Cancer Risk and Prevention Program, Maine Medical Center, Scarborough, ME, USA.
Maine-Dartmouth Family Medicine Residency, MaineGeneral Health, Augusta, ME, USA.
Transl Behav Med. 2018 May 23;8(3):450-455. doi: 10.1093/tbm/ibx078.
Lynch syndrome (LS) identification leads to improved health outcomes. Universal tumor screening (UTS) facilitates LS identification among colorectal cancer (CRC) and uterine cancer (UC) cases; institutional management affects screening program implementation and outcomes. There has been limited study of institutional UTS program care coordination needs, including patient navigation of genetic counseling referrals. We examined the influence of patient navigators on access to cancer genetic services among LS UTS screen-positive cases within a single institution. Electronic health record review of screen-positive CRC and UC cases for a 12-month period assessed the relationship between patient navigation and follow-through to genetic services. Among 451 newly diagnosed CRC (n = 175) and UC (n = 276) cases, 96 (21%; 28 CRC/68 UC cases) had abnormal UTS results. Among these, 66 (69%) showed MLH1 promoter hypermethylation (i.e., screen-negative). Of 30 screen-positive cases, 16 (53%) received navigation services. Among these, 14/16 (88%) and 13/14 (81%) underwent genetic counseling and testing, respectively; 7/13 (54%) had pathogenic or likely pathogenic variants detected. Among non-navigated screen-positive patients, 2/14 (14%) were excluded due to incomplete UTS results. Five of the remaining 12 cases (42%) sought genetic counseling, 4/12 (33%) underwent genetic testing; 1/4 (25%) tested positive for a pathogenic variant. The difference in navigated (88%) versus non-navigated cases (42%) undergoing genetic counseling was statistically significant (p = .02). Patient navigation was associated with follow-through to genetic counseling and testing services among LS screen-positive cases. This model deserves additional prospective investigation to confirm these findings and to assess their generalizability.
林奇综合征（LS）的鉴定可改善健康结果。广泛的肿瘤筛查（UTS）有助于在结直肠癌（CRC）和子宫癌（UC）病例中鉴定 LS；机构管理影响筛查计划的实施和结果。对于机构 UTS 计划的护理协调需求，包括患者遗传咨询转介的导航，研究有限。我们研究了患者导航员对单一机构内 LS UTS 筛查阳性病例获得癌症遗传服务的影响。对 12 个月期间的筛查阳性 CRC 和 UC 病例进行电子健康记录审查，评估了患者导航与遗传服务的跟进之间的关系。在 451 例新诊断的 CRC（n = 175）和 UC（n = 276）病例中，96 例（21%；28 例 CRC/68 例 UC 病例）有异常 UTS 结果。其中，66 例（69%）显示 MLH1 启动子甲基化（即筛查阴性）。在 30 例筛查阳性病例中，有 16 例（53%）接受了导航服务。其中，14/16（88%）和 13/14（81%）分别接受了遗传咨询和检测；7/13（54%）检测到致病性或可能致病性变异。在未接受导航的筛查阳性患者中，由于 UTS 结果不完整，有 2/14（14%）被排除。在其余的 12 例中，有 5 例（42%）寻求遗传咨询，12/12（100%）进行了基因检测；4/4（100%）检测到致病性变异。接受导航的病例（88%）与未接受导航的病例（42%）在接受遗传咨询方面的差异具有统计学意义（p =.02）。患者导航与 LS 筛查阳性病例遗传咨询和检测服务的跟进相关。这种模式值得进一步进行前瞻性研究，以确认这些发现并评估其普遍性。
