Journal of Genetic Counseling

, Volume 23, Issue 1, pp 114–120 | Cite as

Knowledge of and Interest in Genetic Results Among Parkinson Disease Patients and Caregivers

  • Karina Sakanaka
  • Cheryl H. Waters
  • Oren A. Levy
  • Elan D. Louis
  • Wendy K. Chung
  • Karen S. Marder
  • Roy N. Alcalay
Original Research

Abstract

The purpose of the study is to investigate Parkinson disease (PD) patients’ and caregivers’ knowledge of and interest in genetic testing. Gaucher disease (GD) results from recessive mutations in glucocerebrosidase (GBA). Both heterozygote GBA carriers and GD patients are at greater risk for PD. Studies regarding knowledge of and interest in genetic testing have been limited and have not offered genetic results to participants. In this study, 353 PD patients and 180 caregivers were recruited to a PD genetic study. The association between GD, GBA mutations and PD was described to participants who reported their familiarity with genetic terms, answered questions on genetic concepts, and indicated their interest in knowing if they may have GD (two GBA mutations) and other genetic information that could impact their health. Ninety-three-percent of participants were interested in receiving GBA results; however, only 51.6 % of PD participants and 55.6 % of caregivers knew that “scientists have identified genes associated with a higher risk of developing PD.” PD patients may benefit from education and genetic counseling on the implications of genetic testing.

Keywords

Parkinson’s disease Gaucher disease Glucocerebrosidase Genetics Counseling 

Notes

Acknowledgments

The authors would like to thank Dr. Stanley Fahn, Dr. Paul Greene, Dr. Blair Ford, and Linda Winfield for participant referral. The authors report no conflicts of interest relevant to the subject of this study. This study was supported by the Brookdale Foundation, the Parkinson’s Disease Foundation, and the NIH (K02 NS080915 and UL1 TR000040, formerly the National Center for Research Resources, Grant Number UL1 RR024156).

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Copyright information

© National Society of Genetic Counselors, Inc. 2013

Authors and Affiliations

  • Karina Sakanaka
    • 1
  • Cheryl H. Waters
    • 1
  • Oren A. Levy
    • 1
  • Elan D. Louis
    • 1
    • 2
    • 3
  • Wendy K. Chung
    • 4
  • Karen S. Marder
    • 1
    • 2
    • 3
    • 5
  • Roy N. Alcalay
    • 1
    • 3
    • 6
  1. 1.Department of Neurology, College of Physicians and SurgeonsColumbia University Medical CenterNew YorkUSA
  2. 2.Gertrude H. Sergievsky Center, College of Physicians and SurgeonsColumbia University Medical CenterNew YorkUSA
  3. 3.Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and SurgeonsColumbia University Medical CenterNew YorkUSA
  4. 4.Department of Pediatrics, Division of Molecular Genetics, College of Physicians and SurgeonsColumbia University Medical CenterNew YorkUSA
  5. 5.Department of Psychiatry, College of Physicians and SurgeonsColumbia University Medical CenterNew YorkUSA
  6. 6.Columbia University Medical CenterNew YorkUSA

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