Digital Technology to Enhance Access to and Effectiveness of Cancer Genetic Counseling

数字技术增强癌症遗传咨询的可及性和有效性

• 批准号: 10448127
• 负责人: Jada Gabrielle Hamilton
• 金额: $ 88.5万
• 依托单位: SLOAN-KETTERING INST CAN RESEARCH
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-08-15 至 2026-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10448127
• 关键词: Address; Appointment; Authorization documentation; Caring; Clinical; Communication; Confusion; Continuity of Patient Care; Decision Making; Disclosure; Disease; Education; Educational Materials; Effectiveness; Emotional; Ensure; Evaluation; Face; Family; Feedback; Focus Groups; Genes; Genetic; Genetic Counseling; Genetic Enhancement; Genomic medicine; Healthcare; Implementation readiness; Individual; Intervention; Linguistics; Mediating; Medical; Memorial Sloan-Kettering Cancer Center; Modeling; Outcome; Participant; Pathogenicity; Patient Care; Patients; Periodicity; Persons; Population; Pre-Post Tests; Provider; Quality of Care; Randomized; Randomized Controlled Trials; Recommendation; Recording of previous events; Relative Risks; Research; Research Design; Risk; Saliva; Schedule; Service delivery model; Services; Surveys; Technology; Testing; Time; Update; Variant; Work; arm; behavioral outcome; cancer genetics; cancer predisposition; cancer risk; care delivery; care providers; cognitive interview; comparative effectiveness; cost; digital; experience; experimental study; follow-up; gene panel; genetic pedigree; genetic testing; hereditary risk; implementation cost; implementation intervention; implementation outcomes; improved; intervention cost; non-genetic; novel; outreach; proband; prospective; psychosocial; response; standard of care; stressor; telegenetics; testing uptake; tool; treatment arm; trial design; uptake; variant of unknown significance

PROJECT SUMMARY A substantial number of people at hereditary risk for cancer could benefit from novel genetic counseling (GC) approaches that promote education, engagement, and outreach to at-risk relatives (ARR). When probands carrying pathogenic/likely pathogenic variants (PV) are asked to share medically actionable genetic results with their ARR, less than 30% of ARR complete predictive “cascade” testing, putting lives at risk. Provider -facilitated outreach to ARR leads to improved cascade testing uptake. Yet, rigorous experimental study designs have not been used to demonstrate comparative effectiveness of this approach for sustainably expanding ARR access to cancer GC and testing, or to investigate whether digital technology may enhance provider-facilitated outreach. Patients with a variant of uncertain significance (VUS) may also benefit from enhanced GC engagement; current standard of care leaves serious risks for misinterpretation by patients and non-genetics providers, and consequent medical mismanagement. Patients may experience negative responses to VUS, particularly when encountering discordant interpretations or recommendations between providers and confusion about how they will receive variant updates. In addition, best practices for follow-up and reassessment of a VUS would benefit from technology to support continuity of patient care with local primary care providers (PCPs). The proposed study addresses these needs by assessing the impact of a new GC model that leverages the increasing digitization of healthcare on psychosocial, behavioral, and implementation outcomes for probands with PV and their ARR, and for patients with a VUS result. We will first enhance an existing digital tool to include linguistically tailored and end-user vetted features that increase patient access, education, and sustained engagement. We will incorporate feedback on this enhanced Digital Genetics Platform (eDGP) from relevant end-user cognitive interviews (n=60) and a focus group (n≈10). Next, we will conduct two RCTs involving either probands with a PV (n=350) and their ARR (n≈3150), or patients with a VUS (n=280). Probands and their ARR will be randomized to the standard of care arm, wherein probands outreach to ARR to encourage testing, or the intervention arm, wherein the GC team is given permission to outreach to ARR with support from the eDGP to expand service access across the U.S. Patients with a VUS will be randomized to obtain follow-up care through the standard of care arm, wherein they are recommended to re-contact the GC care team in 1-2 years, or the intervention arm, wherein they access the eDGP to remain engaged with the GC care team, and receive education and reminders for update appointments. We will also directly assess PCPs’ uptake of digital VUS education. Participants will complete surveys to assess uptake, psychosocial and behavioral outcomes, and intervention implementation readiness and cost. This research has the potential to improve care for patients with a PV and their families, and patients with a VUS, and will ultimately be applicable to the practice of GC and genomic medicine across diseases and clinical settings.

项目摘要 大量具有癌症遗传风险的人可以从新型遗传咨询（GC）中受益 促进教育，参与和外展到风险亲属（ARR）的方法。当先证者 携带致病性/可能致病性变体（PV）的人被要求与 他们的ARR，不到30%的ARR完成预测“级联”测试，将生命置于危险之中。提供者-便利 推广到ARR导致级联测试吸收的改善。然而，严格的实验研究设计并没有 用于证明这种方法在可持续地扩大ARR接入方面的相对有效性 癌症GC和测试，或调查数字技术是否可以提高提供者促进 外展具有不确定意义的变异（VUS）的患者也可能从增强的GC中获益 参与;目前的护理标准存在患者和非遗传学误解的严重风险 供应商，以及随之而来的医疗管理不善。患者可能会对VUS产生负面反应， 特别是当遇到供应商之间不一致的解释或建议时， 关于他们将如何接收变体更新的困惑。此外，后续行动的最佳做法和 VUS的重新评估将受益于支持患者护理连续性的技术， 护理提供者（PCP）。拟议的研究通过评估新的GC的影响来满足这些需求 该模型在心理社会、行为和实施方面利用日益增长的医疗保健数字化 PV先证者及其ARR和VUS结果患者的结局。我们将首先加强一个 现有的数字工具，包括语言定制和最终用户审查的功能，增加病人的访问， 教育和持续参与。我们将把对这一增强的数字遗传学的反馈 平台（eDGP）从相关的最终用户认知访谈（n=60）和焦点小组（n = 10）。接下来我们就 进行两项RCT，涉及PV先证者（n=350）及其ARR（n = 3150），或 VUS（n=280）。先证者及其ARR将被随机分配到标准护理组，其中先证者 与ARR联系以鼓励测试，或干预组，其中GC团队被允许 在eDGP的支持下向ARR推广，以扩大美国各地的服务范围。 将被随机分配到标准治疗组接受随访治疗， 在1-2年内重新联系GC护理团队，或干预组，其中他们访问eDGP以保持 参与GC护理团队，并接受教育和更新预约的提醒。我们还将 直接评估PCP对数字VUS教育的接受情况。参与者将完成调查，以评估吸收情况， 心理社会和行为结果，以及干预实施准备和成本。本研究 有可能改善PV患者及其家属以及VUS患者的护理， 最终适用于跨疾病和临床环境的GC和基因组医学实践。