在亚太/中东地区开发远程遗传学项目。

S. Dawood, A. Dhar, Poonam Sharma, L. Kini
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引用次数: 3

摘要

15背景:BRCA突变正在成为PARPi的不可知标记。由于缺乏人力和提供遗传咨询的机构,遗传咨询的可及性受到限制。我们的目标是研究印度/阿联酋致病性种系突变的发生率,并开发一种虚拟途径,旨在增加遗传咨询的可用性。方法:在阿联酋和印度对864名患者进行种系突变检测。根据医生和患者之间的讨论,确定了对基因咨询的迫切需求。为那些因个人或家族恶性肿瘤史而寻求基因咨询的人构建了一个虚拟平台(远程遗传学)。患者的转诊是基于自身或通过治疗医生进行的。主要目标包括1)方便患者进入,2)提高对基因检测的适应症、影响和后果的理解,3)减少医生在诊所的时间。提出了10个问题来确定pt和医生满意度。结果:241例(28.9%)患者存在BRCA1/BBRCA致病性变异。115名患者参加了远程遗传学项目的试点阶段;所有医生转诊。咨询由受过专门培训的遗传顾问通过语音电话(43.5%)、视频会议(47.8%)或在要求时亲自进行(8.7%)。所有患者都完成了满意度调查。大多数受试者对在虚拟平台上共享信息感到满意(80%),对虚拟连接的质量感到满意(85%),并对与遗传顾问的连接感到满意(90%)。目前正在从转诊医生那里收集信息。结论:我们正在进行的试点阶段显示,患者满意度和对所提供信息的理解有所提高。已经开发了一个移动应用程序,以增强pt的可访问性/便利性和医生的连接,该应用程序的测试阶段正在进行中。据我们所知,这是第一个针对中东/亚太地区的远程遗传学项目,旨在应对pt数量的增加,扩大适当的转诊,从有个人或家族癌症史的pt开始,随着时间的推移,扩展到更复杂的高风险疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Development of a telegenetics program in the Asia-Pacific/Middle East region.
15 Background: BRCA mutations is emerging as an agnostic marker for PARPi. Accessibility to genetic counselling is limited due to shortage of manpower and access to institutions that provide it. Our aim was to look at the incidence of pathogenic germline mutations in India/UAE and develop a virtual pathway, aimed at increasing accessibility to genetic counselling. Methods: 864 patients(pts) were tested in the UAE and India for germline mutations. Based on discussion between physicians and patients, an urgent need for genetic counseling was identified. A virtual platform (telegenetics) was constructed for those who sought genetic counseling due to a personal or family history of malignancies. Referral of pts was either self-based or through a treating physician. Primary goals included 1) ease of access for pts, 2) increase comprehension of the indications, implications and consequences of genetic testing, 3) decrease physician time in the clinic. 10 questions were developed determine pt and physician satisfaction. Results: 241(28.9%)pts had a pathogenic variant in BRCA1/BRCA. 115pts were enrolled in the pilot phase of the tele genetics program; all physician referred. Counselling was by a dedicated trained genetic counsellor through voice-call(43.5%), video-conferencing(47.8%) or in person when requested (8.7%). All pts completed a satisfaction survey. Majority of pts were comfortable sharing information on a virtual platform(80%), were happy with the quality of virtual connection(85%), and felt comfortable connecting with the genetic counselor(90%). Information is currently being collected from referring physicians. Conclusions: Our ongoing pilot phase reveals improved pt satisfaction and understanding of the information provided. A mobile application has been developed to enhance pt accessibility/convenience and physician connectivity with the testing phase of the app currently on going. To our knowledge this is the first tele genetics program to target the middle east/Asia pac region that is targeted to cope with increase in pt volumes, expand appropriate referrals, starting with pts who have a personal or family history of cancers, expanding to more complex high risk diseases over time.
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来源期刊
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审稿时长
20 weeks
期刊介绍: The Journal of Global Oncology (JGO) is an online only, open access journal focused on cancer care, research and care delivery issues unique to countries and settings with limited healthcare resources. JGO aims to provide a home for high-quality literature that fulfills a growing need for content describing the array of challenges health care professionals in resource-constrained settings face. Article types include original reports, review articles, commentaries, correspondence/replies, special articles and editorials.
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