Knowledge and attitudes towards genetic testing in those affected with Parkinson’s disease

Abstract

Advances in genetic tests provide valuable information for clinicians and patients around risks and inheritance of Parkinson's Disease (PD); however, questions arise whether those affected or at risk of PD will want genetic testing, particularly given that there are no preventive or diseasemodifying therapies currently available. This study sought to determine knowledge and attitudes toward genetic testing for those affected with PD. A cross-sectional study was undertaken using a standardized questionnaire with six multi-choice genetic knowledge and 17 multi-choice attitude items. Participants were selected from a registry of people affected with PD living in Queensland, Australia. Half of the selected index cases had a family history of PD. Ordinal regression was used to evaluate the association between support for genetic testing and demographic, knowledge, and other attitudinal factors. The level of genetic knowledge was relatively low (37 % correct responses). The vast majority supported diagnostic testing (97 %) and 90 % would undertake a genetic test themselves. Support for predictive was lower (78 %) and prenatal genetic testing had the least support (58 %). Benefits of testing were identified as the ability to know the child's risk, seek therapies, and helping science with finding a cure. Concerns about genetic testing included potential emotional reactions and test accuracy. Genetic knowledge was not significantly associated with attitudes towards genetic testing. Patients with PD have strong interest in genetic testing for themselves with support for diagnostic testing but less support for predictive and prenatal testing. Genetic knowledge was unrelated to testing attitudes.

Universal Tumor Screening for Lynch Syndrome: Perspectives of Patients Regarding Willingness and Informed Consent

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Perceptions and Attitudes About Genetic Counseling Among Residents of a Midwestern Rural Area

“…Such research may offer some insight as to how others perceive genetic counseling as these are related services, and in our anecdotal experience, often not easily distinguished by those outside the profession. A majority of these studies involve persons at-risk for a specific disease (e.g., Klitzman 2010;Meiser et al 2008;Scuffham et al 2014; Thomas et al 2007). Population-based studies examining attitudes toward genetic testing/screening are less numerous.…”

Integrated Sequencing & Array Comparative Genomic Hybridization in Familial Parkinson’s Disease

“…Indeed, surveys of patients and caregivers reveal a high level of interest in genetic testing for PD. 18,19 Exome sequencing (ES) has accelerated the discovery of PD genetic risk factors [20][21][22] and is ideally suited to identify single nucleotide variants (SNVs) in genetically heterogeneous diseases. In one study of adult patients referred for diverse clinical indications, ES had a diagnostic yield of 10% in individuals over 30 years of age.…”