Cohen Stacey A, Laurino Mercy, Bowen Deborah J, Upton Melissa P, Pritchard Colin, Hisama Fuki, Jarvik Gail, Fichera Alessandro, Sjoding Britta, Bennett Robin L, Naylor Lorraine, Jacobson Angela, Burke Wylie, Grady William M
Division of Oncology, University of Washington, Seattle, Washington.
Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Cancer. 2016 Feb 1;122(3):393-401. doi: 10.1002/cncr.29758. Epub 2015 Oct 19.
Lynch syndrome confers a hereditary predisposition to colorectal and other cancers. Universal tumor screening (UTS) for Lynch syndrome is recommended by several professional societies, but the implementation can be complex. This article describes the evaluation, process development, and initiation of Lynch syndrome UTS at a tertiary referral cancer center.
A multidisciplinary team developed the new process design. Issues in 5 themes were noted: timing, funding, second-opinion patients, result processing, and the role of genetics providers. A committee approach was used to examine each issue for process-improvement development.
The issues related to testing were addressed individually for the successful implementation of UTS at the institutional level. In the conventional-care period, 9 of 30 cases (30%) received Lynch syndrome screening, and 4 cases were referred to medical genetics. During the 6 months following the implementation of UTS, 32 of 44 patients (73%) received Lynch syndrome screening. The 13 unscreened patients all had identified reasons for nonscreening (eg, financial limitations). Ten patients were referred to medical genetics, which identified no new cases of Lynch syndrome, but a low-risk adenomatous polyposis coli (APC) variant was detected in 1 individual.
The implementation of effective Lynch syndrome UTS can feasibly alter practice at the institutional level. This experience with the assessment and management of issues relevant to the successful implementation of a new clinical care paradigm based on emerging technology has implications for the uptake of advances across molecular oncology into clinical practice, and this is highly relevant in the current era of rapidly evolving genomic technology.
林奇综合征赋予结直肠癌和其他癌症的遗传易感性。多个专业学会推荐对林奇综合征进行普遍肿瘤筛查（UTS），但其实施可能很复杂。本文描述了在一家三级转诊癌症中心对林奇综合征UTS的评估、流程制定和启动情况。
一个多学科团队制定了新的流程设计。记录了5个主题中的问题：时机、资金、二次诊断患者、结果处理以及遗传学提供者的作用。采用委员会方法检查每个问题以进行流程改进。
针对检测相关问题分别进行处理，以在机构层面成功实施UTS。在传统护理期间，30例中有9例（30%）接受了林奇综合征筛查，4例被转诊至医学遗传学。在实施UTS后的6个月内，44例患者中有32例（73%）接受了林奇综合征筛查。13例未筛查患者均有明确的未筛查原因（如经济限制）。10例患者被转诊至医学遗传学，未发现林奇综合征新病例，但在1例个体中检测到低风险的腺瘤性息肉病（APC）变异。
有效实施林奇综合征UTS可以在机构层面切实改变医疗实践。基于新兴技术成功实施新的临床护理模式相关问题的评估和管理经验，对将分子肿瘤学进展应用于临床实践具有启示意义，这在当前快速发展的基因组技术时代具有高度相关性。
