IMProving Care After Inherited Cancer Testing (IMPACT) Study

IMPACT摘要 尽管遗传性癌症的基因检测取得了巨大进展， 这一技术不可能仅仅通过试验来实现。相反， 适当的后续护理，可能包括癌症风险管理（CRM）选项， 个人及其有风险的家庭成员。目前在执行《公约》方面的差距 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 在致病性和可能致病性的患者中， （P/LP）变体或不确定意义的变体（VUS）。此外，我们还缺少 有机会扩大家庭成员对检测的接受和影响， 由于基因检测结果的次优家庭沟通（FC）而处于高风险中， 癌症家族史我们高度创新和实践改变的研究旨在 改变遗传性癌症中P/LP变异和VUS个体的模式 基因被提供信息以增强测试的遵循指南的CRM和FC 结果通过我们提出的I型有效性-实现混合随机 对照混合方法研究，我们将测试两种干预措施与600个不同的组 具有P/LP变体或VUS的个体导致多种遗传性癌症基因， 哪些CRM指南可用。干预措施A的重点是增加指导方针- 坚持CRM（LivingLabReport），干预B侧重于增加FC， 基因共享（GeneSHARE）。除了开发、提炼和测试 干预措施，以改善遵循指南的CRM和FC，我们将研究 在种族、地理和社会方面实施这些干预措施， 经济上多样化的人口和环境。通过测试收集的信息 干预措施的有效性和执行情况将用于制定、修改 试点测试适应性阶梯干预措施，有可能有效地最大限度地提高 有效地改善了遵循指南的CRM和FC。这种跨学科的努力， 为黑人、农村居民和其他服务不足的人口增加财富， 为政策提供信息，并制定可扩展的模式， 在乎最终，我们的研究将有助于解决获得有效信息的需求 在不同基因和环境的不同人群中指导CRM并增强FC 这是非常需要的，如果广大人口是受益于基因组的进步， 这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.