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Criterios de derivación a genética clínica desde Atención Primaria. Documento de consenso

INTRODUCTION: Primary care (PC) is the first contact between the patient and the doctor, so it is essential to be clear about the criteria for suspecting a genetic disease and where it should be referred for study. MATERIAL AND METHODS: Four scientific societies: the Spanish Society of Family and Co...

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Detalles Bibliográficos
Autores principales: Ejarque Doménech, Ismael, Marín Reina, Purificación, García-Miñaur Rica, Sixto, Chirivella González, Isabel, Martínez Martínez, María Teresa, García Rodríguez, Ana María, Álvarez de Andrés, Sara, Tellería Orriols, Juan José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9663853/
https://www.ncbi.nlm.nih.gov/pubmed/36375295
http://dx.doi.org/10.1016/j.aprim.2022.102501
Descripción
Sumario:INTRODUCTION: Primary care (PC) is the first contact between the patient and the doctor, so it is essential to be clear about the criteria for suspecting a genetic disease and where it should be referred for study. MATERIAL AND METHODS: Four scientific societies: the Spanish Society of Family and Community Medicine (semFYC), the Spanish Association of Human Genetics (AEGH), the Spanish Association of Pediatrics (AEP) and the Spanish Society of Medical Oncology (SEOM), have reviewed the criteria for referral to the clinical genetics services of the different published guidelines with the purpose of define the recommendations for PC. CONCLUSIONS: With this consensus document, the PC doctor and pediatrician will know when, how and where to refer their patients with hereditary and/or genetic pathology to clinical genetics services.