Abstract
BACKGROUND: Identification of additional types of hereditary angioedema (HAE) with a normal level of C1 esterase inhibitor has highlighted the role of genetic testing in the diagnosis and management of HAE. OBJECTIVE: The objective of this study was to assess health care providers' (HCPs') current experiences, practices, and comfort level with genetic testing in patients at risk for HAE. METHODS: A self-administered electronic questionnaire targeting HCPs working with HAE was distributed across the United States. The questionnaire consisted of 20 questions divided into sections on demographics, current practices, and perspectives on genetic testing. All statistical analyses were performed using the ordinal logistic regression model. RESULTS: Responses were received from 54 allergist-immunologists representing 25 states. Most respondents (77.8% [21 of 27]) noted that genetic testing is part of their usual diagnostic process for a patient with recurrent angioedema. The majority (92.7% [25 of 27]) believed that genetic testing is probably or definitely helpful in the diagnosis of patients with HAE; however, many HCPs (64% [17 of 27]) noted that they were uncomfortable ordering it. HCPs reported that their top 4 barriers to ordering genetic testing included were insurance, cost, availability of genetic counseling, and knowing which test to order. CONCLUSIONS: The study found that HCPs consider genetic testing during a diagnostic workup for HAE; however, many lack confidence in ordering and/or interpreting results. The findings of this study suggest a need for (1) HCP education on the process of genetic testing in HAE; (2) increased collaboration with genetic specialists; and (3) reduction of perceived barriers to genetic testing, such as sponsored testing programs.