Due to the heterogeneity of mitochondrial disease and its numerous manifestations, screening for mitochondrial disease is a perplexing problem.
In the best-case scenarios, patients exhibit typical characteristics of a specific mitochondrial disease and a diagnosis can be made clinically. These clinical diagnoses can then be confirmed through molecular genetic testing if the mutation for the specific symptoms is known. However, for the majority of patients, a more detailed and structured approach towards diagnoses is necessary. These approaches include: family history, blood and/or cerebrospinal fluid lactate concentration, neuroimaging, cardiac evaluation, muscle biopsy, and molecular genetic testing for a mtDNA mutation (FDA, 2014).
Whole mitochondrial genome analysis is a increasingly available option in screening for mitochondrial disease. However, diagnostic challenges do remain (FDA, 2014). These challenges arise because of the heterogeneity of mitochondrial disease amongst individuals and the heteroplasmy seen in populations. According to the FDA, the ability to accurately identify the specific mitochondrial mutations would be critical in designing the possible trials in the future. Furthermore, information gleaned from the whole mitochondrial genome analysis would help in identifying the women eligible to participate in trials for mitochondrial replacement, screening potential donors, and in monitoring mitochondrial mutations in the embryos and subsequent children (FDA, 2014).