Journal of Genetic Counseling

, Volume 24, Issue 2, pp 238–246 | Cite as

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
Original Research

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” 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.

Keywords

Genetic testing Parkinson’s disease LRRK2 Ashkenazi jewish Genetic counseling 

Notes

Acknowledgments

This study was supported by the Michael J Fox Foundation, NIH (R56NS036630, NS050487, NS060113, UL1 TR000040, and 10628097) and the Parkinson’s Disease Foundation.

Disclosure

Manisha Gupte MD, Helen Mejia Santana MS, Anat Mirelman PhD, Deborah Raymond MS, Avi Orr-Urtreger MD PhD, Nir Giladi MD report nothing to disclose.

Dr. Alcalay receives research support from the NIH (K02NS080915), the Parkinson’s Disease Foundation, the Smart Foundation and the Michael J Fox foundation.

Dr. Saunders-Pullman serves on the Scientific Advisory Board of the Dystonia Medical Research Foundation. She receives research support from the NIH (K02 NS073836), the Michael J Fox Foundation for Parkinson’s Research, the Bachmann-Strauss Dystonia and Parkinson’s Foundation, and the Marcled Foundation.

Dr. Ozelius receives salary support from NIH [NS037409, NS075881, DC011805]. She is a current member of the scientific advisory boards of the National Spasmodic Dysphonia Association, the Benign Essential Blepharospasm Research Foundation and Tourette Syndrome Association, Inc. Dr. Ozelius receives royalty payments from Athena Diagnostics related to patents.

Dr. Clark receives research support from the NIH [NINDS #R01 NS060113 (principal investigator), NINDS #R01 NS073872 (Co-principal investigator), NIA #5P50AG008702 (Project 3, principal investigator), and NINDS #NS036630 (co-investigator) and 2P50NS038370-11 (Co-Investigator)], and the Parkinson’s Disease Foundation (principal investigator) and the Michael J Fox Foundation (co-investigator).

Dr. Bressman serves on the advisory boards of the Michael J. Fox Foundation, the Dystonia Medical Research Foundation, the Bachmann Strauss Dystonia and Parkinson’s Foundation, and the Board of We Move. She has consulted for Bristol Meyer Squibb. She has received research support from the Michael J. Fox Foundation, National Institutes of Health (NIH), and Dystonia Medical Research Foundation.

Dr. Marder receives research support from the NIH [#NS036630 (PI), 1UL1 RR024156-01 (Director PCIR), PO412196- G (Co-I),]. She received compensation for participating on the steering committee for U01NS052592 and from the Parkinson Disease Foundation, Huntington’s Disease Society of America, the Parkinson Study Group, CHDI, and the Michael J Fox Foundation.

Conflict of Interest

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 and Karen Marder declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

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Copyright information

© National Society of Genetic Counselors, Inc. 2014

Authors and Affiliations

  • Manisha Gupte
    • 1
  • Roy N. Alcalay
    • 1
    • 2
  • Helen Mejia-Santana
    • 1
  • Deborah Raymond
    • 3
  • Rachel Saunders-Pullman
    • 3
    • 4
  • Ernest Roos
    • 1
  • Martha Orbe-Reily
    • 1
  • Ming-X Tang
    • 1
  • Anat Mirelman
    • 5
  • Laurie Ozelius
    • 6
  • Avi Orr-Urtreger
    • 7
    • 8
  • Lorraine Clark
    • 2
    • 9
    • 10
  • Nir Giladi
    • 5
    • 7
  • Susan Bressman
    • 3
    • 4
  • Karen Marder
    • 1
    • 2
  1. 1.Department of Neurology, College of Physicians and SurgeonsColumbia UniversityNew YorkUSA
  2. 2.Taub Institute for Research on Alzheimer’s Disease and the Aging BrainColumbia UniversityNew YorkUSA
  3. 3.The Alan and Barbara Mirken Department of NeurologyBeth Israel Medical CenterNew YorkUSA
  4. 4.Department of NeurologyAlbert Einstein College of MedicineNew YorkUSA
  5. 5.Movement Disorders Unit, Department of Neurology, Tel-Aviv Medical Center, Sackler School of MedicineTel-Aviv UniversityTel-AvvIsrael
  6. 6.Departments of Genetics and Genomic Sciences and NeurologyMount Sinai School of MedicineNew YorkUSA
  7. 7.Sackler Faculty of MedicineTel Aviv UniversityTel AvivIsrael
  8. 8.Genetics InstituteTel Aviv Sourasky Medical CenterTel AvivIsrael
  9. 9.Department of Pathology and Cell Biology, College of Physicians and SurgeonsColumbia UniversityNew YorkUSA
  10. 10.Center for Human Genetics, College of Physicians and SurgeonsColumbia UniversityNew YorkUSA

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