Background:Traceback testing—identifying and offering testing to people with previous cancer diagnoses who have not received current standard genetic testing—could benefit patients and their at-risk relatives. Methods: We conducted a multisite, nonrandomized pilot implementation study of a Traceback program at three integrated United States health systems. We assessed the reach, fidelity, effectiveness, and acceptability of the program using quantitative and qualitative methods. Results: We identified 597 eligible individuals using administrative data and manual chart review. We attempted to reach everyone identified (100% fidelity). We successfully contacted 354 people, for a reach of 59% of confirmed eligible individuals. In total, 133 people completed Traceback genetic testing. Ten of these (8%) received pathogenic or likely pathogenic results;. Nine of these ten people received positive results for which cascade testing of at-risk relatives would be indicated. None of their relatives underwent cascade testing during the study period. Thirty-six received variants of uncertain significance (VUS). Traceback programs were acceptable to participants and implementers and thought to be applicable to other genetic screening conditions. The time and resources required to accurately identify Traceback-eligible individuals are likely determinants of future sustainability. Conclusions: Education about free cascade testing, reminder calls to probands, and offers to directly contact at-risk relatives did not result in cascade testing in this pilot study. However, participant and implementer discussions suggest that the potential benefits of Traceback programs and high participant acceptability are worthy of further study.
背景：追溯性检测——识别并向既往确诊癌症但未接受当前标准基因检测的患者提供检测——可能使患者及其高危亲属受益。方法：我们在美国三个综合性医疗系统中开展了一项多中心、非随机化的追溯性检测项目试点实施研究。采用定量与定性方法评估了该项目的覆盖范围、执行保真度、有效性及可接受性。结果：通过行政数据与人工病历审查，共识别出597名符合条件者。我们尝试联系所有识别对象（执行保真度100%），成功联系到354人，覆盖率达确认合格人群的59%。总计133人完成追溯性基因检测，其中10人（8%）检出致病性或可能致病性变异；这10人中有9人的阳性结果提示需对其高危亲属进行级联检测，但研究期间无亲属接受级联检测。另有36人检出意义未明变异（VUS）。参与者与实施者均认可追溯性检测项目，认为其可推广至其他遗传筛查领域。准确识别符合追溯条件个体所需的时间与资源可能是影响项目未来可持续性的关键因素。结论：在本试点研究中，关于免费级联检测的宣教、对先证者的提醒电话以及直接联系高危亲属的提议均未促成级联检测的实施。然而，参与者与实施者的讨论表明，追溯性检测项目的潜在效益及较高的参与者接受度值得进一步研究。
Implementation of a Traceback Testing Program for Ovarian Cancer: Findings from the FACTS Study
肿瘤(癌症)患者之家