Genetic Testing for Parkinson Disease: Are We Ready?

Area of Science:

• Neurology
• Genetics
• Precision Medicine

Background:

• Growing demand for genomic testing in Parkinson disease (PD).
• Physician hesitancy due to perceived low clinical utility of PD genetic test results.
• Patient and family interest in understanding PD genetic status.

Purpose of the Study:

• To review the current genetic landscape of PD.
• To describe the potential benefits of genetic testing for PD.
• To provide strategies for evaluating patients for genetic testing and resources for clinicians.

Main Methods:

• Literature review of genetic testing in Parkinson disease.
• Analysis of current genetic testing options and their utility.
• Discussion of genotype-phenotype correlations and gene-specific clinical trials.

Main Results:

• Interest in PD genetic testing is increasing among patients and families.
• Clinical utility of PD genetic testing is evolving with new research.
• Gene-specific clinical trials and genotype-phenotype data are influencing testing discussions.

Conclusions:

• Increased clinician understanding of PD genetic testing options and utility can improve comfort with widespread testing.
• Genetic testing can inform patient care and research in Parkinson disease.
• Precision medicine approaches are becoming more integral to PD management.