SBIR-STTR Award

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.

Thesaurus Terms:
computer program /software, computer system design /evaluation, genetic counseling, genetic marker, genetic screening, genetic susceptibility, informatics, technology /technique development

The convergence of recent advances in genome sequencing, genotyping and identification of disease markers has led to the development of the nascent field of personalized medicine, in which an individual's biomarkers can be used to predict his or her disease risks and responsiveness to treatments. Omicia is in the business of developing tools and diagnostics in the field of personalized medicine for cardiovascular disease (CVD). CVD is the leading killer of both men and women and is known to have a strong genetic component Here we propose to develop several tools that aim to identify the genetic components of CVD on a whole-genome scale. The research proposed in this application has three aims. In aim 1, we will update and improve Omicia's Gene Disease Association Database (GDAD) and software, developed during the SBIR Phase I project, to allow whole genome association (WGA) studies to be filtered, annotated, and queried. This will develop into a CVD-centric knowledge resource that will be useful for wide-ranging CVD-related research. Furthermore, this knowledge system will be an essential resource as we carry out in aim 2 a WGA study of myocardial infarction (MI) in women, using a two-stage case-control design involving 1,000 female MI cases and 1,000 female controls. This study will detect novel MI- related markers as well as validate already-published markers. To our knowledge, this will be one of the largest MI risk association studies in women to date. CVD kills more women than men, and 63% of the women who die of a heart attack had exhibited no prior symptoms, so early detection of women's CVD risk is of particular importance. The significant markers from the WGA study will form the basis of a CVD SNP panel that will be designed in aim 3. The GDAD knowledge system as well as the CVD research SNP panel will be commercialized as products directly developed from this SBIR Phase II project. In addition, we expect to identify a number of susceptibility genes that will be further validated by Omicia in other retrospective (and eventually prospective) rigorous clinical studies. Eventually, Omicia plans to develop a CVD risk assessment test that will be of particular importance in the appropriate application of preventive measures in women and has the potential to attain broad clincial acceptance. The outcome of this project will be a research SNP panel to identify markers that are found to be associated with cardiovascular disease (CVD) in women. This SNP panel, along with Omicia's Genome/Disease Association Database (GDAD) knowledge system, will be marketed to CVD researchers to aid them in their quest to uncover the genetic basis of this complex disease. Omicia's ultimate goal is a SNP-based test that will identify women at high risk for CVD, thereby enabling them to begin preventive care before symptoms appear. Since CVD is the leading cause of death and disability in the developed world, and more than half of the women killed by it had exhibited no prior symptoms, Omicia's planned CVD risk assessment test has the potential to significantly improve public health.

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Thesaurus Terms:
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