Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy

Journal of Genetic Counseling
Carissa BonnerKirsten McCaffery

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 imp...Continue Reading

References

Jun 11, 2005·Mayo Clinic Proceedings·Sara L Van DriestMichael J Ackerman
Jun 18, 2009·American Journal of Medical Genetics. Part a·Imke ChristiaansEllen M A Smets
Dec 28, 2010·The American Journal of Cardiology·Barry J MaronChristopher Semsarian
Feb 18, 2011·Circulation. Cardiovascular Genetics·Rajani D Aatre, Sharlene M Day
Apr 29, 2011·The New England Journal of Medicine·Hugh WatkinsCharles Redwood
Aug 25, 2011·International Journal of Cardiology·Belinda GrayChristopher Semsarian
Sep 21, 2011·International Journal of Cardiology·Jodie InglesChristopher Semsarian
Oct 18, 2011·Heart, Lung & Circulation·Jodie InglesUNKNOWN CSANZ Cardiac Genetic Diseases Council Writing Group
May 5, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jodie InglesChristopher Semsarian
May 2, 2013·European Journal of Human Genetics : EJHG·Elizabeth OrmondroydHugh Watkins
Jan 23, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ahmed A AlfaresHeidi L Rehm
Feb 19, 2015·Circulation. Cardiovascular Genetics·Joanna SweetingChristopher Semsarian
Mar 31, 2015·Journal of the American College of Cardiology·Christopher SemsarianBarry J Maron
Jun 4, 2016·Trends in Cardiovascular Medicine·Colleen CaleshuJodie Ingles

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Citations

Apr 25, 2020·Journal of Genetic Counseling·Lee-Anna HuismanRod McCormick
Oct 2, 2019·Cold Spring Harbor Perspectives in Medicine·Julia Platt
Oct 26, 2018·Circulation. Genomic and Precision Medicine·Susan ChristianJoseph Atallah
May 18, 2021·Royal Society Open Science·Alexandra L J FreemanDavid Spiegelhalter

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