Applied pharmacogenetics to predict response to treatment of first psychotic episode: study protocol
The application of personalized medicine in patients with first-episode psychosis (FEP) requires tools for classifying patients according to their response to treatment, considering both treatment efficacy and toxicity. However, several limitations have hindered its translation into clinical practic...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Psychiatry |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1497565/full |
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| author | Sergi Mas Sergi Mas Sergi Mas Laura Julià Manuel J. Cuesta Manuel J. Cuesta Manuel J. Cuesta Benedicto Crespo-Facorro Benedicto Crespo-Facorro Benedicto Crespo-Facorro Benedicto Crespo-Facorro Javier Vázquez-Bourgon Javier Vázquez-Bourgon Javier Vázquez-Bourgon Carlos Spuch Carlos Spuch Ana Gonzalez-Pinto Ana Gonzalez-Pinto Angela Ibañez Angela Ibañez Judith Usall Judith Usall Cristina Romero-López-Alberca Cristina Romero-López-Alberca Ana Catalan Ana Catalan Ana Catalan Ana Catalan Ana Catalan Anna Mané Anna Mané Anna Mané Anna Mané Miquel Bernardo Miquel Bernardo Miquel Bernardo Miquel Bernardo |
| author_facet | Sergi Mas Sergi Mas Sergi Mas Laura Julià Manuel J. Cuesta Manuel J. Cuesta Manuel J. Cuesta Benedicto Crespo-Facorro Benedicto Crespo-Facorro Benedicto Crespo-Facorro Benedicto Crespo-Facorro Javier Vázquez-Bourgon Javier Vázquez-Bourgon Javier Vázquez-Bourgon Carlos Spuch Carlos Spuch Ana Gonzalez-Pinto Ana Gonzalez-Pinto Angela Ibañez Angela Ibañez Judith Usall Judith Usall Cristina Romero-López-Alberca Cristina Romero-López-Alberca Ana Catalan Ana Catalan Ana Catalan Ana Catalan Ana Catalan Anna Mané Anna Mané Anna Mané Anna Mané Miquel Bernardo Miquel Bernardo Miquel Bernardo Miquel Bernardo |
| author_sort | Sergi Mas |
| collection | DOAJ |
| description | The application of personalized medicine in patients with first-episode psychosis (FEP) requires tools for classifying patients according to their response to treatment, considering both treatment efficacy and toxicity. However, several limitations have hindered its translation into clinical practice. Here, we describe the rationale, aims and methodology of Applied Pharmacogenetics to Predict Response to Treatment of First Psychotic Episode (the FarmaPRED-PEP project), which aims to develop and validate predictive algorithms to classify FEP patients according to their response to antipsychotics, thereby allowing the most appropriate treatment strategy to be selected. These predictors will integrate, through machine learning techniques, pharmacogenetic (measured as polygenic risk scores) and epigenetic data together with clinical, sociodemographic, environmental, and neuroanatomical data. To do this, the FarmaPRED-PEP project will use data from two already recruited cohorts: the PEPS cohort from the “Genotype-Phenotype Interaction and Environment. Application to a Predictive Model in First Psychotic Episodes” study (the PEPs study from the Spanish abbreviation) (N=335) and the PAFIP cohort from “Clinical Program on Early Phases of Psychosis” (PAFIP from the Spanish abbreviation) (N = 350). These cohorts will be used to create the predictor, which will then be validated in a new cohort, the FarmaPRED cohort (N = 300). The FarmaPRED-PEP project has been designed to overcome several of the limitations identified in pharmacogenetic studies in psychiatry: (1) the sample size; (2) the phenotype heterogeneity and its definition; (3) the complexity of the phenotype and (4) the gender perspective. The global reach of the FarmaPRED-PEP project is to facilitate the effective deployment of precision medicine in national health systems. |
| format | Article |
| id | doaj-art-89e6383ba1db489e908e173983ef6ecb |
| institution | DOAJ |
| issn | 1664-0640 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Psychiatry |
| spelling | doaj-art-89e6383ba1db489e908e173983ef6ecb2025-08-20T02:43:42ZengFrontiers Media S.A.Frontiers in Psychiatry1664-06402025-01-011510.3389/fpsyt.2024.14975651497565Applied pharmacogenetics to predict response to treatment of first psychotic episode: study protocolSergi Mas0Sergi Mas1Sergi Mas2Laura Julià3Manuel J. Cuesta4Manuel J. Cuesta5Manuel J. Cuesta6Benedicto Crespo-Facorro7Benedicto Crespo-Facorro8Benedicto Crespo-Facorro9Benedicto Crespo-Facorro10Javier Vázquez-Bourgon11Javier Vázquez-Bourgon12Javier Vázquez-Bourgon13Carlos Spuch14Carlos Spuch15Ana Gonzalez-Pinto16Ana Gonzalez-Pinto17Angela Ibañez18Angela Ibañez19Judith Usall20Judith Usall21Cristina Romero-López-Alberca22Cristina Romero-López-Alberca23Ana Catalan24Ana Catalan25Ana Catalan26Ana Catalan27Ana Catalan28Anna Mané29Anna Mané30Anna Mané31Anna Mané32Miquel Bernardo33Miquel Bernardo34Miquel Bernardo35Miquel Bernardo36Department of Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, SpainInstitut d’investigacions Biomèdiques August Pi i Sunyer (IDIBAPs), Barcelona, SpainCentro de Investigación Biomédica en Red en Salud Mental (CIBERSAM), Madrid, SpainInstitut d’investigacions Biomèdiques August Pi i Sunyer (IDIBAPs), Barcelona, SpainCentro de Investigación Biomédica en Red en Salud Mental (CIBERSAM), Madrid, SpainDepartamento de Psiquiatría, Hospital Universitario de Navarra, Pamplona, SpainInstituto de Investigación Sanitaria de Navarra (IdiSNA), Pamplona, SpainCentro de Investigación Biomédica en Red en Salud Mental (CIBERSAM), Madrid, SpainUnidad de Gestión Clínica de Salud Mental, Hospital Universitario Virgen del Rocío, Sevilla, SpainInstituto de Biomedicina de Sevilla (IBiS), Hospital Universitario VIrgen del Rocio/Centro Superior de Investigaciones Cinetíficas (HUVR/CSIC)/Universidad de Sevilla, Seville, SpainDepartment of Psychiatry, Universidad de Sevilla, Seville, SpainCentro de Investigación Biomédica en Red en Salud Mental (CIBERSAM), Madrid, SpainDepartamento de Psiquaitria, Marqués de Valdecilla University Hospital – IDIVAL, Santander, Spain0Departamento de Medicina y Psiquiatria, Universidad de Cantabria, Santander, SpainCentro de Investigación Biomédica en Red en Salud Mental (CIBERSAM), Madrid, Spain1Translational Neuroscience Research Group, Galicia Sur Health Research Institute (IIS-Galicia Sur), Servizo Galego de Saúde/Universidad de Vigo (SERGAS-UVIGO), Vigo, SpainCentro de Investigación Biomédica en Red en Salud Mental (CIBERSAM), Madrid, Spain2BIOARABA, Department Psychiatry, Hospital Universitario Alava, Universidad del País Vasco/Euskal Herriko Unibertsitatea Vitoria (UPV/EHU), Vitoria, SpainCentro de Investigación Biomédica en Red en Salud Mental (CIBERSAM), Madrid, Spain3Department of Psychiatry, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain4Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain5Centre de Salut Mental, Parc Sanitari Sant Joan de Déu, Sant Boi de Llobregat, Barcelona, SpainCentro de Investigación Biomédica en Red en Salud Mental (CIBERSAM), Madrid, Spain6Departament de Ciències Experimentals i de la Salut, Department of Psychology, University of Cadiz, Cádiz, SpainCentro de Investigación Biomédica en Red en Salud Mental (CIBERSAM), Madrid, Spain7Psychiatry Department, Basurto University Hospital, Osakidetza, Basque Health Service, Bilbao, Spain8Biobizkaia Health Research Institute, OSI Bilbao-Basurto, Bilbao, Spain9Neuroscience Department, University of the Basque Country, Leioa, Spain0Department of Psychosis Studies, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, United KingdomCentro de Investigación Biomédica en Red en Salud Mental (CIBERSAM), Madrid, Spain1Institut de Salud Mental, Hospital del Mar, Barcelona, Spain2Hospital del Mar Research Institute, Barcelona, Spain3Universitat Pompeu Fabra (UPF), Barcelona, SpainInstitut d’investigacions Biomèdiques August Pi i Sunyer (IDIBAPs), Barcelona, SpainCentro de Investigación Biomédica en Red en Salud Mental (CIBERSAM), Madrid, Spain4Barcelona Clinic Schizophrenia Unit, Hospital Clínic de Barcelona, Barcelona, Spain5Departament de Medicina, Institut de Neurociències (UBNeuro), Universitat de Barcelona (UB), Barcelona, SpainThe application of personalized medicine in patients with first-episode psychosis (FEP) requires tools for classifying patients according to their response to treatment, considering both treatment efficacy and toxicity. However, several limitations have hindered its translation into clinical practice. Here, we describe the rationale, aims and methodology of Applied Pharmacogenetics to Predict Response to Treatment of First Psychotic Episode (the FarmaPRED-PEP project), which aims to develop and validate predictive algorithms to classify FEP patients according to their response to antipsychotics, thereby allowing the most appropriate treatment strategy to be selected. These predictors will integrate, through machine learning techniques, pharmacogenetic (measured as polygenic risk scores) and epigenetic data together with clinical, sociodemographic, environmental, and neuroanatomical data. To do this, the FarmaPRED-PEP project will use data from two already recruited cohorts: the PEPS cohort from the “Genotype-Phenotype Interaction and Environment. Application to a Predictive Model in First Psychotic Episodes” study (the PEPs study from the Spanish abbreviation) (N=335) and the PAFIP cohort from “Clinical Program on Early Phases of Psychosis” (PAFIP from the Spanish abbreviation) (N = 350). These cohorts will be used to create the predictor, which will then be validated in a new cohort, the FarmaPRED cohort (N = 300). The FarmaPRED-PEP project has been designed to overcome several of the limitations identified in pharmacogenetic studies in psychiatry: (1) the sample size; (2) the phenotype heterogeneity and its definition; (3) the complexity of the phenotype and (4) the gender perspective. The global reach of the FarmaPRED-PEP project is to facilitate the effective deployment of precision medicine in national health systems.https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1497565/fullpersonalized medicineantipsychoticpredictionpsychosisPharmacogenetics |
| spellingShingle | Sergi Mas Sergi Mas Sergi Mas Laura Julià Manuel J. Cuesta Manuel J. Cuesta Manuel J. Cuesta Benedicto Crespo-Facorro Benedicto Crespo-Facorro Benedicto Crespo-Facorro Benedicto Crespo-Facorro Javier Vázquez-Bourgon Javier Vázquez-Bourgon Javier Vázquez-Bourgon Carlos Spuch Carlos Spuch Ana Gonzalez-Pinto Ana Gonzalez-Pinto Angela Ibañez Angela Ibañez Judith Usall Judith Usall Cristina Romero-López-Alberca Cristina Romero-López-Alberca Ana Catalan Ana Catalan Ana Catalan Ana Catalan Ana Catalan Anna Mané Anna Mané Anna Mané Anna Mané Miquel Bernardo Miquel Bernardo Miquel Bernardo Miquel Bernardo Applied pharmacogenetics to predict response to treatment of first psychotic episode: study protocol Frontiers in Psychiatry personalized medicine antipsychotic prediction psychosis Pharmacogenetics |
| title | Applied pharmacogenetics to predict response to treatment of first psychotic episode: study protocol |
| title_full | Applied pharmacogenetics to predict response to treatment of first psychotic episode: study protocol |
| title_fullStr | Applied pharmacogenetics to predict response to treatment of first psychotic episode: study protocol |
| title_full_unstemmed | Applied pharmacogenetics to predict response to treatment of first psychotic episode: study protocol |
| title_short | Applied pharmacogenetics to predict response to treatment of first psychotic episode: study protocol |
| title_sort | applied pharmacogenetics to predict response to treatment of first psychotic episode study protocol |
| topic | personalized medicine antipsychotic prediction psychosis Pharmacogenetics |
| url | https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1497565/full |
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