Judith Balmaña, MD, PhD

Titles and Affiliations

Head of the Hereditary Cancer Genetics Group
Clinical Research Program

Research area

Testing innovative approaches for routine genetic counseling to tailor prevention and early detection strategies for individuals at variable risk of developing breast and ovarian cancer.

Impact

The current clinical approach for assessing breast and ovarian cancer risk relies on the evaluation of family history and performing genetic testing to detect variants in genes associated with breast and ovarian cancer. However, there are additional genetic variants associated with disease susceptibility that are not captured by common tests. This wider genetic variation may modify the average risk attributed to carriers of pathogenic variants and may also explain the “currently unknown” genetic susceptibility in people who do not carry these variants. Polygenic risk scores (PRS) are a composite of common genetic variation that can be used to refine a person’s susceptibility to diseases that cannot be solely explained by a single pathogenic variant, thus personalizing hereditary cancer risk assessment. Previous work by Dr. Balmaña’s group using gene panel testing and genotyping arrays has demonstrated the potential of applying PRS for expanding risk assessment of breast and ovarian cancer in healthy individuals.

Progress Thus Far

Dr. Balmaña and her team are setting up the required infrastructure to perform a study of 200 whole genome sequencing (WGS) to calculate PRS for candidates for breast and ovarian cancer susceptibility testing. The team has made progress developing a genetic variant interpretation pipeline and designing a genetic counseling protocol.

What’s next

Dr. Balmaña is beginning a pilot study enrolling 20 participants calculating their PRS. The team will assess challenges in recruitment, genetic analysis, variant interpretation, and results disclosure from the pilot to inform the larger scale trial. Following this, they will begin a second phase with 180 participants undergoing cancer genetic susceptibility testing. The team will simultaneously assemble a prospective cohort of women tested to validate the predictive model in their patient population.

Biography

Judith Balmaña is the Head of the Hereditary Cancer Genetics Group at Vall d’Hebron Institute of Oncology (VHIO). In 2005, she established the Familial Cancer Program in the Medical Oncology Department at Hospital Vall d’Hebron (HVH). Since then, she has been leading this program and serving as an Attending Physician in the Breast Cancer Unit. She obtained her PhD in Medicine in 2009 from Universitat Autònoma de Barcelona and completed her residency in medical oncology at the Hospital Sant Pau, Barcelona, Spain.

She is a Professor at the Faculty of Medicine in the International University of Catalonia, and the hereditary cancer track coordinator of the Master in Genetic Counseling (UAB). She has actively been working in national and international hereditary breast cancer guidelines, including SEOM, ESMO, ASCO and ACMG (American College of Medical Genetics). Dr. Balmaña is the chair of the Hereditary Breast Cancer Thematic Group within the European Reference Network in Genetic Tumor Risk (ERN-GENTURIS) since 2017, co-chair of the ESMO Preceptorship in Hereditary Cancer since 2019, and member of the international research consortium CIMBA. She is also a member of the SOLTI’s Cooperative Group in breast cancer.

Dr. Balmaña is interested in unraveling the challenges of implementing the scientific advances in hereditary cancer susceptibility to clinical practice. 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 counseling process for individuals undergoing genetic testing.

Her clinical research group is currently investigating methods to implement analysis of polygenic risk to breast and ovarian cancer and its clinical impact on risk-based surveillance and prevention.