Nadia Hidayatallah1, Louise B Silverstein2, Marina Stolerman2, Thomas McDonald3, Christine A Walsh4, Esma Paljevic5, Lilian L Cohen6, Robert W Marion7, David Wasserman8, Sarah Hreyo2, Siobhan M Dolan9. 1. Ferkauf Graduate School of Psychology, Yeshiva University, Bronx, New York, NY, USA ; Child & Family Institute, Department of Psychiatry, Mt. Sinai-St. Luke's, New York, NY, USA. 2. Ferkauf Graduate School of Psychology, Yeshiva University, Bronx, New York, NY, USA. 3. Department of Medicine (Cardiology), Albert Einstein College of Medicine/Montefiore Medical Center, 1300 Morris Park Avenue, Bronx, NY 10461, USA. 4. Department of Pediatrics (Cardiology), Children's Hospital at Montefiore/Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA. 5. Department of Pediatrics (Cardiology), Children's Hospital at Montefiore/Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA ; Lienhard School of Nursing, Pace University, New York, NY, USA. 6. Department of Pediatrics (Genetics), Children's Hospital at Montefiore/Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA ; Department of Pediatrics, Weill Cornell Medical College/New York Presbyterian Hospital, New York, NY, USA. 7. Department of Pediatrics (Genetics), Children's Hospital at Montefiore/Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA. 8. Center for Ethics, Yeshiva University, 500 West 185th Street, New York, NY 10033, USA. 9. Department of Obstetrics & Gynecology & Women's Health, Albert Einstein College of Medicine/Montefiore Medical Center, Block 634, 1300 Morris Park Avenue, Bronx, NY 10461, USA.
Abstract
AIM: Genetic testing now makes it possible to identify specific mutations that may lead to life-threatening cardiac arrhythmias. This article presents data from a qualitative research study that explored the subjective experiences of individuals and families with cardiogenetic conditions. We focus on describing patients' experiences of psychological stresses associated with having a cardiogenetic condition, illustrating the importance of integrating psychological and medical care. This integration of care is particularly important as personalized genomic medicine continues to evolve and the implications of genetic testing have a profound effect on individuals and families. METHODS: The researchers interviewed 50 participants from 32 families. The research team used a systematic, grounded theory procedure to code and analyze interview and focus group transcripts, incorporating multiple coders at several stages of the data analysis process. RESULTS: Three major themes emerged: a bereavement trajectory associated with sudden death in the absence of prior symptoms; high anxiety about transmitting a genetic mutation; and resilience reflected in positive lifestyle changes and participation in support groups. CONCLUSION: This article identifies patient perspectives on personalized genomic medicine in cardiogenetics that can improve clinical care, including: specialized bereavement counseling; improving education about cardiogenetic conditions for medical professionals; parent guidelines for discussing cardiogenetic conditions with their children; information about support groups; and the routine inclusion of clinical psychologists in interdisciplinary treatment teams. Given recent advances in technology and decreasing costs, whole-genome sequencing is likely to become common practice in the near future. Therefore, these recommendations are likely to be relevant for other genetic conditions, as well as the entire field of personalized genomic medicine.
AIM: Genetic testing now makes it possible to identify specific mutations that may lead to life-threatening cardiac arrhythmias. This article presents data from a qualitative research study that explored the subjective experiences of individuals and families with cardiogenetic conditions. We focus on describing patients' experiences of psychological stresses associated with having a cardiogenetic condition, illustrating the importance of integrating psychological and medical care. This integration of care is particularly important as personalized genomic medicine continues to evolve and the implications of genetic testing have a profound effect on individuals and families. METHODS: The researchers interviewed 50 participants from 32 families. The research team used a systematic, grounded theory procedure to code and analyze interview and focus group transcripts, incorporating multiple coders at several stages of the data analysis process. RESULTS: Three major themes emerged: a bereavement trajectory associated with sudden death in the absence of prior symptoms; high anxiety about transmitting a genetic mutation; and resilience reflected in positive lifestyle changes and participation in support groups. CONCLUSION: This article identifies patient perspectives on personalized genomic medicine in cardiogenetics that can improve clinical care, including: specialized bereavement counseling; improving education about cardiogenetic conditions for medical professionals; parent guidelines for discussing cardiogenetic conditions with their children; information about support groups; and the routine inclusion of clinical psychologists in interdisciplinary treatment teams. Given recent advances in technology and decreasing costs, whole-genome sequencing is likely to become common practice in the near future. Therefore, these recommendations are likely to be relevant for other genetic conditions, as well as the entire field of personalized genomic medicine.
Entities:
Keywords:
cardiogenetic conditions; genetic testing; interdisciplinary treatment; long QT syndrome; personalized genomic medicine; psychological stress and genetic testing; sudden death
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