
Judith Balmaña
Medical Oncology
Vall d’Hebron University Hospital
Barcelona
Spain
Judith Balmaña is the Head of the Hereditary Cancer Genetics Group at Vall d’Hebron Institute of Oncology (VHIO). In 2005, she was hired to establish the Hereditary Cancer Genetics Group in the Medical Oncology Department at Hospital Vall d’Hebron and VHIO. Since then, she has been leading this program and serving as an Attending Physician in the Breast Cancer Unit. She is a Professor at the Faculty of Medicine in the International University of Catalonia, and the coordinator of the hereditary cancer track of the Master in Genetic Counseling (UAB).
She chairs the Hereditary Breast Cancer Thematic Group within the European Reference Network in Genetic Tumor Risk (ERN-GENTURIS) since 2017 and she is an active member of the international research consortium CIMBA, working in hereditary breast cancer. She is also a member of the SOLTI’s Cooperative Group in breast cancer. She has actively been working in national and international hereditary breast cancer guidelines, including SEOM, ESMO, ASCO and ACMG (American College of Medical Genetics). She is the chair of the ESMO Preceptorship in Hereditary Cancer since 2019.
Dr Balmaña is interested in unravelling the challenges of implementing the advances in diagnosis of hereditary cancer susceptibility to clinical practice. She is involved in national and international collaborations for clinical research projects, guidelines, and consulting boards in hereditary cancer. She is proactively working on implementing the gene panels for hereditary cancer, a personalized breast cancer risk estimation and surveillance, and delineating the professional framework to provide an adequate genetic counselling process for individuals undergoing genetic testing. Her interest in the genetic epidemiology of hereditary breast cancer has linked much of her research with the VHIO and HVH Oncogenetics Laboratory, while her translational research in breast cancer is focused on identification of biomarkers and mechanisms of resistance to targeted therapies for BRCA-associated tumors, in collaboration with the Experimental Therapies Lab at VHIO. She is also investigating the impact of incidental findings in exome sequencing among pediatric patients and their actionability and psychological impact.