these meetings, clinical, histopathological, and molecular data are analysed collectively to identify the most appropriate therapeutic options and to support personalised medical decisions.
By integrating clinical and genomic information, the Molecular Tumour Board facilitates identification of personalised therapies and increases patient access to innovative treatments and clinical trials.
Impact and outlook
Through the development of this genomic hub, IOCN is contributing to the transformation of personalised medicine from an innovative concept into applied clinical practice. Advanced genomic testing enables identification of patients eligible for targeted therapies, optimisation of therapeutic strategies, and improved management of complex oncological cases.
The genomic testing hub developed within CNCC represents an essential component of Romania’s precision medicine infrastructure and an important step towards the systematic integration of molecular data into modern oncological patient management.
