Essential genetic testing in movement disorders - results from a Delphi study.

Area of Science:

• Neurology
• Genetics
• Medical Diagnostics

Background:

• Genetic testing for movement disorders (MD) has grown significantly.
• Global access to genetic testing and counseling is unequal.
• Standardized guidance for efficient testing strategies is needed for clinicians and policymakers.

Purpose of the Study:

• To establish a consensus list of essential genetic movement disorders for expert identification.
• To guide clinical practice and resource allocation in genetic MD diagnostics.

Main Methods:

• Searched OMIM and MDS Gene databases for MD-associated genes.
• Collected data on available genetic tests from European laboratories.
• Utilized a two-round Delphi method with movement disorder experts to determine essential tests based on clinical management impact.

Main Results:

• Experts identified 59 essential genetic disorders for molecular testing in adult MD clinics.
• The list includes genes for ataxia, parkinsonism, dystonia, chorea, and other MD subtypes.
• Sixteen disorders achieved full expert consensus, including Huntington's disease and specific forms of Parkinson's and ataxia.

Conclusions:

• A definitive list of genetic movement disorders requiring molecular testing in adult centers has been established.
• This expert-driven list will aid in standardizing diagnostic approaches and improving patient management for genetic MD.
• The findings support the need for equitable access to genetic diagnostics and counseling in movement disorders.