Scalable tools to effectively translate genomic discoveries into the clinic

可扩展的工具可有效地将基因组发现转化为临床

• 批准号: 9815293
• 负责人: Stacy W. Gray
• 金额: $ 55.63万
• 依托单位: BECKMAN RESEARCH INSTITUTE/CITY OF HOPE
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-09-01 至 2024-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9815293
• 关键词: Address; Area; Attitude; Caring; Cessation of life; Clinic; Communication; Communication Tools; Community Physician; Data; Diabetes Mellitus; Effectiveness; Environment; Excision; Family; Family member; Genetic; Genome; Genomic medicine; Genomics; Health; Healthcare; Human Genome; Information Networks; Intervention; Interview; Lead; Malignant Neoplasms; Medicine; Methods; National Human Genome Research Institute; Natural Language Processing; Organ; Patient Care; Patients; Physicians; Positioning Attribute; Process; Provider; Public Health; Randomized Controlled Trials; Research; Research Priority; Resources; Secure; Social Network; Sum; Test Result; Testing; Translating; Vision; Work; base; clinical care; clinical practice; design; disorder prevention; disorder risk; eHealth; exome; genome sequencing; genomic data; genomic platform; improved; multidisciplinary; online resource; premature; tool; uptake; whole genome

PROJECT SUMMARY We are in the midst of a genomic revolution; more than 250,000 human genomes have been sequenced, generating over a petabase of genomic data. While these new data hold great promise to impact health, there is a disconnect between genomic discovery and clinical care. Providers frequently misinterpret genomic information, patients often don't understand their own test results, and genomic information about disease risk is infrequently shared between patients and family members. Importantly, ineffective communication and data misinterpretation has devastating consequences- including unnecessary organ removal, missed disease prevention opportunities, and premature death. We are addressing these genomic care gaps by developing and testing tools that optimize the integration of whole-exome and whole-genome sequencing (WES, WGS) for general clinical practice. My vision for improving genomic medicine is based on my work within multidisciplinary consortia and addresses the National Human Genome Research Institute's priority research area of improving the effectiveness of healthcare. In the proposed work we will test the effectiveness of a multilevel genomic e-Health intervention in cancer (Aim 1). Our intervention 1) educates physicians and patients about genomics, 2) enables direct-to-patient return-of- results, 3) provides physicians with patient-specific results and resources for interpretation, and 4) facilitates sharing of genomic results within families. We hypothesize that intervention use will result in higher rates of uptake of high-quality, genetically guided care. We will test our hypothesis in a randomized controlled trial among academic and community physicians who use WES for their patients. Next, we will use an iterative process, with stakeholder engagement, to adapt and pilot test our tool for Spanish and Mandarin speaking patients and for patients who have diabetes (Aim 2). Finally, we will create and assess new, moderated, social networks as a platform for genomic information sharing (Aim 3). Our hypothesis is that providers, patients and family members will engage with the genomic information sharing social networks and find them to be highly useful. Our general approach includes 1) creating the secure social networks, 2) integrating the networks into our e-Health intervention, and 3) using complementary methods, such as interviews and natural language processing, to assess stakeholders' network-related attitudes and network information quality. If successful, we will be well positioned to widely disseminate our e-Health tools. In sum, this work stands to transform how people obtain, process and share genomic information in the context of clinical care. Our tools reconceive genetic communication to allow for multi-directional flow of information, connects multiple stakeholders with one another, and integrates high-quality dynamic web-based resources to improve genomic care. In creating and deploying tools that both respond to and leverage the complexities of our information environment, we intend to transform genomic research and clinical practice.

项目摘要 我们正处于基因组革命的中期;超过25万个人类基因组已经被测序， 产生了大量的基因组数据。虽然这些新数据对影响健康有很大的希望， 是基因组发现和临床护理之间的脱节。供应商经常误解基因组 患者通常不了解自己的检测结果，以及有关疾病风险的基因组信息 很少在患者和家属之间分享。重要的是，无效的通信和数据 误解会造成毁灭性的后果--包括不必要的器官切除、遗漏的疾病 预防机会和过早死亡。 我们正在通过开发和测试工具来解决这些基因组护理差距，这些工具可以优化 全外显子组和全基因组测序（WES，WGS）用于一般临床实践。我的愿景是 改进基因组医学是基于我在多学科联盟中的工作，并解决了国家 人类基因组研究所的优先研究领域，提高医疗保健的有效性。在 在拟议的工作中，我们将测试多层次基因组电子健康干预癌症的有效性（目标1）。 我们的干预措施1）教育医生和患者有关基因组学，2）使直接向患者返回- 结果，3）为医生提供患者特异性结果和解释资源，以及4）促进 在家庭内分享基因组结果。我们假设使用干预措施将导致更高的 接受高质量的遗传指导护理。我们将在随机对照试验中检验我们的假设 在学术界和社区医生中使用WES治疗他们的病人。接下来，我们将使用迭代 在利益相关者的参与下，调整和试点测试我们的西班牙语和普通话工具 患者和糖尿病患者（目标2）。最后，我们将创建和评估新的，适度的，社会的， 网络作为基因组信息共享的平台（目标3）。我们的假设是，供应商，患者和 家庭成员将参与基因组信息共享社交网络， 有用的.我们的一般方法包括：1）创建安全的社交网络，2）将网络集成到 我们的电子健康干预，以及3）使用补充方法，如访谈和自然语言 处理，以评估利益相关者的网络相关的态度和网络信息质量。如果成功，我们 将能够很好地广泛传播我们的电子健康工具。总之，这项工作将改变 人们在临床护理的背景下获得、处理和共享基因组信息。我们的工具重新定义 基因沟通允许信息的多向流动，将多个利益相关者联系起来， 彼此，并整合高质量的动态网络资源，以改善基因组护理。在创造 并部署能够响应和利用信息环境复杂性的工具， 旨在改变基因组研究和临床实践。