通过种系基因检测诊断Lynch和其他遗传性结直肠癌(CRC)综合征对治疗和风险管理具有重要意义。然而,指南推荐的遗传咨询转诊和就诊并不理想.
我们的团队开发了一个适应性的患者导航程序-遗传咨询途径-以解决遗传咨询转诊和接收的多层次障碍。本文介绍了一项随机对照试验(RCT)的方法,该方法测试了遗传咨询途径在增加华盛顿大学医学卫生系统中遗传咨询的有效性。我们将通过结构化电子健康记录查询和手动图表审查相结合,确定有资格接受遗传咨询的CRC患者(在50岁之前或在任何年龄诊断有遗传性错配修复缺陷的证据)。患者将在同意之前以1:1随机分配,并照常接受护理(无接触)或被邀请参与患者导航。我们将使用图表审查来比较随机分组后六个月内遗传咨询转诊和出勤率,不管病人参与导航。我们计划从2021年底开始,在9个月内识别并随机分配161名符合条件的CRC患者。
我们务实的RCT设计将提供有关患者导航潜力的实际数据,以解决预防性基因组医学中长期存在的护理差距。如果有效,我们希望在更多的环境中试行遗传咨询途径,其长期目标是改善遗传性CRC综合征的适当诊断和随后对合格家庭成员的级联筛查.
Diagnosis of Lynch and other hereditary colorectal cancer (CRC) syndromes through germline genetic testing has important implications for treatment and risk-management, yet guideline-recommended genetic counseling referral and attendance is suboptimal.
Our team developed an adapted patient navigation program-Pathways to Genetic Counseling-to address multilevel barriers to genetic counseling referral and receipt. This paper describes the methods of a randomized controlled
trial (RCT) testing Pathways to Genetic Counseling\'s effectiveness at increasing genetic counseling attendance in the University of Washington Medicine health system. We will identify CRC patients eligible for genetic counseling (diagnosed before age 50 or at any age with evidence of inherited mismatch repair deficiency) through a combination of structured electronic health record queries and manual chart review. Patients will be randomized 1:1 prior to consent and receive either care as usual (no contact) or be invited to participate in patient navigation. We will use chart review to compare rates of genetic counseling referral and attendance within six months of randomization, regardless of patients\' engagement with navigation. We plan to identify and randomize 161 eligible CRC patients over a nine-month period beginning in late 2021.
Our pragmatic RCT design will provide real-world data on the potential for patient navigation to address longstanding care gaps in preventive genomic medicine. If effective, we hope to pilot Pathways to Genetic Counseling in additional settings with a long-term goal of improving appropriate diagnosis of hereditary CRC syndromes and subsequent cascade screening of eligible family members.