Genetics & Family History: Current Projects

• We recently conducted the Family History Validation Study, a telephone survey of 1,380 Connecticut residents, which assessed the accuracy (sensitivity and specificity) of self-reported information about family history of cancer. The study also explored demographic, psychosocial, and medical factors associated with accurate reporting.
• We are working with investigators at the University of New Mexico and the University of Southern California on the Screening for Hereditary Nonpolyposis Colorectal Cancer (HNPCC) study. HNPCC is a syndrome of inherited susceptibility to colorectal cancer. This study is estimating the prevalence of HNPCC in the general population, evaluating current guidelines for identifying individuals with HNPCC, and determining the most effective screening strategy to detect HNPCC mutation carriers among patients with newly diagnosed colorectal cancer.