Top

Published in:

01-08-2011 | Original Research

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

Authors: Dana Clay Falcone, Elisabeth McCarty Wood, Sharon X. Xie, Andrew Siderowf, Vivianna M. Van Deerlin

Published in: Journal of Genetic Counseling | Issue 4/2011

Abstract

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.

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.

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.CrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

Croyle, R. T., & Lerman, C. (1999). Risk communication in genetic testing for cancer susceptibility. Journal of the National Cancer Institute Monographs (25), 59–66.

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.CrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMed

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.PubMedCrossRef

Flesch, R. (1948). A new readability yardstick. The Journal of Applied Psychology, 32(3), 221–233.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMed

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.

Klein, C. (2006). Implications of genetics on the diagnosis and care of patients with Parkinson disease. Archives of Neurology, 63(3), 328–334.PubMedCrossRef

Klein, C., & Schlossmacher, M. G. (2006). The genetics of Parkinson disease: Implications for neurological care. Nature Clinical Practice. Neurology, 2(3), 136–146.PubMedCrossRef

Klitzman, R. L. (2010). Misunderstandings concerning genetics among patients confronting genetic disease. Journal of Genetic Counseling, 19(5), 430–446.PubMedCrossRef

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.PubMedCrossRef

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.CrossRef

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.PubMedCrossRef

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.PubMed

McDaniel, S. H. (2005). The psychotherapy of genetics. Family Process, 44(1), 25–44.PubMedCrossRef

McInerney-Leo, A. (2005). Genetic testing in Parkinson’s disease. Movement Disorders, 20(7), 908–909.PubMedCrossRef

McInerney-Leo, A., Hadley, D. W., Gwinn-Hardy, K., & Hardy, J. (2005). Genetic testing in Parkinson’s disease. Movement Disorders, 20(1), 1–10.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

Poewe, W., & Mahlknecht, P. (2009). The clinical progression of Parkinson’s disease. Parkinsonism & Related Disorders, 15(Suppl 4), S28–S32.CrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

Tan, E. K., & Jankovic, J. (2006). Genetic testing in Parkinson disease: promises and pitfalls. Archives of Neurology, 63(9), 1232–1237.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMed

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.CrossRef

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.PubMedCrossRef

Zeger, S. L., Liang, K. Y., & Albert, P. S. (1988). Models for longitudinal data: a generalized estimating equation approach. Biometrics, 44(4), 1049–1060.PubMedCrossRef

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.PubMedCrossRef

Title: Genetic Testing and Parkinson Disease: Assessment of Patient Knowledge, Attitudes, and Interest
Authors: Dana Clay Falcone
Elisabeth McCarty Wood
Sharon X. Xie
Andrew Siderowf
Vivianna M. Van Deerlin
Publication date: 01-08-2011
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 4/2011
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-011-9362-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 4/2011

RETRACTED ARTICLE: Gender Testing in Sport: The Right of Genetic Diversity and the Right to Not Be Harmed

Self Diagnosis of Lynch Syndrome Using Direct to Consumer Genetic Testing: A Case Study

Extended Family Impact of Genetic Testing: The Experiences of X-linked Carrier Grandmothers

The Use of Family History Questionnaires: An Examination of Genetic Risk Estimates and Genetic Testing Eligibility in the Non-responder Population

Testing of Collegiate Athletes for Sickle Cell Trait: What We, as Genetic Counselors Should Know

Extreme Values of Maternal Serum Analytes in Second Trimester Screening: Looking Beyond Trisomy and NTD’s