Genetic information has helped researchers and physicians to identify major risk factors for disease and to manage health risks more effectively through improved prevention, screening and family history. The Human Pedigree Analysis Resource (HPAR) designs database tools and methods for the collection and analysis of pedigree data. The HPAR staff consists of the facility director, two Co-Directors, an Informatics Manager, four programmer analysts, a system analyst II and a graduate research assistant. The HPAR database currently supports the Human Clinical Cancer Genetics clinics for breast, ovarian, and colorectal cancers, and provides support to researchers investigating the genetic basis of several other cancer sites. The HPAR has been successful in providing data management support for the collection and analysis of family history information for pedigree data collection, clinical and laboratory tracking information, and laboratory results. During the past 5 years, the HPAR has had 15 users representing 13 CCSG programs, of which 88% are peer-review funded. Long-term objectives are 1) to develop a more advanced genetics database system to extend the HPAR's comprehensive electronic family history information system. This advanced system will include a Web application that allows patients to complete an extended family-history questionnaire prior to their appointment with a genetic counselor. Capturing data before a patient contact will allow genetic counselors to perform automated genetic counseling assessments of the patient's risk for cancer development and the probability of carrying a cancer-susceptibility mutation. 2) To convert the existing SQL server from a two-tier SQL server-based client-server structure to a three-tier structure to make services easily available to other clinicians who need pedigrees drawn from family history information. 3) To develop an in-house interactive computer program for drawing family pedigrees and linking family data gathered for genetics research. This program will be a valuable visual tool for geneticists in identifying clusters of inherited traits and genotypes. Short-term objectives are 1) to avoid duplication of patient data by making informatics tools easily-accessible and to use them to integrate information from different resources (CRIS, CARE, and Clinic Station);2) to provide analytical support for the application of complex genetic software to identify inherited susceptibility to cancers including application of risk assessment software, linkage analysis and genome-wide association analysis studies.
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