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社区环境中的遗传咨询与检测:质量、可及性与效率

Genetic Counseling and Testing in a Community Setting: Quality, Access, and Efficiency.

作者信息

Cohen Stephanie A, Bradbury Angela, Henderson Vida, Hoskins Kent, Bednar Erica, Arun Banu K

机构信息

1 Cancer Genetics Risk Assessment Program, Ascension St. Vincent, Indianapolis, IN.

2 Department of Medicine, Division of Hematology-Oncology, Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA.

出版信息

Am Soc Clin Oncol Educ Book. 2019 Jan;39:e34-e44. doi: 10.1200/EDBK_238937. Epub 2019 May 17.

DOI:10.1200/EDBK_238937
PMID:31099680
Abstract

There is an increasing need for genetic counseling and testing for individuals diagnosed with cancer, as treatment may be affected by the results. In addition, the identification of individuals before a diagnosis of cancer allows for optimal surveillance and early detection and prevention of cancer. With the recognition that as much as 10% of all cancers are hereditary, there is a growing need to improve access to genetic counseling and genetic testing, both before and at the time of diagnosis. This article focuses on models of identifying at-risk patients, including underserved communities; providing genetic counseling and testing in community practices; using telehealth; and collaborating with nongenetics health care providers and technological solutions to maximize efficiency and access.

摘要

对于被诊断患有癌症的个体而言,基因咨询和检测的需求日益增加,因为治疗可能会受到检测结果的影响。此外,在癌症诊断之前识别个体,有助于进行最佳监测以及癌症的早期发现和预防。鉴于认识到所有癌症中多达10%是遗传性的,在诊断前及诊断时改善基因咨询和基因检测的可及性的需求日益增长。本文重点关注识别高危患者的模式,包括服务不足的社区;在社区医疗机构提供基因咨询和检测;使用远程医疗;以及与非遗传学医疗服务提供者合作并采用技术解决方案,以实现效率最大化和可及性提升。

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