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为患者安排医学遗传学咨询和遗传咨询。

Referring patients for a medical genetics consultation and genetic counseling.

作者信息

Sutton Reid

机构信息

Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Tex., USA.

出版信息

Adv Otorhinolaryngol. 2011;70:25-27. doi: 10.1159/000322467. Epub 2011 Feb 24.

DOI:10.1159/000322467
PMID:21358181
Abstract

Clinical geneticists and genetic counselors provide diagnosis and counseling for genetic disorders affecting every organ system and every age group. Genetic counselors are more focused on informing patients and families about the inheritance of a genetic disorder and providing recurrence risk counseling, support and information about a diagnosis and reproductive options. Medical geneticists may also share some of these roles in addition to establishing a diagnosis and providing medical management. Medical Geneticists receive training in ACGME-accredited residency programs and are certified by the American Board of Medical Genetics. Genetic counseling is a masters degree program and certification is granted by the American Board of Genetic Counseling. When a patient/family is referred to a Clinical Geneticist, they may expect a thorough evaluation in an effort to establish a diagnosis that may provide information about etiology, prognosis, therapy and recurrence risk.

摘要

临床遗传学家和遗传咨询师为影响各个器官系统和各个年龄组的遗传疾病提供诊断和咨询服务。遗传咨询师更专注于向患者及其家属告知遗传疾病的遗传方式,并提供复发风险咨询、支持以及有关诊断和生殖选择的信息。医学遗传学家除了进行诊断和提供医疗管理外,也可能承担其中一些职责。医学遗传学家接受美国毕业后医学教育认证委员会(ACGME)认可的住院医师培训项目,并获得美国医学遗传学委员会的认证。遗传咨询是一个硕士学位项目,由美国遗传咨询委员会授予认证。当患者/家属被转介给临床遗传学家时,他们可以期待得到全面评估,以努力做出诊断,该诊断可能会提供有关病因、预后、治疗和复发风险的信息。

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