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Journal of Community Genetics

, Volume 9, Issue 3, pp 257–262 | Cite as

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

  • 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
Original Article

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.

Keywords

Inherited arrhythmia Cardiovascular genetics Sudden death Cardiomyopathy Channelopathy 

Notes

Acknowledgements

The authors thank the survey participants. This study was unfunded. Dr. Roston is supported by the Queen Elizabeth II Graduate Scholarship at the University of Alberta. Drs. Sanatani and Krahn hold grants from the Heart and Stroke Foundation of Canada (G-13-0002775 and G-14-0005732), and Dr. Krahn receives support from the Canadian Institute of Health Research (343256). Dr. Laksman is the UBC Dr. Charles Kerr Distinguished Scholar in Cardiovascular Genetics. Dr. Krahn is the Sauder Family and Heart and Stroke Foundation Chair in Cardiology, and the Paul Brunes Chair in Heart Rhythm Disorders.

Compliance with ethical standards

Conflict of interest

None of the authors have any conflicts of interest to declare, and all had full access to the data, contributed to the study, and take responsibility for its integrity.

Human studies and informed consent

All procedures followed were in accordance with the ethical standards of the Helsinki Declaration of 1975, as revised in 2000 (5). Consent for participation was presumed based on a willingness to complete the survey, and respondents could remain anonymous at their own discretion.

Animal studies

No animal studies were carried out by the authors for this article.

Supplementary material

12687_2017_348_MOESM1_ESM.docx (24 kb)
Supplemental Figure S1 A sample of the study survey. (DOCX 23 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2017

Authors and Affiliations

  • Thomas M. Roston
    • 1
    • 2
    • 3
  • Laura Dewar
    • 4
  • Sonia Franciosi
    • 5
  • Julie Hathaway
    • 1
  • Kirsten Bartels
    • 1
  • Taylor Cunningham
    • 5
  • Karen A. Gibbs
    • 1
  • Sam Sheps
    • 6
  • Zachary W. M. Laksman
    • 1
    • 2
  • Shubhayan Sanatani
    • 1
    • 2
    • 5
  • Andrew D. Krahn
    • 1
    • 2
    • 7
  1. 1.BC Inherited Arrhythmia ProgramVancouverCanada
  2. 2.Heart Rhythm Vancouver, Division of CardiologyUniversity of British ColumbiaVancouverCanada
  3. 3.University of AlbertaEdmontonCanada
  4. 4.Simon Fraser UniversityBurnabyCanada
  5. 5.Children’s Heart CentreBC Children’s HospitalVancouverCanada
  6. 6.University of British ColumbiaVancouverCanada
  7. 7.Heart Rhythm VancouverVancouverCanada

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