为接受癌症远程遗传咨询的患者提供基因检测的后勤和吸收

Kate P Shane-Carson, C. Martin
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引用次数: 0

摘要

目的:遗传性癌症远程遗传(视频会议)咨询后,缺乏关于接受基因检测的信息,此前有报道称这是这种服务提供模式的限制。方法:我们对2014年4月1日至2016年5月31日两个癌症社区中心转诊至俄亥俄州立大学(OSU)接受远程遗传咨询预约的患者的分诊名单进行了审查。结果:共有179名患者转诊接受远程遗传咨询,其中62.6%(112/179)完成了30-60分钟的远程遗传咨询。在接受咨询的人中,82.1%(92/112)完成了基因检测,其中12.0%(11/92)被发现有致病性突变。在那些有突变的人中,45.5%(5/11)返回进行后续远程遗传咨询,以更详细地审查结果。此外,18.5%(17/92)的受试患者至少有一种不确定显著性变异(VUS)。结论:与文献中以前的报道相比,在远程遗传咨询期间,护士/执业护士在远程地点与患者一起可能有助于提高基因检测的完成率,在这种提供遗传咨询的方法中,基因检测的适当性反映在识别有害突变和意义不确定的变异的结果率上。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Logistics and Uptake of Genetic Testing for Patients Referred for Telegenetic Counselling for Cancer
Purpose:  There is a dearth of information about the uptake of genetic testing after telegenetic (videoconference) counselling for hereditary cancer, which has been previously reported as a limitation of this service delivery model.  Methods:  We performed a review of the triage list for patients referred to The Ohio State University (OSU) from two community cancer centres for telegenetic counselling appointments from April 1, 2014 to May 31, 2016.  Results:  A total of 179 patients were referred for telegenetic counselling, and of   these 62.6% (112/179) completed a 30-60 minute telegenetic counselling appointment.   Of those counselled, 82.1% (92/112) completed genetic testing,    12.0% (11/92) of whom were found to have a pathogenic mutation.  Of those with mutations, 45.5% (5/11) returned for a follow-up telegenetic counselling session to review results in more detail.  In addition, 18.5% (17/92) of patients tested had at least one variant of uncertain significance (VUS). Conclusions:  The presence of a nurse/nurse practitioner with the patient at the remote site during the telegenetic counselling session may have facilitated higher completion rates for genetic testing compared to previous reports in the literature, and appropriateness of genetic testing in this method of providing genetic counselling is reflected in the rates of results identifying deleterious mutations and variants of uncertain significance.
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