IMProving Care After Inherited Cancer Testing (IMPACT) Study

影响摘要 尽管遗传性癌症的基因检测取得了巨大的进步，但 这项技术不能仅通过测试来实现。相反，访问非常关键 适当的后续护理，可能包括癌症风险管理(CRM)选项 个人及其处于危险中的家庭成员。目前在执行以下方面存在的差距 基于遗传性癌症基因检测结果的遵循指南的后续护理包括 在致病和可能致病的患者中进行过度和正在治疗 (P/LP)变种或不确定意义的变种(VU)。此外，我们还遗漏了 有机会扩大检测在以下家庭成员中的接受度和影响 由于基因检测结果的家庭沟通(FC)不佳而处于高风险状态 癌症家族史。我们的高度创新和改变实践的研究旨在 改变携带P/LP变异和VU的遗传性癌症患者的模式 为基因提供信息以增强指南依从性CRM和测试的FC 结果。通过我们提出的第一类有效性-实施混合随机化 对照混合方法研究，我们将在600人的不同组中测试两种干预措施 携带P/LP变异或VUS的个体会导致多种遗传性癌症基因 哪些客户关系管理指南可用。干预A专注于增加指导方针- 坚持客户关系管理(LivingLabReport)，干预B专注于增加FC和 后续家庭测试(GeneSHARE)。在开发、提炼和测试的同时 为改善遵守指引的客户关系管理和财务报告，我们会研究 在种族、地理和社会层面实施这些干预措施 经济上不同的人口和环境。通过测试收集的信息 将利用干预措施的有效性和执行情况来制定、修改 和试点测试自适应步进式干预措施，有可能有效地最大化 改善遵循指导方针的客户关系管理和财务控制的有效性。这项跨学科的努力， 为黑人、农村居民和其他未得到充分服务的人群增加收入而富裕起来的人，将 告知政策和开发可扩展的模型，以提供基于证据的 关心。最终，我们的研究将有助于解决获取有效信息的需求 在不同的基因和环境中指导客户关系管理并增强不同人群的功能 这是非常需要的，如果广大人口要从基因组的进步中受益 这是一个个性化医疗的时代。

IMPACT Abstract Despite the tremendous advances in genetic testing for inherited cancer, the promise of this technology cannot be realized through testing alone. Rather, it is critical to access appropriate follow-up care that may include cancer risk management (CRM) options for individuals and their at-risk family members. Current gaps in implementation of guideline-adherent follow-up care based on inherited cancer genetic test results include both over and under treatment among those with pathogenic and likely pathogenic (P/LP) variants or a variant of uncertain significance (VUS). Furthermore, we are missing the opportunity to magnify the uptake and impact of testing among family members who are at high risk due to suboptimal family communication (FC) of genetic test results and cancer family history. Our highly innovative and practice-changing study is designed to shift the paradigm by which individuals with P/LP variants and VUS in inherited cancer genes are provided with information to enhance guideline-adherent CRM and FC of test results. Through our proposed type I effectiveness-implementation hybrid randomized control mixed methods study, we will test two interventions with a diverse group of 600 individuals with a P/LP variant or a VUS result in a variety of inherited cancer genes for which CRM guidelines are available. Intervention A is focused on increasing guideline- adherent CRM (LivingLabReport), and Intervention B is focused on increasing FC and subsequent family testing (GeneSHARE). Alongside developing, refining, and testing interventions to improve guideline-adherent CRM and FC, we will study the implementation of these interventions across racially, geographically, and socio- economically diverse populations and settings. The information gathered through testing effectiveness and implementation of the interventions will be used to develop, modify and pilot test adaptive stepped interventions with the potential to efficiently maximize effectiveness in improving guideline-adherent CRM and FC. This transdisciplinary effort, enriched for accrual of Blacks, rural dwellers, and other underserved populations, will inform policy and the development of scalable models for delivering evidence-based care. Ultimately, our study will help address the need for access to effective information to guide CRM and enhance FC in diverse populations across various genes and settings which is greatly needed if the population at large is to benefit from genomic advances in this era of personalized medicine.