New Molecular Diagnosis Laboratory (Girona)
The Trueta Hospital and the Santa Caterina Hospital put into operation a new Molecular Diagnostic Laboratory with state-of-the-art sequencing technology.
The Hospital Universitari de Girona Doctor Josep Trueta and the Hospital San-ta Caterina have launched a new Molecular Diagnosis Laboratory. The new device, integrated into the Territorial Clinical Laboratory, occupies an area of 500 m2 and incorporates state-of-the-art sequencing technology. In this way, with the collaboration of the Daniel Bravo Andreu Private Foundation, the Girona Health Region now has cutting-edge facilities that must allow a qualitative leap in the field of precision medicine.

Personalized medicine or precision medicine is a discipline that, based on the genetic study of an individual, seeks the preventive, diagnostic or therapeutic treatment most adjusted to the genomic characteristics of each person. The fields of application of clinical genomics are the detection of hereditary cardio-vascular diseases, the treatment of cancer, pharmacogenetics, neurodegenerative diseases or fetal medicine, among others. Thus, the aim of this new device is to offer patients and their families more precise genetic diagnosis and more adjusted treatments to improve the prognosis of their disease and their quality of life.
The technology acquired with the support of the Daniel Bravo Andreu Private Foundation improves the traceability of the analysed samples, automates the processes of preparation of gene libraries to be sequenced, offers much more speed, greater capacity for analysis and greater versatility of studies, and reduces working time and, therefore, response time. All this, complemented with a computer platform capable of processing and storing large volumes of infor-mation in the minimum time, since the use of massive sequencing techniques will increase up to a hundred times the generation of raw data in relation to genetic studies done so far.
The new Molecular Diagnosis Laboratory has a multidisciplinary team made up of biologists, bioinformatics, biotechnologists, laboratory technicians, pathologists, genetic advisors and geneticists, who offer support to clinical professionals from Trueta and Santa Caterina hospitals and the rest of the demarcation centres, both in the selection of the necessary genetic study and in the advice and decision-making towards the patient and their family. It is expected that, thanks to the infrastructure deployed and the networking with the specialists of the territory, this team of professionals will double the genetic determinations made to patients in the demarcation over the next five years.
Since 2015, the Cardiovascular Genetics Laboratory of Trueta and Santa Ca-terina hospitals has been the reference laboratory for the diagnosis of heredi-tary cardiovascular diseases for the entire Health System of Catalonia. The ex-perience acquired and the rapid evolution of genetic sequencing technology – which allows the study of hundreds of genes at once in a time and at a much lower cost than only a decade ago – have made it possible to take this important step forward in order to improve the quality of care offered to patients in the Gi-rona Health Region.
The Daniel Bravo Andreu Private Foundation has also made possible ten stays in prestigious hospitals in precision medicine in Europe and the United States. With this practical training program in clinical genomics, variants interpretation and genetic counselling, doctors from various services of Trueta and Santa Caterina are expected to become engines of change towards the new para-digm of medicine of the 21st century: personalized medicine. Thus, profes-sionals from the services of Neurology, Pathological Anatomy, Obstetrics, Medical Oncology, Haematology, Paediatrics, Pharmacy and Laboratory will be able to acquire advanced knowledge in leading institutions and return to their hospitals with a unique and unique background.
To complete this project, on June 15, 2023, the Catalan Institute of Health, the Institute of Health Assistance and the Catalan Institute of Oncology organized the 1st Conference of Clinical Genomics and Personalized Medicine of the Girona Health Region. With the motto “Personalized Medicine for Life”, this first edition aimed to make an introduction to the field of clinical genomics to understand the possibilities offered by this discipline and how the way patients are caring for is changing. The conference also revealed the applications of genetics in the study and diagnosis of cardiovascular, oncological, neurological or psychiatric diseases. Finally, social and ethical challenges that precision medicine can generate were discussed.
The conference, aimed at all those in the health field linked to or interested in the field of genomic medicine, brought together more than 170 professionals at the Girona Conference Centre.