Health will approve this year its precision medicine strategy, the ‘tailored suit’ for numerous rare diseases …

Going from ‘one size’ to ‘tailored suit’. That is the objective pursued by the new Strategic Plan for Precision Personalized Medicine that is already being completed by the Ministry of Health and that will mean a change in the prevention and treatment of numerous diseases in patients distinguished by their genetics, their susceptibility to suffering a pathology or by its response to a certain treatment.

The strategy, in which work is being done so that it sees the light this year 2021 and that will be implemented progressively, will affect both patients suffering from rare diseases, as well as oncological processes and other hereditary-based diseases, as explained to Ical sources of the Ministry of Health.

Planning is based on a new vision of medicine, a paradigm shift that translates into a more precise clinical approach, both in diagnosis and in treatment, since by adjusting a single patient, which will revert to improvement quality, reduce adverse effects and advance safety.

With these premises, and hand in hand with the “vertiginous advance of technology”, the plan will affect 13 strategic lines that include the development of the portfolio of services and the map of resources; parameters to ensure compliance with standards; implement technology for the diagnosis of genetically based diseases, while planning to incorporate new specialties into the system such as Clinical Genetics or Bioinformatics.

The objectives also go through compliance with ethical standards, handling of information on a large scale; study of the variability of the response to drugs, and aspects related to cooperation, professional coordination and training.

The document will influence research, since in addition to having a plan related to the incorporation of new specialists, it delves into training strategies, both university and continuing, as well as other research and innovation both in the diagnostic and therapeutic fields, management of big data and one of Pharmacogenetics application.

“Personalized precision medicine focuses attention on the individual characteristics of the patient. Combining the advantages of technology with the personalization of care allows better focusing health care and adapting it in each case ”, explains to Ical the head of the Regional Reference Unit for Rare Diseases of Castilla y León, DiERCyL, María Isidoro García, who is also head of the Clinical Analysis Service of the Salamanca University Assistance Complex.

Reference model

The doctor highlights the opportunities that the strategy opens up for patients, based on the “new vision that has developed in Castilla y León over recent years, which has been a pioneer in many fields in the field of Genomics or Pharmacogenetics ”, he specifies.

In fact, he explains, that the 2019 Roche Institute Report ‘Personalized Precision Medicine in Spain: Community Map’, places Castilla y León among the most developed communities, along with Andalusia, Catalonia, Galicia and the Basque Country, and concludes that “the methodology defined for the application of personalized precision medicine in Castilla y León is considered a reference model at the state level with potential for implementation in other autonomous communities.” In fact, professionals from all over Spain come to the Community to know their model, for which there is more than three years of waiting list.

Opportunities

The aim is for the system to revolve around the patient, so that it also seeks to facilitate continuity of care, reduce travel between different consultations and response times, adjust clinical and laboratory diagnostic resources to needs of each case, avoid duplication and facilitate the creation of multidisciplinary teams with greater coordination and communication between specialists in the clinical assessment of patients, adds Isidoro García.

The planning starts from the premise of the extension and geographical dispersion of Castilla y León for which it foresees coordinated networks and make the most of resources. It also takes into account the difficulties posed by the enormous technological development -genomics and massive sequencing, determination of biomarkers, use of large volumes of data, among others- that will force Sacyl to incorporate the latest advances in order to offer quality assistance. In fact, it highlights the need for high specialization on the part of professionals, both in the clinical field and in the laboratory.

First steps

At this time, Castilla y León already has several plans and services on which the new strategy has been built and which will be expanded. This is the case of the hereditary cancer program, especially in breast, ovarian and colon cancer; the CSUR National Reference Unit for Family Heart Disease, in Salamanca, which has a high level of specialization focused, among other aspects, on the prevention of sudden death; and the Regional Reference Unit for Advanced Diagnosis of Rare Diseases, which so far has attended to almost 2,500 patients throughout the Community, with the identification of more than 50 ultra-rare diseases.

There is also the Non-Invasive Prenatal Diagnosis Unit, recently accredited, and the Pharmacogenetics and Precision Medicine Unit, in Salamanca, a pioneer in the application of pharmacogenetic studies in the treatment of polymedicated patients; the use of biomarkers for the choice of treatment in certain tumors; and the development of CART-t therapies developed in the charro hospital for some hematological cancers.

These latest therapies highlight the characteristics and reality of precision medicine. These are immune cells – T lymphocytes – extracted from the patient himself that are genetically modified, administered again to the patient and allow these T lymphocytes to recognize a specific protein, an antigen, of the tumor cells.

“The strategy raises new scenarios related to care coordination, which can facilitate our patients’ access to the different care structures as well as the implementation of units that may have a greater need for development,” sums up Isidoro García, for whom the Sacyl plan It collects all the conclusions of the presentation on Medina Genómica de Precisión, which was developed in the Senate in 2019 and on which national planning is based. “The regional strategy collects all the aspects of these conclusions and positions us to be able to develop each one of the aspects, therefore we will be totally aligned”, sentence.

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