[基层医疗向临床遗传学的转诊标准：共识文件]
[Referral criteria to clinical genetics from primary care: Consensus document].
作者信息
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
机构信息
Centro de Salud de Almácera, Valencia, Valencia, España; Consulta de Genética Clínica, Hospital Vithas Aguas Vivas, Alzira, Valencia, España.
Dismorfología y Asesoramiento Genético, Servicio de Neonatología, Hospital Universitari i Politècnic La Fe, Valencia, España.
出版信息
Aten Primaria. 2022 Dec;54(12):102501. doi: 10.1016/j.aprim.2022.102501. Epub 2022 Nov 11.
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.
引言
初级保健是患者与医生的首次接触，因此明确怀疑遗传病的标准以及应将患者转至何处进行检查至关重要。
材料与方法
四个科学学会，即西班牙家庭与社区医学学会（semFYC）、西班牙人类遗传学协会（AEGH）、西班牙儿科学会（AEP）和西班牙医学肿瘤学会（SEOM），对不同已发表指南中转诊至临床遗传学服务的标准进行了审查，目的是确定初级保健的建议。
结论
通过这份共识文件，初级保健医生和儿科医生将知道何时、如何以及将患有遗传性和/或基因病的患者转诊至何处的临床遗传学服务。
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