Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias

An Obligation or a Choice?

Rick D. Vavolizza, Isha Kalia, Kathleen Erskine Aaron, Louise B. Silverstein, Dorit Barlevy, David Wasserman, Christine Walsh, Robert W. Marion, Siobhan M. Dolan

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

Inherited cardiac arrhythmias such as long QT syndrome and Brugada syndrome, present clinical as well as ethical, legal, and social challenges. Many individuals who carry a deleterious mutation are largely asymptomatic and therefore may not be diagnosed until after the occurrence of a personal or family member’s cardiac event. The familial nature of inherited genetic information raises numerous ethical, legal, and social issues regarding the sharing of genetic information, particularly when an individual found to carry a deleterious mutation refuses to disclose his or her results to at-risk family members who could benefit from life-saving treatments. This qualitative study sought to understand the experiences with genetic testing for individuals (n = 50) with a personal or family history of cardiac events or sudden death. Unstructured in-person focus groups or interviews were conducted for each participant in the study. The recordings of these interviews were transcribed verbatim and subsequently analyzed and coded. Participants’ comments regarding sharing of genetic information centered around four main themes: (1) motivation to disclose; (2) extent of disclosure; (3) effect of disclosure on family dynamics; and (4) reasons for not sharing genetic information. The majority of individuals believed that affected individuals are obligated to disclose genetic information to family members. In the era of personalized medicine, the disclosure of genetic information provides individuals the opportunities to learn about the genetics, disease characteristics, and treatment options in order to reduce morbidity and mortality in themselves and their family members. Further research is necessary to identify and explore the barriers to sharing genetic information with at-risk family members.

Original languageEnglish (US)
Pages (from-to)608-615
Number of pages8
JournalJournal of Genetic Counseling
Volume24
Issue number4
DOIs
StatePublished - Nov 18 2014

Fingerprint

Cardiac Arrhythmias
Information Dissemination
Disclosure
Interviews
Brugada Syndrome
Long QT Syndrome
Precision Medicine
Mutation
Inborn Genetic Diseases
Family Relations
Genetic Testing
Sudden Death
Focus Groups
Motivation
Morbidity
Mortality
Therapeutics
Research

Keywords

  • Cardiac arrhythmia
  • Disclosing genetic information
  • Ethical, Legal, and social issues
  • Family communication
  • Genetic counseling
  • Long QT syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias : An Obligation or a Choice? / Vavolizza, Rick D.; Kalia, Isha; Aaron, Kathleen Erskine; Silverstein, Louise B.; Barlevy, Dorit; Wasserman, David; Walsh, Christine; Marion, Robert W.; Dolan, Siobhan M.

In: Journal of Genetic Counseling, Vol. 24, No. 4, 18.11.2014, p. 608-615.

Research output: Contribution to journalArticle

Vavolizza, Rick D. ; Kalia, Isha ; Aaron, Kathleen Erskine ; Silverstein, Louise B. ; Barlevy, Dorit ; Wasserman, David ; Walsh, Christine ; Marion, Robert W. ; Dolan, Siobhan M. / Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias : An Obligation or a Choice?. In: Journal of Genetic Counseling. 2014 ; Vol. 24, No. 4. pp. 608-615.
@article{6bf8a1df65e244999bd652b569af2986,
title = "Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias: An Obligation or a Choice?",
abstract = "Inherited cardiac arrhythmias such as long QT syndrome and Brugada syndrome, present clinical as well as ethical, legal, and social challenges. Many individuals who carry a deleterious mutation are largely asymptomatic and therefore may not be diagnosed until after the occurrence of a personal or family member’s cardiac event. The familial nature of inherited genetic information raises numerous ethical, legal, and social issues regarding the sharing of genetic information, particularly when an individual found to carry a deleterious mutation refuses to disclose his or her results to at-risk family members who could benefit from life-saving treatments. This qualitative study sought to understand the experiences with genetic testing for individuals (n = 50) with a personal or family history of cardiac events or sudden death. Unstructured in-person focus groups or interviews were conducted for each participant in the study. The recordings of these interviews were transcribed verbatim and subsequently analyzed and coded. Participants’ comments regarding sharing of genetic information centered around four main themes: (1) motivation to disclose; (2) extent of disclosure; (3) effect of disclosure on family dynamics; and (4) reasons for not sharing genetic information. The majority of individuals believed that affected individuals are obligated to disclose genetic information to family members. In the era of personalized medicine, the disclosure of genetic information provides individuals the opportunities to learn about the genetics, disease characteristics, and treatment options in order to reduce morbidity and mortality in themselves and their family members. Further research is necessary to identify and explore the barriers to sharing genetic information with at-risk family members.",
keywords = "Cardiac arrhythmia, Disclosing genetic information, Ethical, Legal, and social issues, Family communication, Genetic counseling, Long QT syndrome",
author = "Vavolizza, {Rick D.} and Isha Kalia and Aaron, {Kathleen Erskine} and Silverstein, {Louise B.} and Dorit Barlevy and David Wasserman and Christine Walsh and Marion, {Robert W.} and Dolan, {Siobhan M.}",
year = "2014",
month = "11",
day = "18",
doi = "10.1007/s10897-014-9783-7",
language = "English (US)",
volume = "24",
pages = "608--615",
journal = "Journal of Genetic Counseling",
issn = "1059-7700",
publisher = "Kluwer Academic/Human Sciences Press Inc.",
number = "4",

}

TY - JOUR

T1 - Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias

T2 - An Obligation or a Choice?

AU - Vavolizza, Rick D.

AU - Kalia, Isha

AU - Aaron, Kathleen Erskine

AU - Silverstein, Louise B.

AU - Barlevy, Dorit

AU - Wasserman, David

AU - Walsh, Christine

AU - Marion, Robert W.

AU - Dolan, Siobhan M.

PY - 2014/11/18

Y1 - 2014/11/18

N2 - Inherited cardiac arrhythmias such as long QT syndrome and Brugada syndrome, present clinical as well as ethical, legal, and social challenges. Many individuals who carry a deleterious mutation are largely asymptomatic and therefore may not be diagnosed until after the occurrence of a personal or family member’s cardiac event. The familial nature of inherited genetic information raises numerous ethical, legal, and social issues regarding the sharing of genetic information, particularly when an individual found to carry a deleterious mutation refuses to disclose his or her results to at-risk family members who could benefit from life-saving treatments. This qualitative study sought to understand the experiences with genetic testing for individuals (n = 50) with a personal or family history of cardiac events or sudden death. Unstructured in-person focus groups or interviews were conducted for each participant in the study. The recordings of these interviews were transcribed verbatim and subsequently analyzed and coded. Participants’ comments regarding sharing of genetic information centered around four main themes: (1) motivation to disclose; (2) extent of disclosure; (3) effect of disclosure on family dynamics; and (4) reasons for not sharing genetic information. The majority of individuals believed that affected individuals are obligated to disclose genetic information to family members. In the era of personalized medicine, the disclosure of genetic information provides individuals the opportunities to learn about the genetics, disease characteristics, and treatment options in order to reduce morbidity and mortality in themselves and their family members. Further research is necessary to identify and explore the barriers to sharing genetic information with at-risk family members.

AB - Inherited cardiac arrhythmias such as long QT syndrome and Brugada syndrome, present clinical as well as ethical, legal, and social challenges. Many individuals who carry a deleterious mutation are largely asymptomatic and therefore may not be diagnosed until after the occurrence of a personal or family member’s cardiac event. The familial nature of inherited genetic information raises numerous ethical, legal, and social issues regarding the sharing of genetic information, particularly when an individual found to carry a deleterious mutation refuses to disclose his or her results to at-risk family members who could benefit from life-saving treatments. This qualitative study sought to understand the experiences with genetic testing for individuals (n = 50) with a personal or family history of cardiac events or sudden death. Unstructured in-person focus groups or interviews were conducted for each participant in the study. The recordings of these interviews were transcribed verbatim and subsequently analyzed and coded. Participants’ comments regarding sharing of genetic information centered around four main themes: (1) motivation to disclose; (2) extent of disclosure; (3) effect of disclosure on family dynamics; and (4) reasons for not sharing genetic information. The majority of individuals believed that affected individuals are obligated to disclose genetic information to family members. In the era of personalized medicine, the disclosure of genetic information provides individuals the opportunities to learn about the genetics, disease characteristics, and treatment options in order to reduce morbidity and mortality in themselves and their family members. Further research is necessary to identify and explore the barriers to sharing genetic information with at-risk family members.

KW - Cardiac arrhythmia

KW - Disclosing genetic information

KW - Ethical, Legal, and social issues

KW - Family communication

KW - Genetic counseling

KW - Long QT syndrome

UR - http://www.scopus.com/inward/record.url?scp=84938208693&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84938208693&partnerID=8YFLogxK

U2 - 10.1007/s10897-014-9783-7

DO - 10.1007/s10897-014-9783-7

M3 - Article

VL - 24

SP - 608

EP - 615

JO - Journal of Genetic Counseling

JF - Journal of Genetic Counseling

SN - 1059-7700

IS - 4

ER -