The Molecular Biology CORE at the Clínic Barcelona’s Biomedical Diagnostic Centre (CDB) has incorporated the NovaSeq X Plus sequencing system, the most advanced on the market and the one with the highest capacity. The Clínic is the first hospital in Catalonia to have this new technology, which represents a step forward in the deployment of personalized medicine in the hospital.
Massive DNA sequencing has allowed us to improve our knowledge of the influence of genes on health, diseases and the response to treatments. Its application in clinical practice is key to ensuring that a growing number of patients can benefit from more accurate diagnoses and targeted therapies.
According to Dr Aurea Mira, former director of the Biomedical Diagnostic Centre, “the Biomedical Diagnostic Centre’s strategy is focused on deploying personalized medicine in clinical care. The incorporation of the sequencer reinforces this strategic commitment, allowing us to offer innovative solutions adapted to the Hospital’s current and future needs".
Dr Miguel Ángel Benitez, manager of the Biomedical Diagnostic Centre, says that, “implementing diagnoses based on the analysis of large volumes of genomic data is a challenge for laboratories, both due to the high cost of the techniques and to the need for a high-level bioinformatics infrastructure. With this new equipment and the computational infrastructure in the Operational Area, we shall be able to optimize resources and respond to these challenges”.
The NovaSeq X Plus sequencing system from Illumina is the most sophisticated equipment currently available in the field of short-read NGS sequencing, since it maximizes the speed, performance and accuracy of the sequencing process. Compared with previous models, this equipment reduces the environmental impact by 60%, minimizes waste by up to 90%, and eliminates the need to use dry ice or cold accumulators for transporting reagents.
An automated laboratory for genetic diagnostics: the Molecular Biology CORE
The Molecular Biology CORE centralizes the massive sequencing equipment within the Hospital. Since its creation, it has progressively incorporated increasingly sophisticated sequencing technologies to meet the needs of the Biomedical Diagnostic Centre’s specialized services.
It is a highly automated laboratory specializing in the analysis of samples for genetic diagnosis and using robotic platforms to streamline key processes, such as the extraction of genetic material, Sanger sequencing and part of the massive sequencing. This automation allows a large number of samples to be analysed more quickly, efficiently and accurately.
Knowledge about clinically relevant genetic and genomic information has increased considerably in recent years. This has made it increasingly necessary to analyse a larger number of genes in order to obtain more accurate diagnoses. “Providing the Operational Area with this sequencer represents a significant advance since, for example, it allows us to consolidate whole exome analysis as the main strategy for diagnosing diseases with a heterogeneous genetic basis, such as the diagnosis of hereditary cancer, neurological diseases or heart disease, etc. Moreover, it positions us to integrate the study of the complete genome into healthcare practice and to be a leader in advanced molecular diagnostics”, stresses Dr Joan Anton Puig, head of the Molecular Biology Operational Area.
This focus on innovation and sustainability reinforces the Hospital Clínic’s commitment to excellence in diagnostics, improving the quality of care and contributing to a more efficient and environmentally responsible form of medicine.
