Henrikson Nora B, Jonas M Cabell, Blasi Paula R, Buchanan Adam H, Suwannarat Pim, Leppig Kathleen, Scrol Aaron, Leitzel Tracey, Deneal Adrienne N, Canedo Daniela, Ramaprasan Arvind, Basra Sundeep S, Brown Jennifer, Odums Marilyn, Hu Yirui, Romagnoli Katrina M, Khieu Estella, Balton Elsa, Patel Saumya, Kunnmann Muki, Hassen Dina, Hao Jing, Lewis Meredith, Schwiter Rachel, Goehringer Jessica, Ramey Heather M, Gustafson Shanshan, Hsieh Katrina, Ladd Ilene, Rahm Alanna K
Kaiser Permanente Washington Health Research Institute, 1730 Minor Ave, Suite 1360, Seattle, WA 98101, USA.
Mid-Atlantic Permanente Research Institute, 700-B 2nd Street NE, Washington, DC 20002, USA.
Cancers (Basel). 2025 Mar 29;17(7):1154. doi: 10.3390/cancers17071154.
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.
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.
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.
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.
追溯检测——识别并为之前被诊断患有癌症但尚未接受当前标准基因检测的人群提供检测——可能会使患者及其有风险的亲属受益。
我们在美国三个综合医疗系统中开展了一项多地点、非随机的追溯项目试点实施研究。我们使用定量和定性方法评估了该项目的覆盖范围、保真度、有效性和可接受性。
我们通过行政数据和人工病历审查确定了597名符合条件的个体。我们试图联系到每一个被确定的人（保真度为100%）。我们成功联系到了354人，占已确认符合条件个体的59%。总共有133人完成了追溯基因检测。其中10人（8%）获得了致病或可能致病的结果；这10人中的9人获得了阳性结果，提示应对有风险的亲属进行级联检测。在研究期间，他们的亲属均未接受级联检测。36人获得了意义不明确的变异（VUS）。追溯项目为参与者和实施者所接受，并被认为适用于其他基因筛查情况。准确识别符合追溯条件个体所需的时间和资源可能是未来可持续性的决定因素。
在这项试点研究中，关于免费级联检测的教育、对先证者的提醒电话以及直接联系有风险亲属的提议并未导致级联检测。然而，参与者和实施者的讨论表明，追溯项目的潜在益处和较高的参与者接受度值得进一步研究。
