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Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy
Carissa Bonner1, Catherine Spinks2,3,4, Christopher Semsarian2,3,4
1Sydney School of Public Health, University of Sydney, Rm 126A, Edward Ford Building A27, Sydney, NSW, 2006, Australia. carissa.bonner@sydney.edu.au.
Insights
Genetic testing for hypertrophic cardiomyopathy (HCM) offers benefits for future generations but can cause psychological distress and behavioral changes in gene-positive individuals. Clear communication and informed decision-making are crucial for managing these impacts.
Area of Science:
- Cardiovascular Genetics
- Genetic Counseling
- Psychological Impact of Genetic Testing
Background:
- Families with a history of hypertrophic cardiomyopathy (HCM) often undergo genetic testing and clinical surveillance.
- Asymptomatic gene-positive family members (silent carriers) present unique management challenges due to limited evidence.
- Understanding the experiences of individuals undergoing HCM genetic testing is essential for identifying benefits and harms.
Purpose of the Study:
- To explore the experiences of individuals offered genetic testing for hypertrophic cardiomyopathy.
- To identify the potential psychological and behavioral benefits and harms associated with HCM genetic testing.
- To inform clinical management and genetic counseling strategies for silent gene carriers.
Main Methods:
- Recruitment of 32 individuals previously offered genetic testing for HCM.
- Conducting semi-structured interviews (face-to-face or phone).
- Utilizing framework analysis for coding transcribed audio-recordings.
Main Results:
- Key themes included benefits for future generations, misunderstanding of risk, and discrepancies between actual and perceived impacts.
- Participants reported psychological consequences (shock, worry, uncertainty) and behavioral changes (career, sport, insurance, family planning) based on perceived risk.
- While most focused on benefits for offspring, some experienced significant adverse impacts from positive genetic results.
Conclusions:
- HCM genetic test results have variable interpretations for silent carriers, potentially causing psychological and behavioral changes.
- Improved clarity on clinical consequences and enhanced informed decision-making can mitigate the adverse impact of positive genetic results.
- Cardiac genetic counseling plays a vital role in supporting individuals through the complexities of HCM genetic testing.
Abstract:
Families with a history of hypertrophic cardiomyopathy (HCM) may be offered genetic testing in addition to clinical surveillance. Asymptomatic family members who are gene positive (silent gene carriers) represent a new group of "patients" who may not develop HCM, with little evidence available to assist clinical management. This study explored experiences of HCM genetic testing to identify potential benefits and harms. Thirty-two individuals previously offered genetic testing for HCM were recruited. Semi-structured interviews were conducted face-to-face or by phone, and transcribed audio-recordings were coded using framework analysis. Key themes were as follows: (1) helping the next generation, (2) misunderstanding risk, (3) discrepancy between actual/perceived impact. Participants described multiple psychological (shock, worry, uncertainty) and behavioural (career, sport, insurance, family planning) consequences, depending on perceived risk. Most considered only the benefits of genetic testing for children or grandchildren, but there were some cases of significant adverse impact. The interpretation of the HCM genetic test result is variable for silent gene carriers and can lead to psychological and behavioural changes. The impact of a positive gene result may be mitigated by increased clarity of the clinical consequences and efforts to ensure informed decision-making, highlighting even further the important role of cardiac genetic counselling.
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