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

先证者向亲属传达心脏性猝死的遗传风险

• 批准号: 8833538
• 负责人: Lisa L Shah
• 金额: $ 3.32万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-01-01 至 2016-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8833538
• 关键词: Adherence; Affect; Age; Anxiety; Behavioral Research; Cardiology; Cardiovascular Diseases; Cessation of life; Characteristics; Clinic; Clinical; Communication; Data; Development; Diagnosis; Disease; Emotional; Event; Family; Family Relationship; Family member; Feeling; Frequencies; Future; Gender; Genetic; Genetic Risk; Genomics; Glass; Goals; Health; Health Professional; Healthcare Systems; Heart Diseases; Hereditary Disease; Hypertrophic Cardiomyopathy; Individual; Inherited; Institutes; Intervention; Interview; Iowa; Left; Life; Logit Models; Long QT Syndrome; Malignant Neoplasms; Methods; Modeling; Parents; Pathway Analysis; Persons; Policies; Prevention; Process; Proxy; Recommendation; Recruitment Activity; Relative (related person); Research; Risk; Sampling; Severities; Social Network; Structure; Symptoms; Testing; United States; Universities; Visual; cost; disorder risk; effective therapy; fall risk; family genetics; family influence; genetic pedigree; genetic risk factor; high risk; improved; innovation; population based; premature; prevent; proband; programs; public health relevance; risk perception; screening; sudden cardiac death; therapy development

DESCRIPTION (provided by applicant): 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.

描述（由申请方提供）：肥厚性心肌病（HCM）和长QT综合征（LQTS）是导致心源性猝死的遗传性心血管疾病。当一个人被诊断患有HCM或LQTS时，他们的整个遗传家族都处于同一疾病的高风险中，应该被告知他们的风险，并通过称为级联筛查的过程进行疾病筛查。将这种风险通知家庭成员的责任福尔斯在家庭中第一个被诊断的人（先证者）身上。然而，近一半的亲属没有按照级联筛查建议进行筛查，因为他们不知道自己的风险。本研究将探讨家庭网络因素与（地理距离、视觉和非视觉接触频率、情感亲密度、关系影响和年龄）和非网络因素（疾病因素，包括严重程度、检测的确定性和治疗;个体因素，包括风险认知、责任感、焦虑和性别;和社会文化的影响）和遗传风险之间的先证者和他们的亲属在HCM/LQTS的风险家庭的沟通。 目的：这项社会网络研究的目的是提高我们对网络和非网络因素之间的关系以及先证者及其亲属在HCM/LQTS风险家庭中遗传风险的沟通的理解。提出了两个具体目标：目标1）描述家庭社会网络结构和沟通路径的风险HCM/LQTS从先证者到他们的亲属;目标2）确定哪些网络和非网络因素预测谁被告知的风险HCM/LQTS。 方法：自我中心的社会网络研究将被用来调查两个具体的目标。样本将由患有HCM或LQTS的先证者组成，并通过爱荷华州大学心脏病学诊所招募。将使用家庭系谱和结构化访谈收集数据。自我中心的社会网络分析，包括描述性和多层次的logit建模将被使用。 相关性：本研究旨在提高我们对网络和非网络因素之间的关系以及HCM/LQTS风险家族中先证者及其亲属之间遗传风险的沟通的理解。这项研究将支持我的长期目标，建立一个行为研究计划，该计划将侧重于基因组信息的临床应用，通过制定干预措施和政策，旨在改善遗传性心血管疾病风险个人和家庭的级联筛查，以预防心血管疾病的死亡和并发症。这项研究特别适用于遗传条件下，基于人口的筛查方法是无效的，并依赖于家庭沟通的风险和筛查的需要。