The Department of Industry, and of Ecological and Digital Business Transition of the Government of Navarra has financed with 970.117,83 euros he NAGENMx projectwithin its call for aid for strategic R&D projects. The objective has been to develop a New methodology for estimating breast cancer risk including personalized medicine techniques such as the study of the genomic and epidemiological components of risk.
Navarrabiomed has led the development of this strategic initiative in which professionals from the University Hospital of Navarra, the Public and Occupational Health Institute of Navarra (ISPLN) and the company NNBi have also participated.
According to current health guidelines, current population-based breast cancer screening programmes focus on age as a priority criterion. These programmes have contributed for decades to successfully improving early diagnosis and survival from this disease. However, current schemes date back more than 30 years and have not been updated to take into account new scientific discoveries.
The project incorporates genomic sequencing, thanks to which alterations in genes can be identified with a single test. known high susceptibility and multiple common modifying genomic variations to adjust risk parameters for use in the population.
Thanks to this study, a methodology has been validated that allows get a personalized risk calculation. In this way, the population studied was able to be stratified into seven subgroups with different risk levels, which reclassify the probability of having breast cancer for more than 50% of the patients studied with respect to their initial clinical assessment. NAGENMx confirms that this type of screening based on the individual risk of each person would allow current detection levels to be maintained while reducing mammograms and, therefore, other negative indicators of the screening program such as false positives or overdiagnosis. This proposal, as well as the rest of the documentation that supports its effectiveness, have been made available to the ISPLN for evaluation and possible implementation in Navarra.
This disease currently has the highest incidence rate among women. However, its survival rate is also listed as the highest, largely thanks to the prevention strategies of the early detection program for breast cancer. In 2020, 2.3 million women worldwide were diagnosed with breast cancer. Meanwhile, in Navarra, 390 cases were diagnosed in 2015 and 452 in 2023.
The work on this project has been developed by the Genomic Medicine and Methodology Units of the Navarrabiomed biomedical research centre, the Genetics and Medical Oncology services of the University Hospital of Navarra, ISPLN and by the company NNBi. The initiative has been led by Angel Alonso, head of the Genomic Medicine Unit of Navarrabiomed and specialist physician in the Clinical Genetics Area of the University Hospital of Navarra.
