Genetic Testing for Parkinson's Disease and Related Disorders

Genetic discoveries in the past decade have enhanced our understanding of the causes and pathogenesis of Parkinson's disease (PD) and related disorders. It is now known that mutations in alpha synuclein, parkin, UCHL1, and DJ-1, may predispose an individual to develop PD in ways that are complex and not fully understood. With these advances, questions have been raised about how the emerging knowledge and technologies will affect evidenced-based standards of clinical care.

Current genetic tests cannot provide a conclusive assessment of clinical risk for those persons appearing to be at increased risk for PD. For example, multiple cases of PD in some families may reflect shared environmental exposures rather than inherited susceptibility. Even when an inherited mutation is implicated, it may not necessarily be a mutation for which a genetic test is available; this is particularly true for the parkin gene where multiple mutations may or may not have clinical consequences. Despite major advances in DNA technology, identifying mutations remains a challenge; a single gene, like parkin, can have numerous mutations, not all of them well understood or equally influential. Thus, a positive test does not guarantee that disease is imminent, while a negative test - since it evaluates only the more common mutations - cannot exclude it.

There are also important questions and concerns that arise about the privacy of an individual's genetic information, the ability of employers to have access to test results or even to have potential workers screened, the use of genetic information by insurers to identify those policy holders who might be susceptible to certain diseases because of their genetic makeup to determine policy eligibility or premium rates, and what laws or government regulations society might adopt to ensure the confidentiality and appropriate use of genetic information.

Perhaps the most important limitation of genetic testing for PD at this time is that sufficient information about prevalence, penetrance, clinical validity and utility, test sensitivity, specificity, and predictive value is not yet available. In addition, and very importantly, disease-modifying or preventive treatments are currently lacking.

Discussion of the complex issues surrounding genetic testing of PD is underway. Gathering the information and establishing the protocols needed to safely and wisely integrate genetic testing and counseling for PD will require a coordinated research effort. In the interest of evidenced-based scientific standards, optimal clinical care, and the NINDS mission to relieve the burden of neurologic disorders, there is a need to discuss genetic testing for PD, in an open forum with input from scientists, clinicians, genetic counselors, ethicists, industry and the PD advocacy community. This is the mission of the satellite workshop 'Genetic Testing for Parkinson's Disease and Related Disorders', to be held at the annual meeting of the American Society for Experimental NeuroTherapeutics (ASENT) on Saturday March 13, 2004, at the Hyatt Regency in Bethesda, MD.

Genetic Testing for Parkinson's Disease and Related Disorders
March 13, 2004
Hyatt Regency Bethesda
One Bethesda Metro
Bethesda, MD 20814

AGENDA

Saturday, March 13, 2004

1. Introduction and Overview of Neurogenetic Testing
   Michael Watson, Ph.D.
   Kimberly Quaid, Ph.D.
   
   Discussion
   
   
2. The science of Genetic testing in PD
   
   Academic perspective
   
   Commercial laboratory perspective
   William Seltzer, Ph.D.
   
   Discussion
   
   
3. Wrap up, future direction/Patient Perspective
   
   TBD
   
   Discussion

6th Annual Meeting Registration hours:
Thursday, March 11, 2004
9:30 a.m. - 6:00 p.m.
Friday, March 12, 2004
7:00 a.m. - 5:00 p.m.
Saturday, March 13, 2004
7:00 a.m. - 3:00 p.m.

If you have any questions, please contact Anne Rushing at the ASENT office at (414) 273-8290 or arushing@execinc.com.