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The accessibility and utilization of genetic testing for inherited heart rhythm disorders: a Canadian cross-sectional survey study.

ABSTRACT: The genetic basis of many sudden death-related conditions has been elucidated. These include inherited arrhythmias and arrhythmogenic cardiomyopathies, termed inherited heart rhythm disorders (IHRD). Advising on and interpreting genetic testing is challenging for the general cardiologist. This has led to the development of interdisciplinary clinics for IHRD in varying stages of establishment in Canada. We sought the viewpoints and patterns of practice of Canadian IHRD experts, and assessed their ability to access genetic testing for IHRD using a national cross-sectional survey. Of 56 participants, most were physicians (68%) or genetic counselors (19%). Despite working collaboratively, most genetic counselors (59%) were either not satisfied or only somewhat satisfied with their relationships with physicians. Ninety percent of participants were involved in offering genetic evaluation, including 80% who felt that testing was usually/always accessible. Most offered genetic testing to confirm clinical diagnosis and/or direct family screening. Post-mortem genetic analysis was sought by 69% of respondents; however, a lack of retained tissue and/or poor tissue preparation hindered this process. Family screening was usually recommended in the setting of a pathogenic/likely pathogenic variant. The most commonly perceived barrier to genetic testing was cost to the healthcare system. More than a quarter of patients waited ??6 months for funding. An ability to engage at-risk relatives was rated as limited/poor by 34% of participants. Despite the establishment of several interdisciplinary clinics, timely access to affordable testing, supported by strong team communication, continues to be a barrier to genetic testing in Canada.

SUBMITTER: Roston TM

PROVIDER: S-EPMC6002300 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature

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The accessibility and utilization of genetic testing for inherited heart rhythm disorders: a Canadian cross-sectional survey study.

Roston Thomas M TM Dewar Laura L Franciosi Sonia S Hathaway Julie J Bartels Kirsten K Cunningham Taylor T Gibbs Karen A KA Sheps Sam S Laksman Zachary W M ZWM Sanatani Shubhayan S Krahn Andrew D AD

Journal of community genetics 20171123 3

The genetic basis of many sudden death-related conditions has been elucidated. These include inherited arrhythmias and arrhythmogenic cardiomyopathies, termed inherited heart rhythm disorders (IHRD). Advising on and interpreting genetic testing is challenging for the general cardiologist. This has led to the development of interdisciplinary clinics for IHRD in varying stages of establishment in Canada. We sought the viewpoints and patterns of practice of Canadian IHRD experts, and assessed their ...[more]

PMID: 29170972

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Project description:BackgroundCardiovascular disease continues to be the leading cause of death globally. Clinical practice guidelines aimed at improving disease management and positively impacting major cardiac adverse events recommend genetic testing for inherited cardiovascular conditions such as dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), hereditary amyloidosis, and familial hypercholesterolemia (FH); however, little is known about how consistently practitioners order genetic testing for these conditions in routine clinical practice. This study aimed to assess the adoption of guideline-directed genetic testing for patients diagnosed with DCM, HCM, LQTS, hereditary amyloidosis, or FH.MethodsThis retrospective cohort study captured real-world evidence of genetic testing from ICD-9-CM and ICD-10-CM codes, procedure codes, and structured text fields of de-identified patient records in the Veradigm Health Insights Ambulatory EHR Research Database linked with insurance claims data. Data analysis was conducted using an automated electronic health record analysis engine. Patient records in the Veradigm database were sourced from more than 250,000 clinicians serving over 170 million patients in outpatient primary care and specialty practice settings in the United States and linked insurance claims data from public and private insurance providers. The primary outcome measure was evidence of genetic testing within six months of condition diagnosis.ResultsBetween January 1, 2017, and December 31, 2021, 224,641 patients were newly diagnosed with DCM, HCM, LQTS, hereditary amyloidosis, or FH and included in this study. Substantial genetic testing care gaps were identified. Only a small percentage of patients newly diagnosed with DCM (827/101,919; 0.8%), HCM (253/15,507; 1.6%), LQTS (650/56,539; 1.2%), hereditary amyloidosis (62/1,026; 6.0%), or FH (718/49,650; 1.5%) received genetic testing.ConclusionsGenetic testing is underutilized across multiple inherited cardiovascular conditions. This real-world data analysis provides insights into the delivery of genomic healthcare in the United States and suggests genetic testing guidelines are rarely followed in practice.

Project description:BackgroundSubstantial changes in abortion care regulations, available medications and national clinical practice guidelines have occurred since a 2012 national Canadian Abortion Provider Survey (CAPS). We developed and piloted the CAPS 2019 survey instrument to explore changes of the abortion provider workforce, their clinical care as well as experiences with stigma and harassment.MethodsWe undertook development and piloting in three phases: (1) development of the preliminary survey sections and questions based on the 2012 survey instrument, (2) content validation and feasibility of including certain content aspects via a modified Delphi Method with panels of clinical and research experts, and (3) pilot testing of the draft survey for face validity and clarity of language; assessing usability of the web-based Research Electronic Data Capture platform including the feasibility of complex skip pattern functionality. We performed content analysis of phase 2 results and used a general inductive approach to identify necessary survey modifications.ResultsIn phase 1, we generated a survey draft that reflected the changes in Canadian abortion care regulations and guidelines and included questions for clinicians and administrators providing first and second trimester surgical and medical abortion. In phase 2, we held 6 expert panel meetings of 5-8 participants each representing clinicians, administrators and researchers to provide feedback on the initial survey draft. Due to the complexity of certain identified aspects, such as interdisciplinary collaboration and interprovincial care delivery differences, we revised the survey sections through an iterative process of meetings and revisions until we reached consensus on constructs and questions to include versus exclude for not being feasible. In phase 3, we made minor revisions based on pilot testing of the bilingual, web-based survey among additional experts chosen to be widely representative of the study population. Demonstrating its feasibility, we included complex branching and skip pattern logic so each respondent only viewed applicable questions based on their prior responses.ConclusionsWe developed and piloted the CAPS 2019 survey instrument suitable to explore characteristics of a complex multidisciplinary workforce, their care and experience with stigma on a national level, and that can be adapted to other countries.

Project description:BackgroundThere is a paucity of research assessing cultural competency among Canadian chiropractors. Therefore, the aims of this study were to (1) measure cultural competency among Canadian chiropractors, (2) understand chiropractors' perspectives of challenges and attitudes regarding the delivery of chiropractic services to equity-seeking communities, and (3) assess contextual factors associated with cultural competency.MethodsWe conducted a cross-sectional survey of members of the Canadian Chiropractic Association (CCA) (May-July 2021). The survey instrument consisted of 57 questions related to demographics, cultural competency, perceptions about health disparities, and challenges in delivery of rehabilitation. Cultural competency was measured using the Cultural Awareness and Sensitivity and Cultural Competence Behaviours subscales of the Cultural Competence Assessment Instrument. We conducted a multivariate linear regression to assess factors that may be associated with cultural competency.ResultsA total of 3143 CCA members responded (response rate of 41%). Mean scores for the Cultural Awareness and Sensitivity subscale were 5.8/7 (95% CI 5.7; 5.8) and 4.2/7 (95% CI 4.1; 4.2) for the Cultural Competence Behaviour subscale. Most chiropractors (72-78%) reported observing important cultural health disparities across various care-related outcomes. Cost of services and language were identified as barriers to providing care to equity-seeking communities. Cultural Awareness and Sensitivity scores were weakly associated with gender (men), years of clinical practice, cultural health disparities, the statement "I think some people have an agenda to look for discrimination even where it does not exist (DEI attitudes)," race (Caucasian), and prior DEI training, (R2 = 0.15, p < 0.0001). Cultural Competence Behaviour scores were weakly associated with race (Caucasian), cultural health disparities, prior DEI training, increased years of clinical experience, and higher Cultural Awareness and Sensitivity scores (R2 = 0.19, p < 0.0001).ConclusionThis study provides the first description of cultural competency within the chiropractic profession in Canada. Findings suggest a gap between knowledge and behaviour and uncover several barriers and challenges that may inform the development of profession-specific training in cultural competence.

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The accessibility and utilization of genetic testing for inherited heart rhythm disorders: a Canadian cross-sectional survey study.

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The accessibility and utilization of genetic testing for inherited heart rhythm disorders: a Canadian cross-sectional survey study.

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