Cleveland Clinic, Cleveland, Ohio, USA
Cleveland Clinic, Cleveland, Ohio, USA.
J Med Genet. 2021 Dec;58(12):807-814. doi: 10.1136/jmedgenet-2020-107294. Epub 2020 Nov 9.
Hereditary colorectal cancer (HCRC) syndromes account for 10% of colorectal cancers but remain underdiagnosed. This feasibility project tested the utility of an artificial intelligence-based chatbot deployed to patients scheduled for colonoscopy to identify HCRC risk factors, educate participants about HCRC and obtain consent to genetic testing as an extension of genetic counselling of appropriate subjects. Genetic counsellor (GC) and genetic counselling assistant (GCA) time spent per subject was also measured.
Patients scheduled for colonoscopy at Cleveland Clinic were invited via electronic medical record patient portal or letter prior to colonoscopy with a link to a chatbot administering the Colon Cancer Risk Assessment Tool (CCRAT) to screen for HCRC syndromes. Those with ≥1 positive response to a CCRAT question received chatbot-deployed genetic education and the option to receive genetic testing. An order for a 55-gene pan-cancer panel was placed for those consenting, and the subject had blood drawn on the day of colonoscopy. Results were disclosed by a GC or GCA by telephone. Subject demographics, progression through the chat, responses to CCRAT, personal and family history, genetic test results and communication with the subject were recorded. Descriptive statistics and two-tailed unpaired t-test and Fisher's exact test were used.
506/4254 (11.9%) initiated and 487 (96.2%) completed the chat with the chatbot. 215 (44.1%) answered 'yes' to ≥1 CCRAT question and all completed pretest education. 129/181 (71.3%) subjects who consented completed testing, and 12 (9.3%) were found to have a germline pathogenic variant. Per subject, the GC spent a mean of 14.3 (SD 7.3) and the GCA a mean of 19.2 (SD 9.8) minutes.
The use of a chatbot in this setting was a novel and feasible method, with the potential of increasing genetic screening and testing in individuals at risk of HCRC syndromes.
遗传性结直肠癌（HCRC）综合征占结直肠癌的 10%，但仍未得到充分诊断。本可行性研究项目测试了一种基于人工智能的聊天机器人在 scheduled for colonoscopy 的患者中应用的效用，以识别 HCRC 风险因素，向参与者教育 HCRC 知识，并在适当的受试者中获得基因检测的同意，作为基因咨询的延伸。还测量了每位受试者的遗传咨询师（GC）和遗传咨询助理（GCA）的时间。
克利夫兰诊所预约结肠镜检查的患者在结肠镜检查前通过电子病历患者门户或信件收到邀请，链接到一个聊天机器人，该机器人管理结直肠癌风险评估工具（CCRAT）以筛查 HCRC 综合征。那些对 CCRAT 问题有≥1 个阳性反应的人接受聊天机器人部署的基因教育，并选择接受基因检测。对于同意的人，会下达一个 55 基因泛癌面板的订单，并且在结肠镜检查当天采集血液。GC 或 GCA 通过电话透露结果。记录了受试者的人口统计学特征、通过聊天的进展、对 CCRAT 的反应、个人和家族史、基因检测结果以及与受试者的沟通。使用描述性统计和双侧非配对 t 检验和 Fisher 精确检验。
506/4254（11.9%）开始并完成了与聊天机器人的聊天，487（96.2%）完成了聊天。215（44.1%）对≥1 个 CCRAT 问题回答“是”，并且所有人都完成了预测试教育。在同意的 181 人中，有 129/181（71.3%）人完成了测试，发现 12（9.3%）人有胚系致病性变异。每位受试者，GC 平均花费 14.3（SD 7.3）分钟，GCA 平均花费 19.2（SD 9.8）分钟。
在这种情况下使用聊天机器人是一种新颖且可行的方法，有可能增加 HCRC 综合征风险个体的遗传筛查和检测。
