MDS Staff Liaison: Annamarie Lofald
Task Force Purpose
While diagnosis of Parkinson's disease does not hinge on genetics, knowledge of gene carrier status may inform counseling patients on the expected rate of progression, risk of cognitive impairment, and selection of therapeutics, and this knowledge may be desired by the patient. There has been rapid development of experimental therapeutics targeting specific PD genetic mutations (LRRK2 and GBA), a number of which will soon enter clinical trial stage or already have. Up until now, the general state of practice was not to offer clinical genetic testing as it would not change patient management. However, patients’ right to self-determination as well as potentially actionable results, including through enrollment in clinical trials, raise the urgency to describe the landscape of testing practices and develop a consensus on recommendations.
As testing options expand, and gene-specific trials increase demand for testing, movement disorders clinicians may not be fully prepared to offer counseling and testing. All the recent developments in the field require critical review of the current status of genetic testing, as well as a careful review of associated ethical aspects.
The objectives of Task Force on Recommendations for Clinical Genetic Testing in Parkinson’s Disease are:
- Convene a panel of international experts to review the current state of the field in PD genetic testing and counseling in various regions of the world
- Review the ethical implications of genetic testing, counseling, and variable access to testing
- Build consensus on the policies and recommendations for PD clinical genetic testing and counseling
Task Force Members
|Su Ju Chung