Creation & Analysis of a Genealogy/Medical Phenotype Resource

One of the results of the mapping of the human genome will be a new, more detailed understanding of genetic contribution to human disease and health. Such understanding will allow the further development of strategies to predict, minimize or prevent disease, and to improve healing and health.

This proposal is modeled after the original Utah genealogy. We propose to expand on our previous experience by beginning to build the genealogy of the US, and record linking the genealogy we create to the extensive computerized medical data registry of the Veteran's Health Affairs (VHA) system.

We will link VHA patient data from the Utah and Massachusetts VHA facilities to this genealogy, and perform familiality analysis for several phenotypes, including common cancers, PTSD, and chronic fatigue syndrome. With additional funding, we will extend to other states.

One of the initial research uses of this powerful resource will be the application of multiple hypothesis tests to discover familial disease patterns. The population-based approach allowed by this resource represents a more complete method than case-control studies to investigate the genetic component to common disease. It allows a search for familial factors that extends beyond the nuclear family, and so decreases the effect of shared environment.

The wide range of health-related phenotypes available for this resource will make it unique and powerful in many ways. The larger resource we plan, and this initial resource of 2 US states, will be the first US population-based resource of its kind. One of its greatest strengths will be the high quality and quantity of the phenotypic data available on a well characterized population.