Research in Speech Science and Voice Disorders: The Promise of Modern Genetic Approaches in Improving Clinical Diagnosis and Treatment

Much of the research in speech science and voice biology characterizes disorders through observations of functional behaviors, physiological measurements (e.g., videostroboscopy, subglottic pressure, noninvasive electroencephalography, acoustics, etc.), and outcome metrics. This body of research contributes to our understanding of disease presentation and informs clinical assessment and treatment paradigms. However, when existing treatments are not consistently effective in empirical testing, these techniques are limited in the information they can provide for revising clinical plans and improving patient outcomes. Investigation into gene mutations and protein and gene-level changes in speech science and voice disorders is starting to elucidate the pathophysiology underlying these conditions. In this article, we discuss the strengths and limitations of research relying on behavioral and functional assessment and treatment efficacy data in speech science and voice. We also provide a basic overview of modern genetic research approaches that may lend to greater mechanistic and etiological understanding of the disorders our patients face.