The Hereditary Cancer Unit of the Medical Oncology Department at Vall d’Hebron University Hospital and the Hereditary Cancer Genetics Group at the Vall d’Hebron Institute of Oncology (VHIO), led by Dr. Judith Balmaña, presented key advances in personalized medicine at the 5th Interdisciplinary Congress on Human Genetics, held from April 15 to 17 in Granada, with a total of four oral presentations and three posters.
Among the most notable works is the CANGUR project, led by Estela Carrasco, which received an award for one of the best posters at the congress. The project proposes incorporating pediatric cancer predisposition genes into neonatal screening programs. This initiative establishes a national consensus framework to move towards early detection from birth in cases where there is a clear opportunity for clinical intervention.
The teams have also led pioneering large-scale data integration initiatives, such as the XHECAT platform, presented by Júlia Reig, which brings together information from more than 61,000 families and 1.5 million individuals in Catalonia. This enables improved genetic diagnosis, optimized clinical care, and the promotion of collaborative research in hereditary cancer. Another initiative is the nationwide CRECE-SEOM Registry, currently comprising over 6,000 records of individuals with a pathogenic variant in a hereditary cancer gene, presented by Víctor González, central coordinator of the project.
New precision medicine tools
In the field of precision medicine, the studies presented show how the incorporation of new tools is transforming diagnosis and prevention. On the one hand, the use of polygenic risk scores allows for more accurate estimation of breast cancer risk and the adaptation of screening strategies on an individual basis. On the other hand, advances in genetic testing show that up to 20% of recent diagnoses are already made through new pathways, such as tumor sequencing or incidental findings, identifying patients outside traditional criteria. These studies were presented by Anna Moreno and Adrià López, data curator and genetic counselor of the Hereditary Cancer Unit.
Additionally, results from work carried out within the European PREVENTABLE consortium demonstrate the clinical and economic impact of genetic diagnosis in rare syndromes such as hereditary leiomyomatosis and renal cancer, enabling early tumor detection and reducing healthcare costs through more efficient prevention strategies, as presented by Laura Duran, Project Manager of the VHIO Hereditary Cancer Genetics Group.
Finally, researchers have also explored innovations in patient-centered care, such as the incorporation of shared decision-making tools in genetic counseling, which improve patient experience without increasing healthcare workload, as shown by Eduard Pérez, clinical nurse specialist.
Furthermore, two studies conducted in the laboratory of the Hereditary Cancer Genetics Group, led by Dr. Sara Gutiérrez-Enríquez, were selected for poster presentation and nominated for awards. Both aim to improve the genetic diagnosis of hereditary breast and ovarian cancer.
One of the studies, led by predoctoral researcher Laia Peralba, seeks to generate new evidence by characterizing cellular responses in patient samples, with the aim of applying it to the classification of variants of uncertain significance. The second study, led by predoctoral researcher Setareh Kompanian, addresses the challenge of evaluating the diagnostic performance of whole genome sequencing in a clinical setting.
Overall, as Dr. Judith Balmaña states, “these studies reflect a transformation in the approach to hereditary cancer based on data integration, advanced genomics, healthcare system efficiency, and personalized care,” consolidating Vall d’Hebron and VHIO as national and international leaders in this field.
