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

基本信息

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
项目类别：
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

项目摘要

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.

项目摘要大量癌症遗传风险的人可能会受益于新的遗传咨询（GC）向高危亲戚（ARR）促进教育，参与和宣传的方法。当概率时要求携带致病/可能的致病变异（PV）与医学可行的遗传结果与他们的ARR不到ARR完整的预测“级联”测试的不到30％，使生命处于危险之中。提供者 - 富度向ARR推出会导致改进的级联测试吸收。但是，严格的实验研究设计尚未被用来证明这种方法可持续扩展ARR访问的比较有效性进行癌症GC和测试，或者调查数字技术是否可以增强提供商的利益外展。具有不确定意义的变异的患者（VUS）也可能受益于GC的增强订婚;当前的护理标准给患者和非遗传学带来严重的失踪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，特别是在遇到不一致的解释或提供者之间的建议时关于如何获得变体更新的困惑。此外，跟进的最佳实践和对VU的重新评估将受益于技术，以支持患者护理与当地初选的连续性护理提供者（PCP）。拟议的研究通过评估新GC的影响来满足这些需求利用医疗保健对社会心理，行为和实施的数字化增加的模型 PV及其ARR问题以及VUS结果的患者的结果。我们将首先增强现有的数字工具包括语言量身定制和最终用户审查功能，以增加患者的访问权限，教育和持续参与。我们将结合有关这种增强的数字遗传学的反馈平台（EDGP）来自相关的最终用户认知访谈（n = 60）和焦点组（N≈10）。接下来，我们会的进行两个RCT，涉及PV（n = 350）及其ARR（N≈3150）或患有A的患者 vus（n = 280）。概率及其ARR将随机分配到护理臂的标准，其中概率向ARR推广，以鼓励测试或干预部门，其中GC团队有许可在EDGP的支持下向ARR推广，以扩大VUS的美国患者的服务访问将随机分配以通过护理臂的标准获得后续护理，建议它们在1 - 2年内重新连接GC护理团队或干预部门，他们访问EDGP以保持与GC护理团队订婚，并接受教育和提醒以进行更新约会。我们也会直接评估PCP对数字VUS教育的吸收。参与者将完成调查以评估吸收，社会心理和行为成果以及干预实施准备和成本。这项研究有可能改善光伏患者及其家人以及患有VUS的患者的护理，并将最终，适用于跨疾病和临床环境的GC和基因组医学实践。