Clinical Genetics and Screening for Pulmonary Fibrosis

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 DESCRIPTION (provided by applicant): The primary goal of this proposal is to demonstrate the value of genetic testing in the diagnostic and prognostic evaluation of patients with, or in those at-risk for, idiopathic pulmonary fibrosis (IPF). Idiopathic pulmonary fibrosis (IPF), the most common and severe form of pulmonary fibrosis (PF) has a mortality rate comparable to that of many end-stage malignancies Although IPF has historically been unresponsive to pharmacotherapy, recent studies have finally demonstrated that medical therapy can reduce the rate of decline in lung function, particularly when started early in the course of disease. While these findings provide motivation to improve early detection of IPF, recent studies also demonstrate that genetic testing may be a critical factor that can help guide early detection. We hypothesize that specific, known genetic variants confer variable prognosis in patients with PF, and that targeted genetic testing will aid in patient counseling, early disease detection, and ultimately, earlier initiation of medical therapy. To assess these hypotheses we propose to address the following specific aims: Aim 1) Does targeted genetic testing aid in the diagnostic and prognostic evaluation of patients with pulmonary fibrosis? Aim 2) Does targeted genetic testing aid in early detection, and prognostication of populations at-risk for pulmonary fibrosis? and Aim 3) We will assess the psychosocial impact of genetic testing groups at-risk for pulmonary fibrosis. Positive results from these studies will set the stage for subsequent trials that could prospectively evaluate the role of targeted genetic testing in determining the need for further screening, and in designing therapeutic trials in groups at-risk for IPF.