a revolutionary method in medicine

Compilation
Roche Institute Foundationfrom Trend Observatory in the future of medicine, has published a new “visionary” report on precision phenotyping. The technology is expected to help more accurate diagnoses, knowledge of disease determinants, improved therapeutic strategiesunderstand the changes that occur in the disease phenotype over time, as well as the underlying mechanisms, all of which optimize the overall care process.

Precision phenotyping aims to deeply characterize health conditions and diseases in order to understand the relationships that exist between the various factors that influence their development. And, in turn, the traits, signs, and symptoms that occur in humans. In short, to pursue create internationally codified and standardized terminologythat enables health information to be managed and interpreted by any person or computer and in any health system or context.

Accuracy in the study of the phenotype is necessary to understand the spectrum of possible manifestations of the disease. It thus allows us to represent the characteristics of health and disease states in the greatest possible detail, so that be able to objectively integrate and analyze phenotypic information for use in research or clinical practice.

Accuracy in phenotypic characterization is essential to understand the spectrum of possible disease manifestations.

This description includes more general aspects such as clinical and demographic characteristics, to more specific aspects such as omics data, genetic changes, cellular interactions, etc.However, many of the phenotypic descriptions made are imprecise and heterogeneous and are subject to biases related to the knowledge and training of physicians and the health situation in each country.

As the report’s coordinator, Professor of Human Genetics and Head of the Research Group at the Institute of Medical and Molecular Genetics (Ingemm) IdiPaza and Scientific Director of Ciberer, stated, Dr. Pablo LapunzinaIt is a standardized international coding tool that was adopted to enable one language to be spoken anywhere in the world: “Traditionally, we have shared a patient’s signs and symptoms by translating these observed characteristics into English. Now we send the doctor an alphanumeric code. each of these signs and symptoms so that you no longer have to do any translation or any type of translation.”.

Precision phenotyping is thus considered a useful tool in personalized precision medicine as it will enable a better understanding of biological variability as well as identify correlations between available patient data and observed phenotypes of various diseases. According to Managing Director of the Rocha Institute Foundation Consuelo Martin de Dios, “The ability to query and use data in the healthcare system will allow for more accurate classification of signs and symptoms and therefore diseases, with the ultimate goal of improving people’s health.”.

Accurate phenotyping requires a system that allows for standardization of terminology, synonyms, or ways of expressing a particular characteristic with a single term.

Accurate phenotyping requires a system that standardizes terminology, synonyms, or ways of expressing a particular characteristic with a single term. The purpose of these systems is to encode terms related to a particular characteristic into a single code, usually alphanumeric and organized in a hierarchical structure.

As Dr. Lapuntsina points out, these systems have traditionally been organized into taxonomies, i.e., a classification scheme that organizes concepts or elements into hierarchical categories and structures according to common characteristics, allowing large amounts of information to be systematically organized. . and understandably. However, “large amounts of information generated within the framework of personalized precision medicine, as well as the need to move to precise phenotyping, have led to these classifications evolving into more complex systems, so-called ontologies,” the expert comments.

Ontologies are systems that offer a formal representation of a set of concepts within a subject area and the relationships between these concepts, facilitating automated analysis and interaction between systems, such as databases with graphs that establish relationships between data. According to Dr. Lapuzina, although many ontologies have been developed for this purpose in recent decades, the initiative Ontology of the human phenotype (HPO) is the most widely used for coding signs, symptoms, and medical findings. Here’s how he explains it: “This system integrates all the phenotypic information contained in scientific and clinical databases of monogenic and common diseases by matching terms contained in other medical-scientific ontologies and vocabularies.”

Optimizing the care process

Precision phenotyping using ontologies such as HPO has enormous potential to transform all aspects of medicine. from research to diagnosis and treatmentpromoting a precise, personalized and effective approach. It is also positioned as a support tool in research on diseases and their underlying mechanisms to identify new therapeutic targets, in addition to optimizing clinical trials, through the selection of patients with specific phenotypes.

In particular, the expert claims that “It is beginning to be used for therapeutic research, try to find symptomatic treatmentwho treat symptoms with drugs that are used for other purposes.”.

The accuracy of phenotypic determination has an important impact on diagnosis, which determines the decision on the choice of therapeutic strategy. As part of the HPO initiative, More accurate differential diagnostics has been achieved through the development of statistical models. For example, Phenomizerwhich allows us to compile a ranking of possible diagnoses, ordered by probability.

In addition, by comparing detailed phenotypes, it will be possible to differentiate diseases with similar clinical manifestations, which increases the accuracy of diagnosis. Similarly, according to Dr. Lapuntsina, «allows for improved treatment through the development of treatment methods “more effective for each patient by correlating specific phenotypes with treatment response”.

On the other hand, it is also presented as a tool to support the training of health professionals by providing a standardized and universal language that improves clinicians’ knowledge and understanding of the phenotypic diversity of diseases.

The accuracy of phenotype determination has an important impact on diagnosis, which determines the decision on the choice of therapeutic strategy.

Despite all its advantages and potential applications, precision phenotyping is an area that is still in the research phase and faces a number of challenges to optimize the information that can be obtained from its study and its implementation in real-life clinical practice. Some of them are related to the lack of integration between ontologies and dictionaries of medical terminology.as well as a lack of knowledge and training of health workers in the field of accurate phenotyping.

“Regional health systems in Spain do not have absolute consensus on the use of HPO and do not code everything with HPO, it is a fairly young system and in some specialties it has not achieved the expected adoption”– emphasizes Dr. Lapuntsina.

Faced with these challenges, the Report makes a number of recommendations, ranging from promoting international cooperation to harmonize terminology and creating working groups to modernize the technological infrastructure of healthcare systems and encourage collaboration between institutions, hospitals and technology companies, among others. “Precision phenotyping is a field that is coming soon. The sooner we do it and the sooner we can implement it, the better it will be for everyone, because it allows data to be queried and managed across the healthcare system for the benefit of all patients.”– concludes Dr. Lapuntsina.