Genetic Testing of Movements Disorders: A Review of Clinical Utility

Abstract

Currently, pathogenic variants in more than 500 different genes are known to cause various movement disorders. The increasing accessibility and reducing cost of genetic testing has resulted in increasing clinical use of genetic testing for the diagnosis of movement disorders. However, the optimal use case(s) for genetic testing at a patient level remain ill-defined. Here, we review the utility of genetic testing in patients with movement disorders and also highlight current challenges and limitations that need to be considered when making decisions about genetic testing in clinical practice.

Highlights: The utility of genetic testing extends across multiple clinical and non-clinical domains. Here we review different aspects of the utility of genetic testing for movement disorders and the numerous associated challenges and limitations. These factors should be weighed on a case-by-case basis when requesting genetic tests in clinical practice.

Keywords: Clinical Utility; Diagnosis; Genetics; Movement Disorders.

Figure 1

Benefits, challenges & limitations of genetic testing for movement disorders. The balance of benefits, challenges and limitations for genetic testing of movement disorders is dynamic, requiring the routine consideration of both clinical and non-clinical domains. Taking a broad general perspective, the current balance of these ‘pros’ and ‘cons’ likely weighs in favor of genetic testing. However, the exact position of the scales is dependent on individual patient factors, local resource availability and healthcare system contexts. Clinicians must consider these factors holistically when making decisions regarding genetic testing, on a case-by-case basis and in consultation with patients and their families. Emerging opportunities and challenges will continue to shift the balance of these decisions, likely further in favor of genetic testing as improvements in genetic technology and scientific understanding of disease lead to improved diagnosis, prognostication and treatment of genetic movement disorders. GUS, gene of uncertain significance; VUS, variant of uncertain significance.