J Genet Counsel DOI 10.1007/s10897-014-9756-x

ORIGINAL RESEARCH

Interest in Genetic Testing in Ashkenazi Jewish Parkinson’s Disease Patients and Their Unaffected Relatives Manisha Gupte & Roy N. Alcalay & Helen Mejia-Santana & Deborah Raymond & Rachel Saunders-Pullman & Ernest Roos & Martha Orbe-Reily & Ming-X Tang & Anat Mirelman & Laurie Ozelius & Avi Orr-Urtreger & Lorraine Clark & Nir Giladi & Susan Bressman & Karen Marder

Received: 24 March 2014 / Accepted: 6 August 2014 # National Society of Genetic Counselors, Inc. 2014

Abstract Our objective was to explore interest in genetic testing among Ashkenazi Jewish (AJ) Parkinson’s Disease (PD) cases and first-degree relatives, as genetic testing for LRRK2 G2019S is widely available. Approximately 18 % of AJ PD cases carry G2019S mutations; penetrance estimations vary between 24 and 100 % by age 80. A Genetic Attitude Questionnaire (GAQ) was administered at two New York sites to PD families unaware of LRRK2 G2019S mutation status. The association of G2019S, age, education, gender and family history of PD with desire for genetic testing (outcome) was modeled using logistic regression. One-hundred eleven PD cases and 77 relatives completed the GAQ. Both PD cases and relatives had excellent PD-specific genetic knowledge. Among PD, 32.6 % “definitely” and 41.1 % “probably” M. Gupte : R. N. Alcalay : H. Mejia-Santana : E. Roos : M. Orbe-Reily : M.

Interest in genetic testing in Ashkenazi Jewish Parkinson's disease patients and their unaffected relatives.

Our objective was to explore interest in genetic testing among Ashkenazi Jewish (AJ) Parkinson's Disease (PD) cases and first-degree relatives, as gen...
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