The role of genomics in disease prevention is the focus of the final day of the Jimenez Diaz Foundation and the Roche Institute


The Roche Institute, the Fundación Jiménez Díaz University Hospital in Madrid and its Institute for Health Research (IIS-FJD), managed by the Quirónsalud Health Group, organized the 18th International Conference on Translational Research and Precision Medicine, at that time the presentations dealt withAd hoc precision medicine application in prevention and public health“.

This edition looked at how genomics allows people to be stratified into different levels of risk based on their susceptibility to common diseases. Specialists in non-monogenic breast cancer, cardiovascular diseases, and mental and neurodegenerative diseases revealed current courses of action in their areas and the challenges they face.

Opening this meeting, Dr. Carmen Ayuso, Head of the Department of Genetics at Fundación Jiménez Díaz University Hospital and Scientific Director of the IIS-FJD Institute, explained that knowing the genetic architecture of these common diseases can make this possible. To identify genetic variants that increase the risk of developing these diseases.

However, Carmen Ayusu stressed that in order to move forward with the incorporation of prediction models into the use of polygenic risk estimates (PRS) as preventive medicine and public health strategies, it is necessary to address challenges, both analytical (lack of diversity of existing data samples; deepening knowledge of the genome ; need for clinical trials on developed models, …), implementation (management of population expectations; regulation; lack of standards) and ethics (barriers to access; psychosocial impact of outcomes, etc.).

Genomic information in early detection of breast cancer

The Director of the Human Genotyping Unit at the National Center for Cancer Research (CNIO), Dr. Ana González-Nera, explained that integrating new technologies into a personalized precision medicine framework allows for the inclusion of genomic information in clinical practice.

Ana González-Nera, who stated that models like this one because BOACIDEA (Breast and Ovarian Analysis Algorithm Model of Disease Incidence and Carrier Estimation) make it possible to estimate individual risk, though work continues to improve their predictive power.

To this end, multicenter studies are being conducted within international consortia, with BCAC (Breast Cancer Association Consortium), which allow the identification of novel genes and the elimination of those that do not show a clear association.

“Implementation of these predictive models for subjective risk assessment will make it possible to identify high-risk women in the population who could benefit from more comprehensive follow-up, which means earlier detection of the tumor, which leads to increased survival and an improvement in quality of life,” said Gonzalez. Nira, who added, “This will allow the identification of women with a low risk who would benefit from existing prevention options.”

Precision medicine

Dr. Mara Parellada, Fellow of the Department of Child and Adolescent Psychiatry at Gregorio Marañón General Hospital in Madrid and a researcher at the Center for Biomedical Research of the Mental Health Network (CIBERSAM) and the Gregorio Marañón Health Research Institute (IiSGM), stressed the importance of personalized precision medicine as the only possible development of progress in improving therapies for mental illness.

“We currently have clinical guidelines and treatment indications for mental disorders, but behind each of them, there are very diverse patients,” explained this researcher, adding that “we are on our way to beginning to stratify patients into subgroups or biotypes with more homogeneous biorhythms.” “Thus, we will be able to develop more specific biomedical treatments,” he explained.

Mara Parellada highlighted the benefits obtained from precision medicine customized in the National Health System (SNS), in childhood or adolescence in the case of monogenic neurodevelopmental disorders.

“Knowing the etiology allows us to discover mechanisms, find and test therapeutic targets, as well as predict potential comorbidities and provide genetic counseling to parents,” said Perilada. “For other disorders, stratification by more homogeneous subgroups improves clinical trial performance to better select patients for enrollment in each study before introducing new therapies into the clinic,” he said.

Improved disease prediction models

Director of the Galicia General Foundation for Genomic Medicine and Coordinator of the Genomic Medicine Group at the University of Santiago de Compostela (USC) in A Coruña, Dr. Ángel Carracido, gave the keynote address “Application of polygenic risks to public health. State of the art European initiatives“.

“The polygenic risk estimates that we know, for their acronym in English, PRS, are a universal measure of the genetic risk of developing a disease by a person in relation to the general population,” explained Ángel Carracedo, who declared that risk prediction is an essential part of future medicine.

In the words of this specialist, this “contributes to the prediction of population and, in some cases, individual risks, and also makes it possible to understand the polygenic component of disease and subdivide it into subgroups with scientific evidence, which is an essential aspect for the advancement of personalized precision medicine.”


PRS is calculated by adding in a weighted manner the individual effect on the risk of each of the genetic variants associated with a particular pathology. “These variants were discovered thanks to whole-genome association studies called GWAS (genome-wide association study) in which hundreds of thousands of variants in thousands of cases and controls are analyzed,” said Angel Carracido.

In addition, Carracido added that “the PRS, along with other clinical and epidemiological risk estimates, is improving disease prediction models in order to anticipate the problem and design actions to delay, reduce or avoid disease.”


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