• Atencion primaria · Dec 2022

    Practice Guideline

    [Referral criteria to clinical genetics from primary care: Consensus document].

    • Ismael Ejarque Doménech, Purificación Marín Reina, Sixto García-Miñaur Rica, Isabel Chirivella González, María Teresa Martínez Martínez, Ana María García Rodríguez, Sara Álvarez de Andrés, and Juan José Tellería Orriols.
    • Centro de Salud de Almácera, Valencia, Valencia, España; Consulta de Genética Clínica, Hospital Vithas Aguas Vivas, Alzira, Valencia, España. Electronic address: ejarque_ism@gva.es.
    • Aten Primaria. 2022 Dec 1; 54 (12): 102501102501.

    IntroductionPrimary 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 MethodsFour 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.ConclusionsWith 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.Copyright © 2022 The Authors. Publicado por Elsevier España, S.L.U. All rights reserved.

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