Knowledge of and interest in genetic results among Parkinson disease patients and caregivers

J Genet Couns. 2014 Feb;23(1):114-20. doi: 10.1007/s10897-013-9618-y. Epub 2013 Jun 9.


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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Caregivers*
  • Glucosylceramidase / genetics
  • Humans
  • Mutation
  • Parkinson Disease / enzymology
  • Parkinson Disease / genetics*
  • Parkinson Disease / nursing


  • Glucosylceramidase