Increasing the Value of Genomic Medicine through Private Pharmacogenomic Reporting

通过私人药物基因组报告增加基因组医学的价值

• 批准号: 10760119
• 负责人: Adam Wesley Hansen
• 金额: $ 34.94万
• 依托单位: GENEIAL LLC
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-07 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10760119
• 关键词: Acceleration; Adoption; Alleles; Biological Assay; Blood specimen; CLIA certified; Client; Clinical; Code; Communities; Complex; Country; Data; Data Analyses; Data Set; Data Storage and Retrieval; Databases; Development; Disease; Drug Targeting; Drug toxicity; Economics; Ecosystem; Education; Enrollment; Fast Healthcare Interoperability Resources; Financial cost; Foundations; Future; Generations; Genes; Genetic; Genomic medicine; Genomics; Grant; Growth; Haplotypes; Health Insurance Portability and Accountability Act; Health Personnel; Healthcare Systems; Incentives; Individual; Industry; Knowledge; Laboratories; Libraries; Maps; Mathematics; Medicine; Output; Ownership; Pathway interactions; Patient Outcomes Assessments; Patients; Performance; Pharmaceutical Preparations; Pharmacogenetics; Pharmacogenomics; Phase; Privacy; Privatization; Provider; Public Health; Recommendation; Reporting; Research; Risk; Secure; Software Tools; Standardization; Technology; Testing; Therapeutic; Tissues; Transact; Variant; Work; base; biobank; clinical care; clinical decision support; clinical sequencing; cloud based; controlled release; cost; data exchange; data interoperability; data preservation; data reuse; data sharing; data standards; encryption; flexibility; genetic testing; genome sequencing; genomic data; individual patient; innovation; insight; interest; interoperability; knowledge base; mobile application; open source; operation; patient privacy; point of care; population health; precision medicine; privacy preservation; success; tool; treatment optimization; user-friendly; web app; whole genome

Abstract Genomic sequencing promises to transform medicine, yet the current economics of genetic and genomic testing prohibit widespread adoption. Of particular interest is pharmacogenomics (PGx), with the potential to transform precision medicine through understanding gene-drug-disease associations, mapping of drug pathways, identification of drug targets, and minimization of drug toxicities. Despite its potential, PGx has yet to be widely implemented in clinical care and is hindered by high costs of genomic sequencing, lack of standardized and interoperable data, and lack of clinician education in interpreting complex genomic reports. We aim to solve these problems through the development of a HIPAA-compliant, privacy-preserving PGx platform in which patients can maintain ownership and transactional-level control of data use, thereby protecting patient privacy while facilitating use and reuse of genomic data. This tool will include streamlined report generation, an encrypted database supporting encrypted queries against PGx data, and access via API or user-friendly web and mobile applications. Our innovative encryption technology offers an unprecedented level of privacy, never exposing unencrypted sensitive data to third parties (e.g. data storage or compute providers) or other intermediaries. Additionally, by only delivering the standardized data needed for a given context, interoperability and integration with existing clinical workflows (e.g. EHR or clinical decision support platforms) is streamlined and the burden of clinicians to independently analyze lengthy or complex reports is reduced. Ultimately, this project aims to increase the value of genomic sequencing and the availability of standardized PGx data at the point of care.

摘要 基因组测序有望改变医学，但目前的遗传和 基因测试禁止广泛采用。特别感兴趣的是药物基因组学 (PGx)，有可能通过理解来改变精准医学 基因-药物-疾病关联，药物途径的绘图，药物靶点的鉴定，以及 药物毒性最小化。尽管PGx具有潜力，但它尚未在中国得到广泛实施。 基因组测序的高成本、缺乏标准化和可操作性， 可互操作的数据，以及缺乏解释复杂基因组报告的临床医生教育。 我们的目标是通过开发符合HIPAA的， 保护隐私的PGx平台，患者可以在其中保持所有权， 数据使用的事务级控制，从而在方便使用的同时保护患者隐私 和基因组数据的再利用。该工具将包括简化的报告生成、加密的 数据库，支持对PGx数据的加密查询，并通过API或用户友好的 web和移动的应用。 我们创新的加密技术提供了前所未有的隐私级别， 未加密的敏感数据提供给第三方（例如数据存储或计算提供商）或其他 中介机构此外，通过仅提供给定应用所需的标准化数据， 上下文、互操作性和与现有临床工作流程的集成（例如，EHR或临床 决策支持平台）被简化，临床医生独立分析 减少了冗长或复杂的报告。最终，该项目旨在增加 基因组测序和标准化PGx数据在护理点的可用性。