PURPOSE: We ascertained and reviewed acute health events occurring in 2003 among patients age 18 and greater with well-defined single gene, chromosomal, and selected multifactorial conditions within the Marshfield Epidemiologic Study Area. METHODS: Of 47,077 adult Marshfield Epidemiologic Study Area Central cohort members, 1,831 (3.9%) had been given at least one of 71 ICD-9 codes appropriate for genetic diagnoses of interest. Physician review narrowed this to 591 (1.3%) validated patients for the study. Of the 591, 527 (89.2%) patients registered 6,849 visits, which were manually reviewed to delineate acute, relevant health events in the urgent care and primary care provider setting. RESULTS: A total of 244 acute relevant health events among 126 patients corresponding to 58 different genetic conditions were observed. Acute relevant health events corresponded to 3.4% of the total health events in patients identified with genetic problems. Categories of genetic conditions with the highest frequencies of acute relevant health events included chromosomal and microdeletion syndromes (21.3%), hematologic disorders (11.5%), muscular dystrophies (8.6%), and connective tissue disorders (10.2%). CONCLUSIONS: These data have multiple applications and implications in addressing the natural history, long-term medical needs and financial impact of adult patients with genetic conditions.
PURPOSE: We ascertained and reviewed acute health events occurring in 2003 among patients age 18 and greater with well-defined single gene, chromosomal, and selected multifactorial conditions within the Marshfield Epidemiologic Study Area. METHODS: Of 47,077 adult Marshfield Epidemiologic Study Area Central cohort members, 1,831 (3.9%) had been given at least one of 71 ICD-9 codes appropriate for genetic diagnoses of interest. Physician review narrowed this to 591 (1.3%) validated patients for the study. Of the 591, 527 (89.2%) patients registered 6,849 visits, which were manually reviewed to delineate acute, relevant health events in the urgent care and primary care provider setting. RESULTS: A total of 244 acute relevant health events among 126 patients corresponding to 58 different genetic conditions were observed. Acute relevant health events corresponded to 3.4% of the total health events in patients identified with genetic problems. Categories of genetic conditions with the highest frequencies of acute relevant health events included chromosomal and microdeletion syndromes (21.3%), hematologic disorders (11.5%), muscular dystrophies (8.6%), and connective tissue disorders (10.2%). CONCLUSIONS: These data have multiple applications and implications in addressing the natural history, long-term medical needs and financial impact of adult patients with genetic conditions.
Authors: Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober Journal: Genet Med Date: 2008-07 Impact factor: 8.822
Authors: Kelly D Farwell; Layla Shahmirzadi; Dima El-Khechen; Zöe Powis; Elizabeth C Chao; Brigette Tippin Davis; Ruth M Baxter; Wenqi Zeng; Cameron Mroske; Melissa C Parra; Stephanie K Gandomi; Ira Lu; Xiang Li; Hong Lu; Hsiao-Mei Lu; David Salvador; David Ruble; Monica Lao; Soren Fischbach; Jennifer Wen; Shela Lee; Aaron Elliott; Charles L M Dunlop; Sha Tang Journal: Genet Med Date: 2014-11-13 Impact factor: 8.822