Genetic testing and Parkinson disease: assessment of patient knowledge, attitudes, and interest.
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ABSTRACT:
SUBMITTER: Falcone DC
PROVIDER: S-EPMC3280083 | biostudies-other | 2011 Aug
REPOSITORIES: biostudies-other
Publications
Genetic testing and Parkinson disease: assessment of patient knowledge, attitudes, and interest.
Falcone Dana Clay DC Wood Elisabeth McCarty EM Xie Sharon X SX Siderowf Andrew A Van Deerlin Vivianna M VM
Journal of genetic counseling 20110408 4
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 ...[more]
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Project description:ObjectivesAs genetic testing is becoming more widely commercially available for Parkinson's disease (PD) and may have implications regarding clinical outcomes for deep brain stimulation (DBS) and other therapies, we aimed to determine patient knowledge and attitudes towards genetic testing.MethodsA sample of 88 PD subjects with bilateral STN-DBS completed a Genetic Attitudes Questionnaire (GAQ). Knowledge and attitudes towards genetic testing were assessed.ResultsThe mean percent of correct responses regarding genetic testing knowledge was 58.5%. Nearly 90% of subjects were unfamiliar with Genetic Information Nondiscrimination Act (GINA). The most important reasons subjects cited in deciding whether to undergo genetic testing included (1) to be a candidate for clinical trials if positive, (2) to learn that they do not carry a mutation, and (3) because a healthcare provider had recommended it. Individuals who influence decision-making include spouses and children. About 88% of subjects would share results with spouses, children, and siblings.DiscussionThese results reveal that there is a major knowledge gap regarding genetic testing in PD and the implications of testing results on treatment, work, insurance, and privacy. Also, subjects would mainly seek genetic testing to participate in clinical trials, with spouses and children being the key stakeholders in decision-making.
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Project description: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 disease-modifying 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.
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Project description:Variable health literacy and genetic knowledge may pose significant challenges to engaging the general public in personal genomics, specifically with respect to promoting risk comprehension and healthy behaviors.We are conducting a multistage study of individual responses to genomic risk information for Type 2 diabetes mellitus. A total of 300 individuals were recruited from the general public in Durham, North Carolina: 60% self-identified as White; 70% female; and 65% have a college degree. As part of the baseline survey, we assessed genetic knowledge and attitudes toward genetic testing.Scores of factual knowledge of genetics ranged from 50% to 100% (average=84%), with significant differences in relation to racial groups, the education level, and age. Scores were significantly higher on questions pertaining to the inheritance and causes of disease (mean score 90%) compared to scientific questions (mean score 77.4%). Scores on the knowledge survey were significantly higher than scores from European populations. Participants' perceived knowledge of the social consequences of genetic testing was significantly lower than their perceived knowledge of the medical uses of testing. More than half agreed with the statement that testing may affect a person's ability to obtain health insurance (51.3%) and 16% were worried about the consequences of testing for chances of finding a job.Despite the relatively high educational status and genetic knowledge of the study population, we find an imbalance of knowledge between scientific and medical concepts related to genetics as well as between the medical applications and societal consequences of testing, suggesting that more effort is needed to present the benefits, risks, and limitations of genetic testing, particularly, at the social and personal levels, to ensure informed decision making.
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Project description:Knowledge, attitudes, and patient preferences about genetic testing and subsequent risk management for cancer prevention among average risk populations are understudied, especially among Hispanics. This study was to assess these items by conducting an in-person survey in this understudied population. We conducted in-person surveys using a self-administered, structured questionnaire among young women in 2017. Survey questions were adapted from other validated surveys. This study had 677 participants in the final analyses. Data were collected in 2017 and analyzed in 2018 and 2019. Participants had little knowledge about genes or breast cancer risk, but most felt that genetic testing for cancer prevention is "a good idea" (87.0%), "a reassuring idea" (84.0%), and that "everyone should get the test" (87.7%). Most (64.0%) of these women would pay up to $25 for the test, 29.3% would pay $25-$500, and < 10% would pay more than $500 for the test. When asked about a hypothetical scenario of high breast cancer risk, 34.2% Hispanics and 24.5% non-Hispanics would choose chemoprevention. Women would be less likely to choose risk reduction procedures, such as mastectomy (19.6% among Hispanics and 15.1% among non-Hispanics) and salpingo-oophorectomy (11.8% among Hispanics and 10.7% among non-Hispanics). In this low-income, mostly Hispanic population, knowledge about genetic testing and cancer risk is poor, but most have positive opinions about genetic testing for cancer prevention. However, their strong preference for chemoprevention and lesser preference for prophylactic surgeries in a hypothetical scenario underscore the importance of genetic counseling and education.
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Project description:BackgroundThe twenty first century can be called the genomic era referring to the rapid development of genetics, and the beginning of genomic medicine. An initial step towards genomic medicine is to evaluate the knowledge and attitude towards genetic testing among different populations. The aims of this study were to assess the genetic knowledge and attitude towards genetic testing among the Jordanian population and patients with immune diseases. In addition, we evaluated the association between knowledge, attitude and several demographic factors of the population.MethodsThis study was performed using an online questionnaire that was distributed to respondents from different regions of Jordan.ResultsA total of 1149 participants were recruited from the Jordanian population. Overall factual genetic knowledge of the participants was good (65.4%), with education level, working or studying in a health-related field and household average monthly income being significant predictors of factual knowledge scores (P = 0.03, P < 0.001 and P < 0.001, respectively). However, factual knowledge results revealed that scores of questions related to diseases were significantly higher than scores of gene-related scientific facts (P < 0.01). Participants of our study reported to have low perceived knowledge on medical uses (39.5%) and social consequences (23.9%) of genetic testing. Regarding the participants' attitudes, favorable attitudes towards genetic testing were prevailing (91.5%). Favorable attitudes were more prominent among higher educated participants, and participants with higher scores of factual knowledge.ConclusionDespite the fact that our Jordanian-based study revealed a good level of genetic knowledge as well as a favorable attitude towards genetic testing, we realized an imbalance of knowledge between gene-related scientific facts and disease-related concepts as well as between factual and perceived genetic knowledge, which indicates the necessity of increasing the awareness about genetic testing in order to ensure that individuals can take informed decisions that help in the employment of personalized medicine.
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Project description:BackgroundCancer predisposition syndromes (CPS) impact about 10% of patients with pediatric cancer. Genetic testing (CPS-GT) has multiple benefits, but few studies have described parent and child knowledge and attitudes regarding CPS-GT decision-making. This study examined parent and patient CPS-GT decision-making knowledge and attitudes.ProcedureEnglish- or Spanish-speaking parents of children with pediatric cancer and patients with pediatric cancer ages 15-18 within 12 months of diagnosis or relapse were eligible to participate. Seventy-five parents and 19 parent-patient dyads (N = 94 parents, 77.7% female, 43.6% Latino/a/Hispanic; 19 patients, 31.6% female) completed surveys measuring CPS-GT-related beliefs. Independent samples t-tests compared parent responses across sociodemographic characteristics and parent-patient responses within dyads.ResultsSpanish-speaking parents were significantly more likely than English-speaking parents to believe that CPS-GT not being helpful (p < .001) and possibly causing personal distress (p = .002) were important considerations for deciding whether to obtain CPS-GT. Parents with less than four-year university education, income less than $75,000, or Medicaid (vs. private insurance) were significantly more likely to endorse that CPS-GT not being helpful was an important consideration for deciding whether to obtain CPS-GT (p < .001). Parents felt more strongly than patients that they understood what CPS-GT was (p = .01) and that parents should decide whether patients under 18 should receive CPS-GT (p = .002).ConclusionsSpanish-speaking parents and parents with lower socioeconomic statuses were more strongly influenced by the potential disadvantages of CPS-GT in CPS-GT decision-making. Parents felt more strongly than patients that parents should make CPS-GT decisions. Future studies should investigate mechanisms behind these differences and how to best support CPS-GT knowledge and decision-making.
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Project description:The use of predictive genetic testing, particularly for risk profiling in non-communicable diseases (NCDs), has the potential to benefit public health by decreasing the disease burden and alleviating the pressure on healthcare. It is thus important to assess knowledge and uptake among stakeholders. This study aimed to assess end users' (community, medical practitioners and medical students) knowledge and attitudes regarding the use and support of genomic medicine. A descriptive cross-sectional survey was conducted in Kwazulu-Natal (KZN) among 3 groups of stakeholders (n = 170): medical practitioners from both private and public healthcare, medical students from UKZN and community members represented by teachers. Three structured questionnaires using a Likert scale were administered. Responses were stratified by practice type, and a scoring scale was developed. Principal component analysis (PCA) was used to reduce data on all constructs that made up each variable. All three groups showed adequate knowledge and a positive attitude towards use, apart from medical students who were not as keen to support future use in their own practice. Although medical practitioners supported the use of this technology, with necessary guidelines, expertise and affordability, only 18% from private practice reported having used it. PCA reduced data to fewer parsimonious constructs for all 3 groups: common threads included an awareness that genetic testing may improve health and disease outcomes; guidelines for use; and the provision of education to increase awareness, training to bolster expertise and confidence to use these services. Participants in this study attributed a lack of uptake to limited expertise and professional support, and a lack of legislative guidelines. We recommend updating continuing professional development for medical practitioners and promoting community education concomitantly. Provision of guidelines and increased accessibility to resources are important.
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