Abstract Details

Title Addressing Challenges of Clinical Comprehensive Genetic Testing in Parkinson’s Disease

Topic Movement Disorders

Presentation(s) P3 - Poster Session 3 (12:00 PM-1:00 PM)

Poster/Presentation
Number 3-001

Objective

To explore attitudes surrounding comprehensive genetic testing results in patients with Parkinson’s disease (PD).

Background The clinical relevance of genetics in PD is rapidly expanding, and cost of exome and genome sequencing (WGS) is falling. Incorporating comprehensive genetic testing into clinical practice must begin with a plan for return of results. This requires understanding patient attitudes surrounding the unique challenges presented by this testing.

Design/Methods We conducted a survey of patients with PD at two academic centers, including four hypothetical cases of patients with PD undergoing WGS with questions to assess attitudes toward results. The cases discussed family risk (LRRK2 variant), increased dementia risk (GBA variant), no clinically actionable results (polygenic risk score only), and a medically actionable variant (BRCA1). The subject’s interest in pursuing WGS given the possibility of each result was recorded on a Likert scale. In parallel, we evaluated actual research WGS from subjects at the same centers.

Results

90 subjects were included in this interim analysis (age 66, 65% men). No subjects reported decreased interested in WGS based on the possibility of PD risk to family. Only 6/90 (7%) expressed decreased interest with potential discovery of increased dementia risk, while 36/90 (58%) were more interested. When informed that WGS usually does not change treatment, 78/90 (87%) reported no change in interest. In fact, 72/90 (90%) were interested to learn their polygenic risk score. 2/90 (2%) of subjects were less interested after discussing medically actionable variants. The parallel cohort of WGS revealed rates of LRRK2 and GBA variants consistent with prior studies (3% and 10%, respectively)

Conclusions Patients with PD desire comprehensive genetic testing even when results are not immediately actionable or include incidental findings revealing risk to self or family members. Data collection is nearly complete. We will present a final analysis of survey findings and WGS from 200 subjects.

Authors/Disclosures
Emily J. Hill, MD (University of Cincinnati) PRESENTER	Dr. Hill has nothing to disclose.
Jennifer M. Deger, BSA	Miss Deger has nothing to disclose.
Laurie Robak, MD, PhD (Baylor College of Medicine)	No disclosure on file
Sindhu R. Rao, MBBS (Baylor College of Medicine)	Dr. Rao has nothing to disclose.
	No disclosure on file
	No disclosure on file
Lisa M. Shulman, MD, F�鶹��ýӳ�� (University of Maryland School of Medicine)	The institution of Dr. Shulman has received research support from NIH. Dr. Shulman has received publishing royalties from a publication relating to health care. Dr. Shulman has received publishing royalties from a publication relating to health care.
Joseph M. Savitt, MD, PhD (University of Maryland)	The institution of Dr. Savitt has received research support from Bial. The institution of Dr. Savitt has received research support from UCB.
Neeja V. Desai, MD (Laureate Medical Group)	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Joseph Jankovic, MD, F�鶹��ýӳ�� (Baylor College of Medicine)	Dr. Jankovic has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Motric Bio. Dr. Jankovic has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Abbvie. The institution of Dr. Jankovic has received research support from Michael J Fox Foundation for Parkinson Research;. The institution of Dr. Jankovic has received research support from Dystonia Coalition. The institution of Dr. Jankovic has received research support from Parkinson's Foundation.
Joshua M. Shulman, MD, PhD, F�鶹��ýӳ�� (Duncan Neurological Research Institute)	Dr. Shulman has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Helis Medical Foudation. The institution of Dr. Shulman has received research support from National Institutes of Health.

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