| Title |
The accessibility and utilization of genetic testing for inherited heart rhythm disorders: a Canadian cross-sectional survey study
|
|---|---|
| Published in |
Journal of Community Genetics, November 2017
|
| DOI | 10.1007/s12687-017-0348-y |
| Pubmed ID | |
| Authors |
Thomas M. Roston, Laura Dewar, Sonia Franciosi, Julie Hathaway, Kirsten Bartels, Taylor Cunningham, Karen A. Gibbs, Sam Sheps, Zachary W. M. Laksman, Shubhayan Sanatani, Andrew D. Krahn |
| 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. |
X Demographics
The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Canada | 4 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 75% |
| Practitioners (doctors, other healthcare professionals) | 1 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 19 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 3 | 16% |
| Other | 2 | 11% |
| Researcher | 2 | 11% |
| Student > Master | 2 | 11% |
| Professor > Associate Professor | 2 | 11% |
| Other | 2 | 11% |
| Unknown | 6 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 5 | 26% |
| Agricultural and Biological Sciences | 2 | 11% |
| Medicine and Dentistry | 2 | 11% |
| Physics and Astronomy | 1 | 5% |
| Economics, Econometrics and Finance | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 8 | 42% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 June 2018.
All research outputs
#7,441,260
of 23,008,860 outputs
Outputs from Journal of Community Genetics
#155
of 369 outputs
Outputs of similar age
#147,708
of 438,098 outputs
Outputs of similar age from Journal of Community Genetics
#7
of 13 outputs
Altmetric has tracked 23,008,860 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
So far Altmetric has tracked 369 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has gotten more attention than average, scoring higher than 57% of its peers.
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We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one is in the 46th percentile – i.e., 46% of its contemporaries scored the same or lower than it.