作者: Sharon E Plon , H Paul Cooper , Bethany Parks , Shweta U Dhar , P Adam Kelly
DOI: 10.1097/GIM.0B013E318207F564
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摘要: Purpose: Sequence-based cancer susceptibility testing results are described as negative, deleterious mutation or variant of uncertain significance. We studied the impact different types test on clinical decision making. Methods: Practicing physicians from five specialties in Texas completed an online case-based survey (n = 225). Respondents were asked to make genetic and management recommendations for healthy at-risk relatives patients with cancer. Results: When patient carried a BRCA1 significance, 98% 82% physicians, respectively, recommended (P < 0.0001). In both situations, comprehensive BRCA1/2 analysis was selected most corresponding 9-fold increase unnecessary costs. There no difference 81) without 144) prior experience 0.3869). Cancer risk intense relative compared 63%, 13%, 5%, 2%, recommending oophorectomy Conclusions: Independent experience, specialty, chose more than current guidelines recommend. contrast, decisions demonstrated uncertainty associated Utilization professionals education family-centered may improve efficacy substantially reduce