Psychological Stress Associated With Cardiogenetic Conditions

Nadia Hidayatallah; Louise B Silverstein; Marina Stolerman; Thomas McDonald; Christine A Walsh; Esma Paljevic; Lilian L Cohen; Robert W Marion; David Wasserman; Sarah Hreyo; Siobhan M Dolan

Disclosures

Personalized Medicine. 2014;11(7):631-640.

Abstract and Introduction

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.

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Abstract and Introduction
Psychological Stress Associated With Cardiogenetics
Methods
Results
Discussion
Conclusion
Limitations & Recommendations for Future Research
References
Sidebar

Table 1. Individual and family characteristics of the sample.
Characteristic	Sample 1 (n = 27^†)	Sample 2 (n = 14)	Sample 3 (n = 9)	Total (n = 50)
Sex:
Male	8	1	2	11
Female	19	13	7	39
Race/ethnicity:
White	12	12	8	32
African–American	4	1	1	6
African–Caribbean	1	0	0	1
Latino/Hispanic	10	0	0	10
Biracial (white Asian)	0	1	0	1
Education:
Less than ninth grade	1	0	0	1
Currently in high school	2	0	0	2
GED	1	1	0	2
High school	4	1	0	5
Some college	5	5	1	11
College degree	3	5	4	12
Graduate degree	9	3	3	15
Unknown	2	0	0	2
Annual household income:
<US$25,000	3	2	1	6
US$26,000–50,000	4	2	0	6
US$51,000–80,000	7	3	0	10
>US$80,000	7	7	8	22
Refused	2	0	0	2
Unknown	4	0	0	4
Age:
<20 years old	3	0	0	3
20–30 years old	8	2	0	10
31–50 years old	4	7	8	19
51–60 years old	8	3	0	11
>60 years old	2	2	1	5
Unknown	2	0	0	2
Marital status:
Married	10	11	7	28
Cohabiting	2	0	0	2
Separated	1	1	0	2
Divorced	0	0	1	1
Single	13	2	1	16
Widow	1	0	0	1
Participants with sudden death in immediate family	13	9	9	31
Families with adolescent or child as patient^‡	6/14	9/11	7/7	22/32
Families in which at least one immediate family member had genetic testing	14/14	11/11	2/7	27/32

^†The graduate student who volunteered to participate in the study is included in the table under the sample 1 frequencies.
^‡Data referring to families with children as patients or families who had undergone genetic testing are reported in terms of n = 32.
GED: General Educational Development Test, designed to measure the skills and knowledge equivalent to a high school course of study.

Table 2. Number of participants expressing themes and repeating ideas.
Themes and repeating ideas	Sample 1 (n = 27^†)	Sample 2 (n = 14)	Sample 3 (n = 9)	Total (n = 50)
Bereavement:
"I was absolutely numb"	8	7	8	23
"I need to know what happened"	7	5	9	21
"It haunts you forever"	6	1	4	11
Reactive anxiety:
"I have a lot of guilt"	14	12	7	33
"I was the only one"	4	0	3	7
"It'll always be in the back of my mind"	9	5	9	7
"How do I say, 'I'm afraid you might die'?"	6	1	1	8
Positive outcomes:
"It gives me closure"	7	7	0	14
"Every day is a gift"	4	3	0	7
"I wanted to create awareness"	7	14	9	30

^†The graduate student who volunteered to participate in the study is included in the table under sample 1 frequencies.

Sidebar

Executive Summary

Background

Advances in genetic testing have made it possible to identify individuals with cardiogenetic conditions, including long QT syndrome, which can result in sudden death.
Cardiogenetic conditions are often not detected prior to an acute cardiac event.
When death occurs due to cardiogenetic conditions, families often experience stress due to the sudden nature of the death, particularly if the individual was asymptomatic prior to the lethal arrhythmia.
Genetic testing can result in psychological stress for patients and family members who may be mourning the loss of a family member or who have just experienced their own near-death event.
Several organizations have recommended that clinical psychologists should be included in medical treatment teams for heart disease, but these guidelines have not been widely heeded.

Methods

This study used a qualitative research design.
Researchers interviewed 50 individuals from 32 families, all of whom had experienced their own cardiac event or had a family member who had experienced a cardiac event or had died suddenly.
Participants were recruited from a cardiogenetics clinic, where patients were treated by an interdisciplinary team, and two advocacy organizations.
Interview transcripts were coded and analyzed using a grounded theory approach, yielding relevant text, repeating ideas expressed by multiple participants and themes.

Results

Participants reported a unique bereavement trajectory after the sudden death of a family member, including initial disbelief, confusion in the absence of prior symptoms, a need for an explanation of the death and difficulty accepting the death.
Participants expressed anxiety related to the genetic transmission of cardiogenetic conditions, loneliness in their experience, inconclusive genetic testing results and decision-making regarding how to discuss cardiogenetic conditions with children and adolescents.
Positive outcomes included relief associated with clear genetic testing results, adoption of healthier lifestyles and obtaining social support via advocacy groups.

Discussion & conclusion

Psychological counseling is recommended in order to help individuals and families cope with bereavement and anxiety associated with cardiogenetic conditions and genetic testing.
Medical professionals can benefit from additional training in diagnosing cardiogenetic conditions.
Cardiogenetic treatment teams should routinely provide patients and family members with information regarding support and advocacy groups.
Psychologists should participate as members of cardiogenetic treatment teams in order to help integrate psychological and medical care for these conditions.
These recommendations may apply to the treatment of a wide range of genetic conditions.