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

项目总结 相当数量的癌症遗传风险人群可以从新的遗传咨询(GC)中受益。 促进教育、接触和接触高危亲属(ARR)的方法。当先驱们 携带致病/可能致病变异(PV)的人被要求与 他们的ARR，不到30%的ARR完成了预测性的“级联”测试，将生命置于危险之中。提供商促成的 对ARR的推广有助于改进级联测试的吸收。然而，严格的实验研究设计并没有 已用于演示该方法在可持续扩展ARR接入方面的相对有效性 癌症GC和检测，或者调查数字技术是否可以增强提供商促进的 外展。具有不确定意义的变异(VUS)的患者也可能受益于增强的GC 参与；目前的护理标准给患者和非遗传学患者的误解留下了严重的风险 提供者，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， 尤其是在供应商和供应商之间遇到不一致的解释或建议时 对于他们将如何接收变体更新感到困惑。此外，后续行动的最佳做法和 重新评估VU将受益于支持当地初级医院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GC的影响来满足这些需求 在心理社会、行为和实施方面利用医疗保健日益数字化的模式 先证者的PV及其ARR的结果，以及VUS结果的患者。我们将首先增强一个 现有的数字工具，包括语言定制和最终用户审查功能，以增加患者访问权限， 教育和持续参与。我们将纳入对增强的数字遗传学的反馈 来自相关最终用户认知访谈的平台(EDGP)(n=60)和焦点小组(n≈10)。接下来，我们将 进行两项随机对照试验，涉及患有PV的先证者(n=350)和他们的ARR(n≈3150)，或患有 VUS(n=280)。先证者及其ARR将被随机分配到护理臂标准，其中先证者 扩展到ARR以鼓励测试，或干预手臂，其中GC团队被允许 在eDGP的支持下扩大对ARR的支持，以扩大美国VUS患者的服务渠道 将随机通过护理臂的标准获得后续护理，其中建议 在1-2年后重新联系GC护理团队，或他们访问eDGP的干预部门，以保持 与大中华区护理团队接触，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教育的接受程度。参与者将完成调查以评估吸收情况， 心理社会和行为结果，以及干预实施准备情况和成本。这项研究 有可能改善对PV患者及其家人和VU患者的护理，并将 最终将适用于跨疾病和临床环境的GC和基因组医学实践。

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.