Increasing the Value of Genomic Medicine through Private Pharmacogenomic Reporting

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.