The Roche Institute Foundation has released a report in which it highlights that personalized precision medicine is revolutionizing the knowledge of immune-mediated inflammatory diseases (IMIDs) and favoring clinical decisions that are much more tailored to each patient.
Immunity and inflammation processes are essential for maintaining the body's balance and protecting it from external aggressions. However, when these mechanisms are altered, they can cause a wide range of pathologies.
Among these are IMIDs, such as rheumatoid arthritis, lupus, or psoriasis, a group of chronic diseases characterized by abnormal and persistent activation of the immune and inflammatory system, without a clear external trigger to explain it.
In this scenario, the advent of personalized precision medicine is driving a shift towards approaches based on the specific molecular mechanisms of each individual, rather than applying uniform strategies.
"IMIDs are pathologies with a very variable and difficult-to-predict temporal course and affectation of different organs. Their consequences, in the form of chronicity, organ damage -equivalent to disability-, or their response to different therapeutic options are not easy to anticipate," explained José Luis Pablos Álvarez, Head of the Rheumatology Service at the 12 de Octubre Hospital in Madrid, Professor of Medicine at the Complutense University of Madrid, and coordinator of the report.
For this reason, the specialist insists that "it is necessary to move from organ medicine and traditional diagnosis to mechanism and molecular target medicine in order to treat immune-mediated inflammatory diseases in a transversal and more efficient way."
In his opinion, to be able to manage these pathologies in a more tailored and personalized way, it is crucial to start grouping and treating them based on their specific internal molecular mechanism and not solely according to the organ where they manifest.
"The discovery, in the year 2000, of anti-TNF agents or tumor necrosis factor (TNF) inhibitors, showed that numerous diseases such as different chronic arthritis, inflammatory bowel disease, or psoriasis could be treated with the same drugs," pointed out Álvarez.
However, the response of these diseases to such treatments is far from uniform, so "it is necessary to further specify the endotypes to predict which patients will not respond in order to gain disease-free time, avoiding unnecessary expenses," he added.
Along these lines, he indicated that the implementation of personalized precision medicine is helping to unravel the "enormous heterogeneity" of IMIDs and to define new molecular subtypes thanks to the combination of omics and cell analysis technologies with computational models and bioinformatics tools.
The incorporation of genetic biomarkers and advanced imaging techniques makes it possible to determine the specific pathogenic mechanism of each case and to refine the diagnosis much more. In systemic lupus erythematosus, for example, epigenomic analyses are being applied to stratify patients into subgroups based on their DNA methylation patterns.
Likewise, one of the hallmarks of IMIDs is the limited ability to anticipate their evolution with usual clinical tools. At this point, as the rheumatologist indicates, "prediction derived from artificial intelligence applications on multidomain data (clinical, imaging, biomarkers) is already a reality and facilitates the identification of high-risk patients, anticipating the onset of the disease and the evolution of its activity."
Interventions tailored to the patient's biological profile
The expert maintains that personalized precision medicine will make possible targeted interventions, based on specific biological mechanisms and the individual profile of each patient. Among these are nucleic acid-based therapies, immunoprofiling to guide drug selection, and the promotion of advanced cell therapies, such as CAR-T cells, which broaden the range of options and allow for a more specific and potentially more effective approach.
Similarly, Álvarez highlights that the integration over time of clinical, molecular, and imaging data is facilitating more dynamic and accurate monitoring of patient evolution, early identification of variations in inflammatory activity, anticipation of relapses, and improvement in therapeutic decision-making.
The report also notes that the analysis of the immune response is modifying the paradigm of diseases traditionally not included among IMIDs, such as cancer, aging (inflammaging), cardiovascular pathologies, or certain neuropsychiatric disorders, including depression.
In this regard, Álvarez emphasizes that "the measurement and characterization of changes in the immune system and the inflammatory component associated with almost all disease processes and forms is being an important driver of progress in all these diseases." "Understanding how these factors modify their course and the impact of targeted immunomodulatory therapies is radically changing the management of diseases such as cancer, where the approach has shifted from addressing tumor cell proliferation to modulating the immune-inflammatory environment," he adds.
Among the pending challenges, the specialist points to the need to advance in the use of new biomarkers that allow solving everyday clinical problems. To this end, he considers it essential to reinforce academic training in this field and promote translational studies that validate their usefulness and facilitate their implementation in practice.
Finally, the managing director of the Roche Institute Foundation, Consuelo Martín, underlines that personalized precision medicine is profoundly modifying the way of understanding immune-mediated inflammatory diseases, by favoring an approach focused on the biological mechanisms of each person.
"This change represents one of the lines of development with the greatest potential to improve the diagnosis, treatment, and monitoring of these pathologies in the coming years," she concluded.