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July 11, 2017Journal of Genetic Counseling

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

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Why the study?

What factors are associated with the uptake of predictive genetic testing and cardiac evaluation in children at risk for an inherited arrhythmia or cardiomyopathy?

Population

97 at-risk children under 18 years of age from 58 families found to carry a pathogenic variant for long QT…

Design

Cohort

Authors

SCSusan ChristianUniversity of AlbertaJAJoseph AtallahPediatric CardiologyRCRobin CleggUniversity of Calgary

Discussion

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Implication

Highlights barriers to uptake of testing in at-risk minors; leaves open whether interventions improve adherence in inherited arrhythmia families.

Structured PICO

What factors are associated with the uptake of predictive genetic testing and cardiac evaluation in children at risk for an inherited arrhythmia or cardiomyopathy?

P
Population
97 at-risk children under 18 years of age from 58 families found to carry a pathogenic variant for long QT syndrome, hypertrophic cardiomyopathy, or arrhythmogenic right ventricular cardiomyopathy.
I
Intervention
Predictive genetic testing and cardiac evaluation
O
Outcome
Uptake of genetic testing and cardiac evaluation

Uptake of predictive genetic testing and cardiac evaluation in at-risk children is influenced by genetic specialist recommendations and parental phenotype, highlighting the need for family education.

Cite This Study

Christian et al. (2017) studied this question.

synapsesocial.com/papers/6a713e3035aa2c282ce28e87https://doi.org/10.1007/s10897-017-0129-0

Topics

CardiomyopathyHypertrophic cardiomyopathy
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Constructing “best interests”: Genetic testing of children in families with hypertrophic cardiomyopathy2011 · 32 citations
  2. 2Factors Associated with Uptake of Genetics Services for Hypertrophic Cardiomyopathy2015 · 18 citations
  3. 3Making the Decision to Participate in Predictive Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy2014 · 13 citations
  4. 4Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: A cross‐sectional cohort study2009 · 134 citations
  5. 5Parent decision‐making around the genetic testing of children for germline TP53 mutations2014 · 51 citations