Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia.

PURPOSE: Appropriate 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.
METHODS: Surveys and online discussion groups with people from hereditary hemorrhagic telangiectasia families.
RESULTS: Multiple 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.
CONCLUSION: Voluntary 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.