IMProving Care After Inherited Cancer Testing (IMPACT) Study

遗传性癌症检测 (IMPACT) 研究后改善护理

• 批准号: 10681261
• 负责人: Deborah Le Cragun
• 金额: $ 72.05万
• 依托单位: VANDERBILT UNIVERSITY MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-09-16 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10681261
• 关键词: Address; Age; Awareness; Behavior; Behavioral; Black Populations; Caring; Characteristics; Communication; Control Groups; Data; Development; Early Diagnosis; Effectiveness; Ethnic Origin; Family; Family Cancer History; Family member; Focus Groups; Genes; Genetic Risk; Genomics; Geography; Goals; Guidelines; Hereditary Disease; Hereditary Malignant Neoplasm; Hereditary Neoplastic Syndromes; High-Risk Cancer; Individual; Inherited; Intervention; Interview; Maintenance; Malignant Neoplasms; Measures; Medical Records; Methods; Modeling; Motivation; Oncogenes; Online Systems; Operative Surgical Procedures; Outcome; Participant; Pathogenicity; Patient-Focused Outcomes; Patients; Policies; Population; Population Heterogeneity; Prevention; Public Health; Race; Randomized; Randomized, Controlled Trials; Reporting; Resources; Risk; Risk Management; Sampling; Surveys; Syndrome; Technology; Test Result; Testing; Time; Underserved Population; Variant; adaptive intervention; cancer genetics; cancer predisposition; cancer prevention; cancer risk; cancer therapy; clinical care; contextual factors; cost; design; effectiveness evaluation; effectiveness testing; effectiveness/implementation hybrid; evidence base; feasibility testing; follow-up; genetic testing; group intervention; health literacy; high risk; implementation intervention; implementation outcomes; implementation process; implementation research; improved; improved outcome; information gathering; innovation; intervention refinement; low health literacy; overtreatment; personalized medicine; pilot test; prevent; primary outcome; recruit; risk perception; rural dwellers; scale up; screening; socioeconomics; tool; uptake; variant of unknown significance; web-based intervention

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.

影响摘要 尽管遗传性癌症的基因检测取得了巨大进步，但 这项技术无法仅通过测试来实现。相反，访问至关重要 适当的后续护理，可能包括癌症风险管理 (CRM) 选项 个人及其高危家庭成员。当前实施方面的差距 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 致病性和可能致病性患者的治疗过度和治疗不足 (P/LP) 变体或意义不确定的变体 (VUS)。此外，我们还缺少 有机会扩大测试在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) 不理想而处于高风险，并且 癌症家族史。我们高度创新和改变实践的研究旨在 改变遗传性癌症中具有 P/LP 变异和 VUS 的个体的范式 向基因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 类有效性实施混合随机 对照混合方法研究，我们将在 600 人的不同群体中测试两种干预措施 具有 P/LP 变异或 VUS 的个体会产生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 和 随后的家庭测试（GeneSHARE）。除了开发、完善和测试 改善遵循指南的 CRM 和 FC 的干预措施，我们将研究 跨种族、地理和社会实施这些干预措施 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实施将用于制定、修改 并试点测试适应性逐步干预措施，以有效地最大化 提高遵守指南的 CRM 和 FC 的有效性。这种跨学科的努力， 为黑人、农村居民和其他服务不足的人群的增加而致富，将 为政策提供信息并开发可扩展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 指导 CRM 并增强跨不同基因和环境的不同人群的 FC 如果广大人口要从基因组进步中受益，这是非常需要的 这个个性化医疗的时代。