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• W2023689636 abstract "PurposeAppropriate management of autosomal dominant disorders reduces morbidity and mortality but relies on identifying which family members are affected. Genetic testing may identify relatives needing follow-up but is underused. We conducted this study to identify barriers to genetic testing for one disorder, hereditary hemorrhagic telangiectasia.MethodsSurveys and online discussion groups with people from hereditary hemorrhagic telangiectasia families.ResultsMultiple barriers to hereditary hemorrhagic telangiectasia genetic testing were identified including lack of knowledge about genetic testing, problems with access, and emotional barriers. Many participants did not understand the rationale for hereditary hemorrhagic telangiectasia testing or benefits of early detection; believed that genetic testing is expensive and not covered by insurance; and believed that primary care providers do not know how to order genetic testing. Access to hereditary hemorrhagic telangiectasia testing is limited by distance from a hereditary hemorrhagic telangiectasia center or a genetics clinic. Emotional barriers include fear of insurance discrimination; denial of having hereditary hemorrhagic telangiectasia or being at risk; and guilt and stigma.ConclusionVoluntary disease organizations should develop and disseminate brief educational materials that describe the rationale for genetic testing and emphasize the benefits of early detection and treatment. In addition, laboratories offering genetic testing should provide support for primary care physicians to order and interpret genetic tests." @default.
• W2023689636 created "2016-06-24" @default.
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• W2023689636 date "2011-09-01" @default.
• W2023689636 modified "2023-10-16" @default.
• W2023689636 title "Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia" @default.
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• W2023689636 doi "https://doi.org/10.1097/gim.0b013e31821d2e6d" @default.
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