What is the clinical evidence from this study?

Study design: Cross-Sectional. Population: Hypertrophic cardiomyopathy mutation carriers (n=143). Intervention: Predictive genetic counseling and DNA testing. Primary outcome: Opinion on received cardiogenetic care.

What question did this study set out to answer?

The aim is to evaluate the perspectives of hypertrophic cardiomyopathy mutation carriers on genetic counseling and cardiac care they received.

June 16, 2009American Journal of Medical Genetics Part AOpen Access

Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: The patients' perspective

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Key result

Predictive genetic counseling and DNA testing were well accepted by HCM mutation carriers, with almost all satisfied and 76% receiving regular cardiac follow-up.

Population

143 predictively tested hypertrophic cardiomyopathy (HCM) mutation carriers

Design

Cross-sectional

Authors

ICImke ChristiaansGeneral Cardiology ILIrene M. van LangenMACOM (United States)EBErwin BirnieUniversity Medical Center Groningen

Discussion

Member takes

Implication

Stakeholder views on adapted HCM testing protocols vary widely; leaves open optimal counseling standards for mutation carriers.

Key Points

The aim is to evaluate the perspectives of hypertrophic cardiomyopathy mutation carriers on genetic counseling and cardiac care they received.
143 mutation carriers were surveyed via questionnaires with an 86% response rate.
Evaluation covered information provision, satisfaction, social pressure, and regret regarding DNA testing.
Opinions on cardiac follow-up were assessed, focusing on communication and emotional responses.
78% of mutation carriers were satisfied with the genetic counseling process.
Only 76% received regular cardiac follow-up despite international recommendations.
Older carriers, men, and those with manifest HCM reported fewer disadvantages regarding cardiac visits.

Study Design

Type

Cross-Sectional (n=143)

Structured PICO

Population

143 predictively tested hypertrophic cardiomyopathy mutation carriers who completed questionnaires regarding their cardiogenetic care.

Exposure

Predictive genetic counseling and DNA testing using adapted Huntington guidelines

Outcome

Patient opinions on cardiogenetic care evaluated on four domains: information provision, satisfaction with counseling, social pressure in DNA testing, and regret of DNA testing, as well as opinions on cardiac follow-uppatient reported

Adapted Huntington guidelines for predictive genetic counseling are well accepted by HCM mutation carriers, but adherence to recommended regular cardiac follow-up remains suboptimal at 76%.

Cite This Study

Christiaans et al. (2009) conducted a cross-sectional in Hypertrophic cardiomyopathy mutation carriers (n=143). Predictive genetic counseling and DNA testing was evaluated on Opinion on received cardiogenetic care. Predictive genetic counseling and DNA testing were well accepted by HCM mutation carriers, with almost all satisfied and 76% receiving regular cardiac follow-up.

synapsesocial.com/papers/6a6ef35fe5469ee92be01e7b https://doi.org/10.1002/ajmg.a.32915

Topics

Hypertrophic cardiomyopathy

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Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: The patients' perspective

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

Topics

Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: The patients' perspective

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider