精准医疗效率低下:遗传咨询师(GC)能解决问题吗?亚洲首个gc主导的癌症遗传学服务的经验。

IF 3.7 2区 医学 Q2 GENETICS & HEREDITY
Jeanette Yuen, Shao-Tzu Li, Eliza Kate Courtney, Manasadevi Karthikeyan, Tasmyn Scriven, Nur Diana Binte Ishak, Hui Xuan Goh, Tiffany Lim, Zewen Zhang, Jianbang Chiang, Ravindran Kanesvaran, Rebecca Dent, Joanne Ngeow
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引用次数: 0

摘要

目的:基因检测(GT)在指导癌症治疗、风险管理和预防方面的应用推动了对癌症遗传服务的需求。遗传咨询师(GCs)的全球短缺导致了主流化模式。我们评估了亚洲首个由gc主导的服务的结果,将其作为主流化的潜在模式。方法:对2013年至2023年该院收治的患者进行回顾性分析。提取了与患者咨询、GT摄取和确定的致病变异携带者相关的输出数据。进度图概述了在消除障碍、改进吸收和提供服务方面所作的努力。结果:对GT的需求增加了18倍。从2020年起,这一比例从27%上升到平均81%,没有任何不当行为记录。携带者检出率从2015年的16%上升到19-25%。GT的成本显著降低。常见遗传性癌症易感性综合征的转诊途径已经实施。每年都会为运营商举办支持小组活动。结论:我们的研究结果突出了gc主导的主流化模型的可行性和成功性,该模型安全且可扩展。GCs在满足GT需求的同时,在心理社会上支持携带者,比医生更省时、更经济。为了满足全球对GT的需求,扩大GC员工队伍应该是一个优先事项。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Inefficiencies in precision medicine: can genetic counsellors (GC) be the solution? The experience from the first GC-led cancer genetics service in Asia.

Purpose: The utility of genetic testing (GT) to guide cancer treatment, risk management and prevention has driven the demand for cancer genetic services. The global shortage of genetic counsellors (GCs) has led to the mainstreaming model. We evaluate the outcomes of the first GC-led service in Asia as a potential model for mainstreaming.

Methods: A retrospective review of patients managed by the service from 2013 to 2023 was conducted. Output data relevant to patient consultations, GT uptake and pathogenic variant carriers identified were extracted. A progress chart outlines the efforts made in addressing barriers, improving uptake and service delivery.

Results: Demand for GT has increased 18-fold. Uptake grew from 27% to an average of 81% from 2020, with no misconduct recorded. Carrier detection rate rose from 16% to 19-25% from 2015. The cost of GT has reduced significantly. Referral pathways for common hereditary cancer predisposition syndromes have been implemented. Support group events are held annually for carriers.

Conclusion: Our findings highlight the feasibility and success of a GC-led mainstreaming model that is safe and scalable. GCs are more time and cost-efficient than doctors in meeting GT demands while supporting carriers psychosocially. Expanding the GC workforce should be a priority in meeting the global demand for GT.

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来源期刊
Journal of Medical Genetics
Journal of Medical Genetics 医学-遗传学
CiteScore
7.60
自引率
2.50%
发文量
92
审稿时长
4-8 weeks
期刊介绍: Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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