Healthcare has changed more in the past two decades than it ever did for centuries. We are experiencing a radical change whose dimensions not even experts are capable of predicting. Better understanding of diseases, thanks to genomics and the development of molecular diagnostics, and the digitization of health and the advancement of big data biomedical have given rise to what is known as personalized medicine, a concept that represents a turning point in the way of solving health problems.
The I Conference on Personalized Medicine: realities, challenges and opportunities, organized by Roche Spain last week, addressed this new paradigm and its future lines. At the inauguration, the CEO of Roche Spain, Stefanos Tsamousis, pointed out that “seeking the appropriate treatment for each patient at the specific time they need it is the way forward.” Achieving this goal is already a reality in some types of cancer, such as melanoma or breast or lung tumors, an advance that has been made possible by advances in molecular diagnostics and other sciences that have been recorded in recent years. Precision medicine has started in oncology and has also developed a lot in rare diseases. Personalized treatments in these specialties are just the beginning; hematology, neurosciences or ophthalmology are areas of immediate development of personalized medicine.
The first step, DNA sequencing
Adriana Rubio, general director of Roche Diagnostics in Spain, pointed out the goal of precision medicine: “It aims to identify patients who differ in their susceptibility to a certain disease, their prognosis of the same or their response to a certain treatment through the analysis and integration of genomic, radiological, clinical or environmental data of the patient ”. The sequencing of the human genome at the beginning of the century marked the beginning of this process because it allowed us to know specific mutations linked to diseases and to develop therapeutic targets to address them.
We work on the development of innovative drugs that adjust to the specific molecular profile of each disease to offer a tailored therapeutic approach
Stefanos Tsamousis, General Manager of Roche Spain
The study of DNA and other disciplines (microbiota, etc.) has generated huge amounts of information whose understanding is essential for the deployment of personalized medicine. In the opinion of Federico Plaza, director of Corporate Affairs at Roche Farma, in order to take advantage of the avalanche of data it is necessary “to have tools capable of interpreting them, of converting information into knowledge in order to transfer it to clinical practice.”
The analysis of the data will make the resolution of certain health problems radically change, as Julián Isla, an expert in artificial intelligence, scientific director of the European Dravet Syndrome Foundation and member of the Committee for Orphan Medicines of the European Medicines Agency (EMA): “Predictably, in the future, medical diagnosis will be based on a mathematical prognosis that will be the result of combining numerous algorithms and data from many different sources. The patient is a complex entity, so the diseases that he suffers will have an associated number that includes their complexity and helps the machines to determine the pathology with name and surname ”.
Access to precision diagnostics
In the future scenario that is drawn, technology will play a fundamental role, it seems like science fiction, but the professionals will continue to be irreplaceable. In fact, the coming revolution affects in one way or another all agents linked to health, also patients, pharmaceutical companies or health administrations. In this sense, Ángel Carracedo, director of the Galician Public Foundation for Genomic Medicine, demanded that the public sector support, promote and invest in the research of new markers and urged that Spain bet decisively “to be part of the avant-garde in this type of medicine, participating in interesting projects at the international level ”.
Precision medicine is an ambitious tool for diagnosis and treatment that will not only diagnose or treat, but also “avoid or prevent certain pathologies in individuals more predisposed to suffer them,” said Xavier Matías-Guiu, head of the Bellvitge Hospital Service and President of the International Society of Gynecological Pathologists (ISGYP). In the opinion of specialists, we are at the beginning of a qualitative leap in health management. According to Rafael López, head of the Oncology Service of the Santiago de Compostela University Hospital Complex, “it marks a turning point in the way not only of doing medicine, but of managing it.”
How to make the health system sustainable
The transformation that personalized medicine entails will mean a radical change in patient care and also in the organization of the health system. Spain enjoys a quality public care model with universal access that is a reference throughout the world, and preserving that model implies creating a new, more efficient healthcare ecosystem. According to Teresa Ramos, head of Personalized Medicine at Roche Spain, it should be based on “new policies and regulations, new access and financing models, new infrastructures, new capacities, new profiles and new interactions between the different agents to generate a new clinical practice” .
For personalized medicine to be a reality, the close collaboration of all agents linked to health management is required.
In this collaborative scenario, the innovative pharmaceutical sector becomes an essential scientific ally to create integrated and sustainable solutions, together with health systems, in the face of increasingly complex needs, demands and problems. Roche’s goal is to lead this revolution by betting on biomedical research, an area in which it is a leader in Spain. “We work intensively on the development of innovative drugs that, increasingly, are adjusted to the specific molecular profile of each disease to offer a therapeutic approach tailored to each patient,” Stefanos Tsamousis said at the conference.
Biomedical research also includes the development of diagnostic and digital tools that guarantee the individualized approach to diseases. Hence, Roche has focused on the development of what are considered three pillars of personalized medicine: precision diagnostics (genomic sequencing and liquid biopsy), the development of innovative therapies targeting patient-specific biomarkers, and the analysis of data with tools such as artificial intelligence or machine learning.
The goal of personalized medicine is to offer patients the best options to improve health and quality of life. This collective effort requires the knowledge of numerous professionals (oncologists, pathologists, researchers, bioinformatics) and also learning about the collaborative work that the pandemic has left us. “In dealing with covid-19, we have managed to develop drugs that previously took 10 or 12 years in a year or a year and a half. The pandemic has taught us to do science in a different way, ”Federico Plaza pointed out as the conclusion of the day.