The Importance of a Genetic Diagnosis for Adult-Onset Mitochondrial Disorders: Motivations for Genetic and Genomic Testing

Abstract

Background: Mitochondrial disorders (MD) are rare, debilitating genetic conditions that are often difficult to diagnose due to the heterogeneity of presentations. The onset of symptoms can appear in childhood or later in life. Many individuals with MD experience a prolonged diagnostic journey to secure a molecular diagnosis. Advances in genetic and genomics and variant/gene-disease correlations for MD have improved diagnostic rates, however patients' lived experiences and motivations for seeking a genetic diagnosis remain unexplored. Aim: To understand the motivations of individuals and their families for seeking genetic or genomic testing for MD, and to understand the importance of a genetic diagnosis. Methods: A sequential exploratory study was employed, utilizing quantitative surveys to inform more in-depth semis tructured interviews exploring the motivations and perspectives of patients with MD. Quantitative data were analyzed using STATA and qualitative interviews underwent thematic analysis for identification of emerging themes. Results: The Mito Foundation and other rare disease patient support and advocacy groups were fundamental in recruitment of participants with a genetic diagnosis of adult-onset MD. The following themes have emerged from preliminary data: finding an answer, validation of a real condition, uncertainty about the future and management and treatment implications. More in-depth analysis will be presented. Conclusion: Results of this project may provide insight to healthcare practice to better support patients with MD in their diagnostic journey, as motivations for, and the importance of a diagnosis are understood. MD support and advocacy groups can utilise results to further understand the needs of the MD community.