Genetic Testing and Anorexia Nervosa: Knowledge, Attitudes and Awareness

This dissertation consists of three parts, each building on the results of the former, evaluating the treatment and research of anorexia nervosa (AN) from a healthcare genetics perspective. These three parts are bookended by an introduction and a conclusion summarizing key findings and providing suggestions for future work. First, in order to assess how Severe and Enduring Anorexia Nervosa (SE-AN) is defined in the literature, and inclusion of those with SE-AN in genetics research, a comprehensive literature review was performed. The review found a lack of consistent identification and inclusion of the SE-AN subtype in AN genetic study participants. Second, with the knowledge gathered from the literature review as a basis, an ethical analysis of the application of genetic testing in Anorexia Nervosa (AN) was completed. The analysis concluded that for those presenting with atypical AN and SE-AN, genetic testing to rule out or identify other genetic conditions may be of benefit. Lastly, the genomic literacy and attitudes toward genetic testing and genetics research of clinicians treating AN in the United States were assessed. The GknowM, a validated genomic literacy tool, was utilized to assess genomic literacy. To assess attitudes of healthcare providers toward genetic testing and genetic contributions to AN a series of Likert-type type statements were used. An opportunity to provide feedback in a free-text format was also included. The healthcare providers participating in the study had an average GKnowM score of 19.6 (SD=2.8) on a scale of 0-26 (75% correct). Positive correlations were identified between GKnowM score and responses to questions about the influence of genetics on AN and the importance of genetics research. Negative correlations were found between age and years in practice and views on the current utility of genetic testing. Thematic analysis uncovered five central themes from participant responses. The most prevalent theme centralized around inadequate and ineffective treatment options for AN and difficulty accessing and paying for care.