Tulane University School of Medicine, New Orleans, LA, USA;, Emory University School of Medicine, Atlanta, GA, USA.
Tulane University School of Medicine, New Orleans, LA, USA;, Eastern Virginia Medical School, Norfolk, VA, USA.
Clin Transl Gastroenterol. 2018 Sep 20;9(9):185. doi: 10.1038/s41424-018-0047-y.
Although widely recommended, Lynch syndrome (LS) testing with tumor microsatellite instability (MSI) and/or immunohistochemistry (IHC) is infrequently performed in early-onset colorectal cancer (CRC), and CRC generally. Reasons are poorly understood. Hence, we conducted a national survey focusing on gastroenterologists, as they are frequently first to diagnose CRC, assessing testing barriers and which specialist is felt responsible for ordering MSI/IHC. Additionally, we assessed factors influencing timing of MSI/IHC ordering; testing on colonoscopy biopsy, opposed to post-operative surgical specimens, assists decisions on preoperative germline genetic testing and extent of colonic resection (ECR).
A 21-question web-based survey was distributed through an American College of Gastroenterology email listing.
In total 509 completed the survey. 442 confirmed gastroenterologists were analyzed. Only 33.4% felt gastroenterologists were responsible for MSI/IHC ordering; pathologists were believed most responsible (38.6%). Cost, unfamiliarity interpreting results and unavailable genetic counseling most commonly prevented routine ordering (33.3%, 29.2%, 24.9%, respectively). In multivariable analysis, non-academic and rural settings were associated with cost and genetic counseling barriers. Only 46.1% felt MSI/IHC should always be performed on colonoscopy biopsy. Guideline familiarity predicted whether respondents felt surgical resection should be delayed until results returned given potential effect on ECR decisions.
Inconsistencies in who is felt should order MSI/IHC may lead to diffusion of responsibility, preventing consistent testing, including preoperatively. Assuring institutional universal testing protocols are in place, with focus on timing of testing, can optimize care. Strategies addressing cost barriers and genomic service availability in rural and non-academic settings can enhance testing. Greater emphasis on guideline familiarity is required.
尽管广泛推荐,但在早发性结直肠癌(CRC)和一般 CRC 中,肿瘤微卫星不稳定性(MSI)和/或免疫组织化学(IHC)的林奇综合征(LS)检测很少进行。原因尚不清楚。因此,我们进行了一项全国性调查,重点关注胃肠病学家,因为他们通常是最早诊断 CRC 的人,评估检测障碍以及哪位专家负责订购 MSI/IHC。此外,我们评估了影响 MSI/IHC 订购时间的因素;在结肠镜检查活检上进行检测,而不是在术后手术标本上进行检测,有助于决定术前种系基因检测和结肠切除范围(ECR)。
通过美国胃肠病学会电子邮件列表分发了一个包含 21 个问题的在线调查。
共有 509 人完成了调查。对 442 名确认的胃肠病学家进行了分析。只有 33.4%的人认为胃肠病学家负责 MSI/IHC 订购;病理学家被认为最负责(38.6%)。成本、不熟悉解读结果和缺乏遗传咨询是最常见的常规订购障碍(分别为 33.3%、29.2%和 24.9%)。在多变量分析中,非学术和农村环境与成本和遗传咨询障碍相关。只有 46.1%的人认为 MSI/IHC 应始终在结肠镜检查活检上进行。指南熟悉度预测了受访者是否认为应该在结果返回后延迟手术切除,因为这可能会影响 ECR 决策。
谁应该订购 MSI/IHC 的意见不一致可能导致责任扩散,从而阻止包括术前在内的一致检测。确保机构普遍采用测试协议,并重点关注测试时间,可以优化护理。在农村和非学术环境中解决成本障碍和基因组服务可用性的策略可以增强检测。需要更加重视指南熟悉度。