The convergence of the human genome sequencing, genotyping and identification of disease markers has lead to the development of the nascent field of personalized medicine where genetic screening of an individual can provide insight to disease sensitivityand progression and responsiveness to drug therapy. Key to this new and evolving field are informatics system that can collate information, analyze data and make predictions on medical outcomes of individuals. There remains an enormous challenge - how is this information to be translated into improved health care for the community? This challenge is technical and social. Before individuals can begin to take advantage of these advances through broad-based genetic profiling, there needs to be a system to integrate all the genetic sequences and related medical literature. The immediate issues are data management and analysis and, above all, the requirement for secure and private data delivery systems that make sense to the providers of health care and to the individuals whose genotypes are to be profiled. In specific, standards for this communication data representation challenge simply do not exist.
The aim of this Phase I SBIR is to build a conceptual framework and prototype for an IT infrastructure that allows for the delivery of personalized genotype information and consequences to the customer. Starting from a selected set of genetic diseases from OMIM an interdisciplinary team of general physicians, geneticists, genetic counselors and ethicists among other healthcare professionals will screen this data for relevant information to be delivered in a comprehensive genetic profile. The multi-factorial disease information will be reviewed and summarized in a handcurated way by disease experts and securely stored in a relational database system. Finally, a sample genome profile, GeneHealth report, will be generated using simulated scenarios where the simulated individuals test positive for multiple good and bad alleles. This report will tabulate, explain and summarize relevant clinical results related to the individual's genetic profile and present it in a way that is comprehensible to the individual and consistent with the research findings. The objective of the report is to allow individuals more actively to manage their health based upon the most current genetic research information. Specific emphasis during the Phase I project will be given to the critical privacy issues on to the challenge of most effectively presenting the complex data generated. During Phase II, the prototype completed in this Phase I will be evaluated, the development of a final delivery system will be completed, and the final product will be commercialized. ? ?
