Journal of Genetic Counseling

, Volume 20, Issue 4, pp 384–395 | Cite as

Genetic Testing and Parkinson Disease: Assessment of Patient Knowledge, Attitudes, and Interest

  • Dana Clay Falcone
  • Elisabeth McCarty Wood
  • Sharon X. Xie
  • Andrew Siderowf
  • Vivianna M. Van Deerlin
Original Research


The most common genetic contributor to late-onset Parkinson disease (PD) is the LRRK2 gene. In order to effectively integrate LRRK2 genetic testing into clinical practice, a strategy tailored to the PD population must be developed. We assessed 168 individuals with PD for baseline knowledge of genetics, perceived risk, and interest and opinions regarding genetic counseling and testing. Most participants felt that they were familiar with general genetics terms but overall knowledge levels were low, with an average score of 55%. The majority of participants thought it was likely they inherited a PD gene (72%), believed genetic testing for PD would be useful (86%), and were interested in genetic testing (59%) and genetic counseling (56%). However, only a few participants had heard of any genetic tests for PD (29%) or LRRK2 (10%). There appears to be a significant level of interest in genetics and genetic testing within the PD population, but a considerable deficit in genetics knowledge and an over-estimation of risk. Genetic education and counseling tools to address these needs were developed to provide patients with the ability to make informed and knowledgeable genetic testing decisions.


Parkinson disease Genetic testing Genetic knowledge Attitudes Perceived risk 



We would like to thank the Penn CIGHT for supporting our pilot study through grant NIH P50 HG004487 from the National Human Genome Research Institute. The study was supported partially by AG-10124 (the Alzheimer’s Disease Core Center) and NS-053488 (the Morris K. Udall Parkinson’s Disease Research Center of Excellence). We would also like to thank Xiaoyan Han, M.S. for her assistance with the statistical analyses and all of the patients that participated in this study.

Disclosure of Interest

No conflicts of interest to report. Authors have full control of all primary data and agree to allow the Journal of Genetic Counseling to review data if requested.


  1. Armstrong, K., Calzone, K., Stopfer, J., Fitzgerald, G., Coyne, J., & Weber, B. (2000). Factors associated with decisions about clinical BRCA1/2 testing. Cancer Epidemiology, Biomarkers & Prevention, 9(11), 1251–1254.Google Scholar
  2. Biggins, C. A., Boyd, J. L., Harrop, F. M., Madeley, P., Mindham, R. H., Randall, J. I., et al. (1992). A controlled, longitudinal study of dementia in Parkinson’s disease. Journal of Neurology, Neurosurgery and Psychiatry, 55(7), 566–571.CrossRefGoogle Scholar
  3. Bowling, B. V., Acra, E. E., Wang, L., Myers, M. F., Dean, G. E., Markle, G. C., et al. (2008). Development and evaluation of a genetics literacy assessment instrument for undergraduates. Genetics, 178(1), 15–22.PubMedCrossRefGoogle Scholar
  4. Cameron, L. D., Sherman, K. A., Marteau, T. M., & Brown, P. M. (2009). Impact of genetic risk information and type of disease on perceived risk, anticipated affect, and expected consequences of genetic tests. Health Psychology, 28(3), 307–316.PubMedCrossRefGoogle Scholar
  5. Cappelli, M., Surh, L., Humphreys, L., Verma, S., Logan, D., Hunter, A., et al. (1999). Psychological and social determinants of women’s decisions to undergo genetic counseling and testing for breast cancer. Clinical Genetics, 55(6), 419–430.PubMedCrossRefGoogle Scholar
  6. Croyle, R. T., & Lerman, C. (1999). Risk communication in genetic testing for cancer susceptibility. Journal of the National Cancer Institute Monographs (25), 59–66.Google Scholar
  7. Dahodwala, N., Connolly, J., Farmer, J., Stern, M. B., Jennings, D., & Siderowf, A. (2007). Interest in predictive testing for Parkinson’s disease: impact of neuroprotective therapy. Parkinsonism & Related Disorders, 13(8), 495–499.CrossRefGoogle Scholar
  8. Daly, M. B., Lerman, C. L., Ross, E., Schwartz, M. D., Sands, C. B., & Masny, A. (1996). Gail model breast cancer risk components are poor predictors of risk perception and screening behavior. Breast Cancer Research and Treatment, 41(1), 59–70.PubMedCrossRefGoogle Scholar
  9. de Lau, L. M., Schipper, C. M., Hofman, A., Koudstaal, P. J., & Breteler, M. M. (2005). Prognosis of Parkinson disease: risk of dementia and mortality: the Rotterdam Study. Archives of Neurology, 62(8), 1265–1269.PubMedCrossRefGoogle Scholar
  10. Elbaz, A., Grigoletto, F., Baldereschi, M., Breteler, M. M., Manubens-Bertran, J. M., Lopez-Pousa, S., et al. (1999). Familial aggregation of Parkinson’s disease: a population-based case-control study in Europe. EUROPARKINSON Study Group. Neurology, 52(9), 1876–1882.PubMedGoogle Scholar
  11. Farrer, M., Stone, J., Mata, I. F., Lincoln, S., Kachergus, J., Hulihan, M., et al. (2005). LRRK2 mutations in Parkinson disease. Neurology, 65(5), 738–740.PubMedCrossRefGoogle Scholar
  12. Flesch, R. (1948). A new readability yardstick. The Journal of Applied Psychology, 32(3), 221–233.PubMedCrossRefGoogle Scholar
  13. Goldwurm, S., Zini, M., Mariani, L., Tesei, S., Miceli, R., Sironi, F., et al. (2007). Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease. Neurology, 68(14), 1141–1143.PubMedCrossRefGoogle Scholar
  14. Healy, D. G., Falchi, M., O’Sullivan, S. S., Bonifati, V., Durr, A., Bressman, S., et al. (2008). Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson’s disease: a case-control study. Lancet Neurology, 7(7), 583–590.PubMedCrossRefGoogle Scholar
  15. Hoops, S., Nazem, S., Siderowf, A. D., Duda, J. E., Xie, S. X., Stern, M. B., et al. (2009). Validity of the MoCA and MMSE in the detection of MCI and dementia in Parkinson disease. Neurology, 73(21), 1738–1745.PubMedCrossRefGoogle Scholar
  16. Houfek, J. F., Atwood, J. R., Wolfe, R. M., Agrawal, S., Reiser, G. M., Schaefer, G. B., et al. (2008). Knowledge and beliefs about genetics and smoking among visitors and staff at a health care facility. Public Health Nursing, 25(1), 77–87.PubMedCrossRefGoogle Scholar
  17. Ishiyama, I., Nagai, A., Muto, K., Tamakoshi, A., Kokado, M., Mimura, K., et al. (2008). Relationship between public attitudes toward genomic studies related to medicine and their level of genomic literacy in Japan. American Journal of Medical Genetics. Part A, 146A(13), 1696–1706.PubMedCrossRefGoogle Scholar
  18. Kay, D. M., Bird, T. D., Zabetian, C. P., Factor, S. A., Samii, A., Higgins, D. S., et al. (2006). Validity and utility of a LRRK2 G2019S mutation test for the diagnosis of Parkinson’s disease. Genetic Testing, 10(3), 221–227.PubMedCrossRefGoogle Scholar
  19. Kelly, K., Leventhal, H., Marvin, M., Toppmeyer, D., Baran, J., & Schwalb, M. (2004). Cancer genetics knowledge and beliefs and receipt of results in Ashkenazi Jewish individuals receiving counseling for BRCA1/2 mutations. Cancer Control, 11(4), 236–244.PubMedGoogle Scholar
  20. Kincaid, J. P., Fishburne R. P. Jr., Rogers, R. L., Chissom, B. S. (1975). Derivation of new readability formulas (Automated Readability Index, Fog Count and Flesch Reading Ease Formula) for Navy enlisted personnel. Research Branch Report. Millington, TN: Naval Technical Training Command, 8–75.Google Scholar
  21. Klein, C. (2006). Implications of genetics on the diagnosis and care of patients with Parkinson disease. Archives of Neurology, 63(3), 328–334.PubMedCrossRefGoogle Scholar
  22. Klein, C., & Schlossmacher, M. G. (2006). The genetics of Parkinson disease: Implications for neurological care. Nature Clinical Practice. Neurology, 2(3), 136–146.PubMedCrossRefGoogle Scholar
  23. Klitzman, R. L. (2010). Misunderstandings concerning genetics among patients confronting genetic disease. Journal of Genetic Counseling, 19(5), 430–446.PubMedCrossRefGoogle Scholar
  24. Lewis, J. R., Konda, V., & Rubin, D. T. (2009). Genetic testing for inflammatory bowel disease: focus group analysis of patients and family members. Genetic Testing and Molecular Biomarkers, 13(4), 495–503.PubMedCrossRefGoogle Scholar
  25. Manne, S. L., Chung, D. C., Weinberg, D. S., Vig, H. S., Catts, Z., Cabral, M. K., et al. (2007). Knowledge and attitudes about microsatellite instability testing among high-risk individuals diagnosed with colorectal cancer. Cancer Epidemiology, Biomarkers & Prevention, 16(10), 2110–2117.CrossRefGoogle Scholar
  26. Marder, K., Levy, G., Louis, E. D., Mejia-Santana, H., Cote, L., Andrews, H., et al. (2003). Familial aggregation of early- and late-onset Parkinson’s disease. Annals of Neurology, 54(4), 507–513.PubMedCrossRefGoogle Scholar
  27. Mayeux, R., Denaro, J., Hemenegildo, N., Marder, K., Tang, M. X., Cote, L. J., et al. (1992). A population-based investigation of Parkinson’s disease with and without dementia. Relationship to age and gender. Archives of Neurology, 49(5), 492–497.PubMedGoogle Scholar
  28. McDaniel, S. H. (2005). The psychotherapy of genetics. Family Process, 44(1), 25–44.PubMedCrossRefGoogle Scholar
  29. McInerney-Leo, A. (2005). Genetic testing in Parkinson’s disease. Movement Disorders, 20(7), 908–909.PubMedCrossRefGoogle Scholar
  30. McInerney-Leo, A., Hadley, D. W., Gwinn-Hardy, K., & Hardy, J. (2005). Genetic testing in Parkinson’s disease. Movement Disorders, 20(1), 1–10.PubMedCrossRefGoogle Scholar
  31. Morren, M., Rijken, M., Baanders, A. N., & Bensing, J. (2007). Perceived genetic knowledge, attitudes towards genetic testing, and the relationship between these among patients with a chronic disease. Patient Education and Counseling, 65(2), 197–204.PubMedCrossRefGoogle Scholar
  32. Moscarillo, T. J., Holt, H., Perman, M., Goldberg, S., Cortellini, L., Stoler, J. M., et al. (2007). Knowledge of and attitudes about Alzheimer disease genetics: report of a pilot survey and two focus groups. Community Genetics, 10(2), 97–102.PubMedCrossRefGoogle Scholar
  33. Nasreddine, Z. S., Phillips, N. A., Bedirian, V., Charbonneau, S., Whitehead, V., Collin, I., et al. (2005). The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment. Journal of the American Geriatrics Society, 53(4), 695–699.PubMedCrossRefGoogle Scholar
  34. Ozelius, L. J., Senthil, G., Saunders-Pullman, R., Ohmann, E., Deligtisch, A., Tagliati, M., et al. (2006). LRRK2 G2019S as a cause of Parkinson’s disease in Ashkenazi Jews. The New England Journal of Medicine, 354(4), 424–425.PubMedCrossRefGoogle Scholar
  35. Paisan-Ruiz, C., Jain, S., Evans, E. W., Gilks, W. P., Simon, J., van der Brug, M., et al. (2004). Cloning of the gene containing mutations that cause PARK8-linked Parkinson’s disease. Neuron, 44(4), 595–600.PubMedCrossRefGoogle Scholar
  36. Poewe, W., & Mahlknecht, P. (2009). The clinical progression of Parkinson’s disease. Parkinsonism & Related Disorders, 15(Suppl 4), S28–S32.CrossRefGoogle Scholar
  37. Prakash, K. M., Lum, S. Y., Fook-Choong, S., & Tan, E. K. (2006). Knowledge about the genetics of essential tremor in patients and their relatives. European Journal of Neurology, 13(11), 1266–1269.PubMedCrossRefGoogle Scholar
  38. Rantala, J., Platten, U., Lindgren, G., Nilsson, B., Arver, B., Lindblom, A., et al. (2009). Risk perception after genetic counseling in patients with increased risk of cancer. Hereditary Cancer in Clinical Practice, 7(1), 15.PubMedCrossRefGoogle Scholar
  39. Rose, A., Peters, N., Shea, J. A., & Armstrong, K. (2005). The association between knowledge and attitudes about genetic testing for cancer risk in the United States. Journal of Health Communication, 10(4), 309–321.PubMedCrossRefGoogle Scholar
  40. Tan, E. K., & Jankovic, J. (2006). Genetic testing in Parkinson disease: promises and pitfalls. Archives of Neurology, 63(9), 1232–1237.PubMedCrossRefGoogle Scholar
  41. Tan, E. K., Lee, J., Hunter, C., Shinawi, L., Fook-Chong, S., & Jankovic, J. (2007). Comparing knowledge and attitudes towards genetic testing in Parkinson’s disease in an American and Asian population. Journal of the Neurological Sciences, 252(2), 113–120.PubMedCrossRefGoogle Scholar
  42. Taylor, C. A., Saint-Hilaire, M. H., Cupples, L. A., Thomas, C. A., Burchard, A. E., Feldman, R. G., et al. (1999). Environmental, medical, and family history risk factors for Parkinson’s disease: a New England-based case control study. American Journal of Medical Genetics, 88(6), 742–749.PubMedCrossRefGoogle Scholar
  43. Tison, F., Dartigues, J. F., Auriacombe, S., Letenneur, L., Boller, F., & Alperovitch, A. (1995). Dementia in Parkinson’s disease: a population-based study in ambulatory and institutionalized individuals. Neurology, 45(4), 705–708.PubMedGoogle Scholar
  44. Uitti, R. J., Baba, Y., Wszolek, Z. K., & Putzke, D. J. (2005). Defining the Parkinson’s disease phenotype: initial symptoms and baseline characteristics in a clinical cohort. Parkinsonism & Related Disorders, 11(3), 139–145.CrossRefGoogle Scholar
  45. Watner, D., Jurewicz, E. C., & Louis, E. D. (2002). Survey of essential tremor patients on their knowledge about the genetics of the disease. Movement Disorders, 17(2), 378–381.PubMedCrossRefGoogle Scholar
  46. Zeger, S. L., Liang, K. Y., & Albert, P. S. (1988). Models for longitudinal data: a generalized estimating equation approach. Biometrics, 44(4), 1049–1060.PubMedCrossRefGoogle Scholar
  47. Zimprich, A., Biskup, S., Leitner, P., Lichtner, P., Farrer, M., Lincoln, S., et al. (2004). Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron, 44(4), 601–607.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2011

Authors and Affiliations

  • Dana Clay Falcone
    • 1
  • Elisabeth McCarty Wood
    • 1
  • Sharon X. Xie
    • 2
  • Andrew Siderowf
    • 3
  • Vivianna M. Van Deerlin
    • 1
  1. 1.Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease ResearchUniversity of PennsylvaniaPhiladelphiaUSA
  2. 2.Department of Biostatistics and EpidemiologyUniversity of PennsylvaniaPhiladelphiaUSA
  3. 3.Department of NeurologyPennsylvania HospitalPhiladelphiaUSA

Personalised recommendations