McCuaig Jeanna M, Armel Susan Randall, Care Melanie, Volenik Alexandra, Kim Raymond H, Metcalfe Kelly A
Familial Cancer Clinic, Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 2M9, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
Cancers (Basel). 2018 Nov 13;10(11):435. doi: 10.3390/cancers10110435.
The combination of increased referral for genetic testing and the current shortage of genetic counselors has necessitated the development and implementation of alternative models of genetic counseling and testing for hereditary cancer assessment. The purpose of this scoping review is to provide an overview of the patient outcomes that are associated with alternative models of genetic testing and genetic counseling for hereditary cancer, including germline-only and tumor testing models. Seven databases were searched, selecting studies that were: (1) full-text articles published ≥2007 or conference abstracts published ≥2015, and (2) assessing patient outcomes of an alternative model of genetic counseling or testing. A total of 79 publications were included for review and synthesis. Data-charting was completed using a data-charting form that was developed by the study team for this review. Seven alternative models were identified, including four models that involved a genetic counselor: telephone, telegenic, group, and embedded genetic counseling models; and three models that did not: mainstreaming, direct, and tumor-first genetic testing models. Overall, these models may be an acceptable alternative to traditional models on knowledge, patient satisfaction, psychosocial measures, and the uptake of genetic testing; however, particular populations may be better served by traditional in-person genetic counseling. As precision medicine initiatives continue to advance, institutions should consider the implementation of new models of genetic service delivery, utilizing a model that will best serve the needs of their unique patient populations.
基因检测转诊增加与当前遗传咨询师短缺的情况相结合,使得有必要开发并实施用于遗传性癌症评估的基因咨询和检测替代模式。本范围综述的目的是概述与遗传性癌症基因检测和基因咨询替代模式相关的患者结局,包括仅进行种系检测和肿瘤检测模式。检索了七个数据库,选择的研究需满足:(1)2007年及以后发表的全文文章或2015年及以后发表的会议摘要,以及(2)评估基因咨询或检测替代模式的患者结局。总共纳入79篇出版物进行综述和综合分析。使用研究团队为此综述开发的数据图表形式完成数据图表制作。确定了七种替代模式,其中四种模式涉及遗传咨询师:电话咨询、远程基因咨询、小组咨询和嵌入式基因咨询模式;另外三种模式不涉及:主流化、直接检测和肿瘤优先基因检测模式。总体而言,这些模式在知识水平、患者满意度、心理社会指标和基因检测接受度方面可能是传统模式的可接受替代方案;然而,特定人群可能更适合传统的面对面基因咨询。随着精准医学计划的不断推进,机构应考虑实施新的基因服务提供模式,采用最能满足其独特患者群体需求的模式。