The NAGEN-Mx project, led by Dr. Ángel Alonso, aimed to provide the evidence and methodology necessary to implement a personalized population-based screening program for the early detection of breast cancer in the Chartered Community of Navarra.
Current schemes generally pivot on a uniform service (a "one size fits all" model), primarily based on the age of the participants. However, recent studies have shown that it is possible to determine a woman's individual risk of developing breast cancer with much greater accuracy by studying her genetic and clinical factors.
A total of 875 women participated, of whom 490 whole genomes were sequenced. Based on the genetic and clinical data, the well-known polygenic risk score (PRS) was adjusted to adapt it to the population of Navarra, improving accuracy in risk estimation.
The results showed that many women were reclassified into a different risk group than initially assigned, demonstrating the potential of personalized screening. Additionally, the social acceptance of this new approach was studied, observing a high willingness to participate following specific information sessions.
The project was developed by Navarrabiomed, the HUN, NNBi, and the Institute of Public and Occupational Health of Navarra (ISPLN), with funding from the Government of Navarra.