October 1, 2002Journal of Medical GeneticsOpen Access

Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience

Q: What is the clinical evidence from this study?

Study design: Observational. Population: Hypertrophic cardiomyopathy (n=70). Intervention: Multidisciplinary genetic testing and counselling procedure. Primary outcome: Uptake and outcomes of genetic testing and counselling.

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Key result

A multidisciplinary genetic testing procedure for hypertrophic cardiomyopathy evaluated 70 subjects, with 19 of 29 adults continuing presymptomatic diagnosis and 6 found to have a mutation.

Population

70 subjects seeking genetic testing or counselling for hypertrophic cardiomyopathy, including 29 adults for…

Design

Cohort

Authors

PCPhilippe CharronUniversité Claude Bernard Lyon 1

Discussion

Member takes

Implication

May support structured counseling in HCM genetic testing; leaves open optimal implementation in larger cohorts.

Study Design

Type

Observational (n=70)

Structured PICO

Population

70 subjects, including adults, parents, and couples, undergoing a multidisciplinary genetic testing and counselling procedure for hypertrophic cardiomyopathy.

Exposure

Specific, multidisciplinary, and multiple step procedure for genetic testing and counselling, including a cardiologist, a geneticist, and a psychologist.

Outcome

Patient decisions to continue the procedure, mutation detection rates, and psychological impact.

A multidisciplinary approach to genetic testing in hypertrophic cardiomyopathy highlights the complexity of patient decisions and the need for structured counselling procedures.

Cite This Study

Philippe Charron (2002) conducted an observational in Hypertrophic cardiomyopathy (n=70). Multidisciplinary genetic testing and counselling procedure was evaluated on Uptake and outcomes of genetic testing and counselling. A multidisciplinary genetic testing procedure for hypertrophic cardiomyopathy evaluated 70 subjects, with 19 of 29 adults continuing presymptomatic diagnosis and 6 found to have a mutation.

synapsesocial.com/papers/6a984e403de45e4adad7e91d https://doi.org/10.1136/jmg.39.10.741

Topics

Hypertrophic cardiomyopathy

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October 1, 2002Journal of Medical GeneticsOpen Access

Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience

View Full Paper

Ask AI

Bookmark

Key result

A multidisciplinary genetic testing procedure for hypertrophic cardiomyopathy evaluated 70 subjects, with 19 of 29 adults continuing presymptomatic diagnosis and 6 found to have a mutation.

Population

70 subjects seeking genetic testing or counselling for hypertrophic cardiomyopathy, including 29 adults for…

Design

Cohort

Authors

PCPhilippe CharronUniversité Claude Bernard Lyon 1

Discussion

Member takes

Implication

May support structured counseling in HCM genetic testing; leaves open optimal implementation in larger cohorts.

Study Design

Type

Observational (n=70)

Structured PICO

Population

70 subjects, including adults, parents, and couples, undergoing a multidisciplinary genetic testing and counselling procedure for hypertrophic cardiomyopathy.

Exposure

Specific, multidisciplinary, and multiple step procedure for genetic testing and counselling, including a cardiologist, a geneticist, and a psychologist.

Outcome

Patient decisions to continue the procedure, mutation detection rates, and psychological impact.

A multidisciplinary approach to genetic testing in hypertrophic cardiomyopathy highlights the complexity of patient decisions and the need for structured counselling procedures.

Cite This Study

synapsesocial.com/papers/6a984e403de45e4adad7e91d https://doi.org/10.1136/jmg.39.10.741

Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

Topics

Hypertrophic cardiomyopathy

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