Fitzgerald-Butt Sara M, Klima Jennifer, Kelleher Kelly, Chisolm Deena, McBride Kim L
Center for Cardiovascular and Pulmonary Research, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, Ohio.
Am J Med Genet A. 2014 Dec;164A(12):3069-75. doi: 10.1002/ajmg.a.36763. Epub 2014 Sep 24.
Clinical genetic testing for specific isolated congenital heart defects (CHD) is becoming standard of care in pediatric cardiology practice. Both genetic knowledge and attitudes toward genetic testing are associated with an increased utilization of genetic testing, but these factors have not been evaluated in parents of children with CHD. We mailed a survey to measure the demographics, genetic knowledge, and attitudes towards genetic testing of parents of children with CHD who previously consented to participate in a separate research study of the genetic etiology of left ventricular outflow tract malformations (LVOT). Of the 378 eligible families, 190 (50%) returned surveys with both parents completing surveys in 97 (51%) families, resulting in 287 participants. Genetic knowledge was assessed on an adapted measure on which the mean percent correct was 73.8%. Educational attainment and household income were directly and significantly associated with genetic knowledge (P < 0.001). Attitudes about the health effects of genetic testing were favorable with at least 57% agreeing that genetic testing would be used for managing health care and finding cures for disease. Conversely, a minority of participants found it likely that genetic testing would be used for insurance (up to 39.9%), employment (15.8%), or racial/social discrimination (up to 11.2%). Parents of younger children were less likely to endorse employment or racial/social discrimination. Genetic knowledge was not correlated with specific attitudes. Among parents of children with CHD, genetic knowledge was directly associated with household income and education, but additional research is necessary to determine what factors influence attitudes towards genetic testing.
针对特定孤立性先天性心脏病（CHD）的临床基因检测正成为儿科心脏病学实践中的标准治疗手段。基因知识以及对基因检测的态度都与基因检测利用率的提高相关，但这些因素尚未在患有CHD儿童的父母中得到评估。我们邮寄了一份调查问卷，以了解患有CHD儿童的父母的人口统计学特征、基因知识以及对基因检测的态度，这些父母此前已同意参与一项关于左心室流出道畸形（LVOT）遗传病因的单独研究。在378个符合条件的家庭中，190个（50%）回复了调查问卷，其中97个（51%）家庭的父母双方都完成了调查，共有287名参与者。基因知识通过一项改编后的测量方法进行评估，平均正确百分比为73.8%。教育程度和家庭收入与基因知识直接且显著相关（P < 0.001）。对基因检测健康影响的态度较为积极，至少57%的人认为基因检测将用于医疗保健管理和疾病治疗。相反，少数参与者认为基因检测可能会被用于保险（高达39.9%）、就业（15.8%）或种族/社会歧视（高达11.2%）。年龄较小儿童的父母不太可能认可就业或种族/社会歧视。基因知识与特定态度无关。在患有CHD儿童的父母中，基因知识与家庭收入和教育直接相关，但需要进一步研究以确定哪些因素会影响对基因检测的态度。
