Communication of Genetic Risk for Sudden Cardiac Death from Probands to Relatives

Shah, Lisa

Abstract

Hypertrophic Cardiomyopathy (HCM) and Long QT Syndrome (LQTS) are genetic cardiovascular diseases that cause sudden cardiac death. When a person is diagnosed with HCM or LQTS, their entire genetic family is at high risk for the same disease and should be notified of their risk and screened for disease through a process called cascade screening. The responsibility for notifying family members of this risk falls to the first person in the family diagnosed (proband). However, nearly half of relatives are not screened in accordance with cascade screening recommendations because they are not aware of their risk. This study will investigate the relationship between family network factors (geographical distance, frequency of visual and non-visual contact, emotional closeness, relationship affect, and age) and non-network factors (disease factors including severity, certainty of testing, and treatments; individual factors including risk perception, feelings of responsibility, anxiety, and gender; and sociocultural influences) and communication of genetic risk between probands and their relatives in families at risk for HCM/LQTS. Objectives: The purpose of this social network study is to improve our understanding of the relationship between network and non-network factors and communication of genetic risk between probands and their relatives in families at risk for HCM/LQTS.
Two specific aims are proposed:
Aim 1) Describe family social network structures and communication paths about risk for HCM/LQTS from probands to their relatives;
Aim 2) Identify which network and non-network factors predict who is told about risk for HCM/LQTS. Methods: An egocentric social network study will be used to investigate two specific aims. The sample will be comprised of probands with HCM or LQTS and recruited through the University of Iowa Cardiology Clinics. Data will be collected using a family pedigree and a structured interview. Egocentric social network analysis, including descriptive and multilevel logit modeling will be used. Relevance:
This research aims to improve our understanding of the relationship between network and non-network factors and communication of genetic risk between probands and their relatives in families at risk for HCM/LQTS. This research will support my long-term goal build a program of behavioral research that will focus on clinical use of genomic information to prevent death and complications of cardiovascular disease through development of interventions and policy aimed at improved improving cascade screening among individuals and families at risk for inherited cardiovascular disease. This research is particularly applicable for genetic conditions where population based screening methods are not effective and rely on families to communicate risk and need for screening.

Public Health Relevance

This research aims to improve our understanding of the relationship between network and non- network factors and communication of genetic risk between probands and their relatives in families at risk for HCM/LQTS. This research will support my long-term goal build a program of behavioral research that will focus on clinical use of genomic information to prevent death and complications of cardiovascular disease through development of interventions and policy aimed at improved improving cascade screening among individuals and families at risk for inherited cardiovascular disease. This research is particularly applicable for genetic conditions where population based screening methods are not effective and rely on families to communicate risk and need for screening.