caa a22 4500 605545154 CHVBK 20210128100934.0 cr unu---uuuuu 210128e20150401xx s 000 0 eng 10.1007/s10897-014-9756-x doi (NATIONALLICENCE)springer-10.1007/s10897-014-9756-x Interest in Genetic Testing in Ashkenazi Jewish Parkinson's Disease Patients and Their Unaffected Relatives [Elektronische Daten] [Manisha Gupte, Roy 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] 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” wanted testing, if offered "now.” Among relatives, 23.6% "definitely” and 36.1% "probably” wanted testing "now.” Desire for testing in relatives increased incrementally based on hypothetical risk of PD. The most important reasons for testing in probands and relatives were: if it influenced medication response, identifying no mutation, and early prevention and treatment. In logistic regression, older age was associated with less desire for testing in probands OR = 0.921 95%CI 0.868-0.977, p = 0.009. Both probands and relatives express interest in genetic testing, despite no link to current treatment or prevention. National Society of Genetic Counselors, Inc., 2014 Genetic testing nationallicence Parkinson's disease nationallicence LRRK2 nationallicence Ashkenazi jewish nationallicence Genetic counseling nationallicence Gupte Manisha Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut Alcalay Roy Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut Mejia-Santana Helen Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut Raymond Deborah The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, NY, USA aut Saunders-Pullman Rachel The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, NY, USA aut Roos Ernest Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut Orbe-Reily Martha Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut Tang Ming-X Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut Mirelman Anat Movement Disorders Unit, Department of Neurology, Tel-Aviv Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel-Avv, Israel aut Ozelius Laurie Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, New York, NY, USA aut Orr-Urtreger Avi Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel aut Clark Lorraine Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA aut Giladi Nir Movement Disorders Unit, Department of Neurology, Tel-Aviv Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel-Avv, Israel aut Bressman Susan The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, NY, USA aut Marder Karen Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/2(2015-04-01), 238-246 1059-7700 24:2<238 2015 24 10897 https://doi.org/10.1007/s10897-014-9756-x text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10897-014-9756-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Gupte Manisha Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut NATIONALLICENCE 700 1- Alcalay Roy Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut NATIONALLICENCE 700 1- Mejia-Santana Helen Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut NATIONALLICENCE 700 1- Raymond Deborah The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, NY, USA aut NATIONALLICENCE 700 1- Saunders-Pullman Rachel The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, NY, USA aut NATIONALLICENCE 700 1- Roos Ernest Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut NATIONALLICENCE 700 1- Orbe-Reily Martha Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut NATIONALLICENCE 700 1- Tang Ming-X Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut NATIONALLICENCE 700 1- Mirelman Anat Movement Disorders Unit, Department of Neurology, Tel-Aviv Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel-Avv, Israel aut NATIONALLICENCE 700 1- Ozelius Laurie Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, New York, NY, USA aut NATIONALLICENCE 700 1- Orr-Urtreger Avi Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel aut NATIONALLICENCE 700 1- Clark Lorraine Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA aut NATIONALLICENCE 700 1- Giladi Nir Movement Disorders Unit, Department of Neurology, Tel-Aviv Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel-Avv, Israel aut NATIONALLICENCE 700 1- Bressman Susan The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, NY, USA aut NATIONALLICENCE 700 1- Marder Karen Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, 10032, New York, NY, USA aut NATIONALLICENCE 773 0- Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/2(2015-04-01), 238-246 1059-7700 24:2<238 2015 24 10897