Schneider Jennifer L, Firemark Alison J, Gille Sara, Davis James, Pawloski Pamala A, Liang Su-Ying, Epstein Mara M, Lowery Jan, Lu Christine Y, Sharaf Ravi N, Burnett-Hartman Andrea N, Schlieder Victoria, Salvati Zachary M, Cragun Deborah, Rahm Alanna Kulchak, Hunter Jessica Ezzell
Kaiser Permanente Center for Health Research, 3800 N Interstate Ave, 97227, Portland, OR, USA.
HealthPartners Institute, Bloomington, MN, USA.
Hered Cancer Clin Pract. 2023 Nov 17;21(1):24. doi: 10.1186/s13053-023-00270-4.
Lynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC). Universal tumor screening (UTS) of newly diagnosed CRC cases is recommended to aid in diagnosis of LS and reduce cancer-related morbidity and mortality. However, not all health systems have adopted UTS processes and implementation may be inconsistent due to system and patient-level complexities.
To identify barriers, facilitators, and suggestions for improvements of the UTS process from the patient perspective, we conducted in-depth, semi-structured interviews with patients recently diagnosed with CRC, but not screened for or aware of LS. Patients were recruited from eight regionally diverse US health systems. Interviews were conducted by telephone, 60-minutes, audio-recorded, and transcribed. An inductive, constant comparative analysis approach was employed. RESULTS: We completed 75 interviews across the eight systems. Most participants were white (79%), about half (52%) were men, and the mean age was 60 years. Most self-reported either no (60%) or minimal (40%) prior awareness of LS. Overall, 96% of patients stated UTS should be a routine standard of care for CRC tumors, consistently citing four primary motivations for wanting to know their LS status and engage in the process for LS identification: "knowledge is power"; "family knowledge"; "prevention and detection"; and "treatment and surveillance." Common concerns pertaining to the process of screening for and identifying LS included: creating anticipatory worry for patients, the potential cost and the accuracy of the genetic test, and possibly having one's health insurance coverage impacted by the LS diagnosis. Patients suggested health systems communicate LS results in-person or by phone from a trained expert in LS; offer proactive verbal and written education about LS, the screening steps, and any follow-up surveillance recommendations; and support patients in communicating their LS screening to any of their blood relatives.
Our qualitative findings demonstrate patients with CRC have a strong desire for healthcare systems to regularly implement and offer UTS. Patients offer key insights for health systems to guide future implementation and optimization of UTS and other LS screening programs and maximize diagnosis of individuals with LS and improve cancer-related surveillance and outcomes.
Not available: not a clinical trial.
林奇综合征（LS）是遗传性结直肠癌（CRC）最常见的病因。建议对新诊断的CRC病例进行普遍肿瘤筛查（UTS），以协助LS的诊断，并降低癌症相关的发病率和死亡率。然而，并非所有卫生系统都采用了UTS流程，由于系统和患者层面的复杂性，实施可能并不一致。
为了从患者角度识别UTS流程的障碍、促进因素和改进建议，我们对最近诊断为CRC但未进行LS筛查或知晓LS的患者进行了深入的半结构化访谈。患者从美国八个地域不同的卫生系统中招募。访谈通过电话进行，时长60分钟，进行录音并转录。采用归纳性的持续比较分析方法。
我们在八个系统中完成了75次访谈。大多数参与者为白人（79%），约一半（52%）为男性，平均年龄为60岁。大多数人自我报告之前对LS没有（60%）或仅有极少（40%）的了解。总体而言，96%的患者表示UTS应该成为CRC肿瘤的常规护理标准，并一致列举了想要了解自己LS状态并参与LS识别过程的四个主要动机：“知识就是力量”；“家族了解”；“预防与检测”；以及“治疗与监测”。与LS筛查和识别过程相关的常见担忧包括：给患者造成预期焦虑、基因检测的潜在成本和准确性，以及LS诊断可能对健康保险覆盖范围产生的影响。患者建议卫生系统由LS方面的专业人员亲自或通过电话传达LS检测结果；提供关于LS、筛查步骤以及任何后续监测建议的主动口头和书面教育；并支持患者将其LS筛查情况告知任何有血缘关系的亲属。
我们的定性研究结果表明，CRC患者强烈希望医疗保健系统定期实施并提供UTS。患者为卫生系统提供了关键见解，以指导UTS及其他LS筛查项目的未来实施和优化，并最大限度地提高LS患者的诊断率，改善癌症相关监测及结果。
不可用：非临床试验。
