Khouzam Amirah, Kwan Andrea, Baxter Samantha, Bernstein Jonathan A
Department of Genetics, Stanford University, Stanford, CA, USA.
Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Dr. H-315, Stanford, CA, 94305, USA.
J Genet Couns. 2015 Oct;24(5):797-809. doi: 10.1007/s10897-014-9810-8. Epub 2015 Jan 8.
Hypertrophic cardiomyopathy (HCM) is a common cardiovascular disorder with variable expressivity and incomplete penetrance. Clinical guidelines recommend consultation with a genetics professional as part of an initial assessment for HCM, yet there remains an underutilization of genetics services. We conducted a study to assess factors associated with this underutilization within the framework of the Health Belief Model (HBM). An online survey was completed by 306 affected individuals and at risk family members. Thirty-seven percent of individuals (113/306) had visited a genetics professional for reasons related to HCM. Genetic testing was performed on 53 % (162/306). Individuals who had undergone testing were more likely to have seen a genetics professional (p < 0.001), had relatives with an HCM diagnosis (p = 0.002), and have a known familial mutation (p < 0.001). They were also more likely to agree that genetic testing would satisfy their curiosity (p < 0.001), provide reassurance (p < 0.001), aid family members in making healthcare decisions (p < 0.001), and encourage them to engage in a healthier lifestyle (p = 0.002). The HBM components of cues to action and perceived benefits and barriers had the greatest impact on uptake of genetic testing. In order to ensure optimal counseling and care for individuals and families with HCM, awareness and education around HCM and genetic services should be promoted in both physicians and patients alike.
肥厚型心肌病（HCM）是一种常见的心血管疾病，具有可变的表达性和不完全的外显率。临床指南建议在对HCM进行初步评估时咨询遗传学专业人员，但遗传学服务的利用仍然不足。我们进行了一项研究，以评估在健康信念模型（HBM）框架内与这种利用不足相关的因素。306名受影响个体和有风险的家庭成员完成了一项在线调查。37%的个体（113/306）因与HCM相关的原因拜访过遗传学专业人员。53%（162/306）的个体进行了基因检测。接受检测的个体更有可能见过遗传学专业人员（p<0.001），有被诊断为HCM的亲属（p=0.002）以及已知的家族突变（p<0.001）。他们也更有可能同意基因检测会满足他们的好奇心（p<
0.001），提供安心感（p<0.001），帮助家庭成员做出医疗保健决策（p<0.001），并鼓励他们采取更健康的生活方式（p=0.002）。行动线索、感知利益和障碍这些HBM组成部分对基因检测的接受度影响最大。为了确保为患有HCM的个体和家庭提供最佳的咨询和护理，应在医生和患者中提高对HCM和遗传服务的认识并开展教育。
