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

基本信息

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
项目类别：
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

项目摘要

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.

抽象的基因组测序有望改变医学，但目前的遗传经济学和基因组测试禁止广泛采用。特别有趣的是药物基因组学（PGX），有可能通过理解来转化精确医学基因 - 药物疾病关联，药物途径的映射，药物靶标识别和最小化药物毒性。尽管具有潜力，但PGX尚未广泛实施临床护理，受到基因组测序的高成本，缺乏标准化和可互操作的数据以及在解释复杂基因组报告时缺乏临床医生教育。我们旨在通过开发符合HIPAA，隐私保护PGX平台，患者可以维持所有权和交易级别的数据使用控制，从而在促进使用时保护患者隐私并重复使用基因组数据。该工具将包括简化的报告生成，一个加密的支持针对PGX数据的加密查询的数据库，并通过API或用户友好网络和移动应用程序。我们的创新加密技术提供了前所未有的隐私水平，从不暴露未加密对第三方（例如数据存储或计算提供商）或其他的敏感数据中介。另外，仅传递给定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）简化了，临床医生的负担是独立分析的冗长或复杂的报告减少了。最终，该项目旨在提高基因组测序和护理点标准化PGX数据的可用性。