System for genetic marker information delivery

DESCRIPTION (provided by applicant): 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 w omen 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 resou rce 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 1,0 00 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 wom en 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 furth er 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 plann ed CVD risk assessment test has the potential to significantly improve public health.