Journal of Genetic Counseling

, Volume 27, Issue 1, pp 124–130 | Cite as

Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy

  • Susan ChristianEmail author
  • Joseph Atallah
  • Robin Clegg
  • Michael Giuffre
  • Cathleen Huculak
  • Tara Dzwiniel
  • Jillian Parboosingh
  • Sherryl Taylor
  • Martin Somerville
Original Research


Predictive genetic testing in minors should be considered when clinical intervention is available. Children who carry a pathogenic variant for an inherited arrhythmia or cardiomyopathy require regular cardiac screening and may be prescribed medication and/or be told to modify their physical activity. Medical genetics and pediatric cardiology charts were reviewed to identify factors associated with uptake of genetic testing and cardiac evaluation for children at risk for long QT syndrome, hypertrophic cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy. The data collected included genetic diagnosis, clinical symptoms in the carrier parent, number of children under 18 years of age, age of children, family history of sudden cardiac arrest/death, uptake of cardiac evaluation and if evaluated, phenotype for each child. We identified 97 at risk children from 58 families found to carry a pathogenic variant for one of these conditions. Sixty six percent of the families pursued genetic testing and 73% underwent cardiac screening when it was recommended. Declining predictive genetic testing was significantly associated with genetic specialist recommendation (p < 0.001) and having an asymptomatic carrier father (p = 0.006). Cardiac evaluation was significantly associated with uptake of genetic testing (p = 0.007). This study provides a greater understanding of factors associated with uptake of genetic testing and cardiac evaluation in children at risk of an inherited arrhythmia or cardiomyopathy. It also identifies a need to educate families about the importance of cardiac evaluation even in the absence of genetic testing.


Genetic testing Children Predictive Long QT syndrome Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy 



This study was conducted to fulfill requirements for doctorate studies.

Compliance with Ethical Standards



Conflict of Interest

Susan Christian, Joseph Atallah, Robin Clegg, Michael Giuffre, Cathleen Huculak, Tara Dzwiniel, Jillian Parboosingh, Sherryl Taylor, and Martin Somerville declare that they have no conflicts of interest.

Ethical Approval

Ethics approval was obtained from the University of Alberta and the University of Calgary.

Human Studies and Informed Consent

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Consent was waived as the data was collated and presented anonymously.

Animal Studies

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


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Copyright information

© National Society of Genetic Counselors, Inc. 2017

Authors and Affiliations

  1. 1.Department of Medical GeneticUniversity of AlbertaEdmontonCanada
  2. 2.Department of PediatricsUniversity of AlbertaEdmontonCanada
  3. 3.Department of PediatricsUniversity of CalgaryCalgaryCanada
  4. 4.Department of Medical Genetics, Alberta Health ServicesCalgaryCanada

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