Dataset Information

Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.

ABSTRACT: PURPOSE:Genetic testing for Parkinson disease (PD) has not been widely used in clinical practice. In preparation for upcoming precision medicine-designed clinical trials for GBA and LRRK2, we evaluated movement disorders specialists' current practice, knowledge, attitudes, and barriers to genetic testing in PD. METHODS:An anonymous questionnaire was sent to movement disorders specialists at 146 Parkinson Study Group (PSG) sites in the United States (n?=?131) and Canada (n?=?15) to assess their knowledge and attitudes about genetic testing for PD. RESULTS:One hundred seventy-eight (47.6%) PSG clinicians completed the questionnaire. Forty-one percent of respondents had not referred any PD patients for genetic testing in the last year and >80% reported referring fewer than 11 patients over the same period. Most common reasons for not referring for genetic testing included lack of insurance coverage/cost to the patient and lack of perceived utility. On a scale of 0-100, the mean level of comfort in respondents' own ability to genetically counsel PD patients on GBA and LRRK2 was 52 (SD?=?28). Sixty percent of clinicians correctly answered all questions about the inheritance and penetrance of GBA and LRRK2 variants. CONCLUSIONS:There is an urgent need to increase knowledge and reduce practical barriers to genetic counseling and testing in PD.

SUBMITTER: Alcalay RN

PROVIDER: S-EPMC7056638 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.

Alcalay Roy N RN Kehoe Caitlin C Shorr Evan E Battista Roseanna R Hall Anne A Simuni Tanya T Marder Karen K Wills Anne-Marie AM Naito Anna A Beck James C JC Schwarzschild Michael A MA Nance Martha M

Genetics in medicine : official journal of the American College of Medical Genetics 20191104 3

<h4>Purpose</h4>Genetic testing for Parkinson disease (PD) has not been widely used in clinical practice. In preparation for upcoming precision medicine-designed clinical trials for GBA and LRRK2, we evaluated movement disorders specialists' current practice, knowledge, attitudes, and barriers to genetic testing in PD.<h4>Methods</h4>An anonymous questionnaire was sent to movement disorders specialists at 146 Parkinson Study Group (PSG) sites in the United States (n = 131) and Canada (n = 15) to ...[more]

PMID: 31680121

Similar Datasets

Project description:BackgroundIncremental hemodialysis, a strategy to individualize dialysis prescription based on residual kidney function, may be associated with enhanced quality of life and decreased health care costs compared with conventional hemodialysis.ObjectiveWe surveyed practicing Canadian nephrologists to assess knowledge, perceptions, and practice pattern on the use of incremental hemodialysis.Design/settingWe distributed a cross-sectional, web-based survey. We asked about incremental hemodialysis prescribing practices, including frequency of prescription, clinical factors used to determine suitability for treatment, and barriers to implementation. The survey was conducted from September 21 to October 30, 2020.ParticipantsWe distributed the survey to practicing Canadian nephrologists identified from a private membership list of the Canadian Society of Nephrology (CSN), as well as to nephrologists named on a publicly available national list of practicing Canadian nephrologists created from provincial College of Physician registries. These were samples of convenience.MethodsWe conducted descriptive analysis of categorical data including frequencies for nominal variables and measures of central tendency (mean) and dispersion (standard deviation) for ordinal variables. We used chi-square analysis to identify association between participant and practice characteristics and their opinions and attitudes toward incremental dialysis. We used simple thematic analysis on free-text responses on questions regarding the prescription of incremental hemodialysis, focusing on age and baseline management of cardiac and noncardiac comorbidities.ResultsThe response rate was 35% (243/691). Most (138/211, 65%) of the participants prescribed incremental hemodialysis using an individualized approach at the nephrologist's discretion. Most participants (200/203, 98%) did not report any policy for implementation. Residual urine output was identified as the most important factor for eligibility (112/172, 65%), followed by electrolyte stability (76/172, 44%) and patient goals of care (69/117, 40%). Most participants agreed that dialysis prescriptions should take residual kidney function into consideration; however, 74% of the participants disagreed with a statement that there was strong evidence supporting incremental hemodialysis. Barriers identified included patient safety, patient acceptance of dose escalation, and logistics of scheduling. Despite these barriers, 82% of participants felt that that incremental hemodialysis is feasible with their current resources and 78% agreed that with specific criteria, it is a safe option.LimitationsThe generalizability of our study is limited by its response rate of 35%; however, this is comparable with typical response rates seen in electronic surveys. Most participants practice in an academic setting, which may have introduced bias to the results.ConclusionsDespite the perception of limited evidence and a lack of guidance on implementation, incremental hemodialysis is frequently practiced by Canadian nephrologists. Barriers to implementation were identified, highlighting the need for research to guide practice.

Dataset Information

Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.

Publications

Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure