Krakow Melinda, Ratcliff Chelsea L, Hesse Bradford W, Greenberg-Worisek Alexandra J
Health Communication and Informatics Research Branch, National Cancer Institute, Bethesda, Maryland, USA.
Department of Communication, University of Utah, Salt Lake City, Utah, USA.
Public Health Genomics. 2017;20(6):343-348. doi: 10.1159/000489117. Epub 2018 May 31.
BACKGROUND/AIMS: Public understanding of the role of genetics in disease risk is key to appropriate disease prevention and detection. This study assessed the current extent of awareness and use of genetic testing in the US population. Additionally, the study identified characteristics of subgroups more likely to be at risk for low genetic literacy.
The study used data from the National Cancer Institute's 2017 Health Information National Trends Survey, including measures of genetic testing awareness, genetic testing applications and genetic testing usage. Multivariable logistic regression models estimated associations between sociodemographics, genetic testing awareness, and genetic testing use.
Fifty-seven percent of respondents were aware of genetic tests. Testing awareness differed by age, household income, and race/ethnicity. Most participants had heard of using tests to determine personal disease risk (82.58%) or inherited disease risk in children (81.41%), but less were familiar with determining treatment (38.29%) or drug efficacy (40.76%). Among those with genetic testing awareness, actual testing uptake was low.
A large portion of the general public lacks genetic testing awareness and may benefit from educational campaigns. As precision medicine expands, increasing public awareness about genetic testing applications for disease prevention and treatment will be important to support population health.
背景/目的：公众对遗传学在疾病风险中的作用的理解是适当的疾病预防和检测的关键。本研究评估了美国人群中目前对基因检测的知晓程度和使用情况。此外，该研究还确定了更有可能存在低基因素养风险的亚组特征。
该研究使用了美国国立癌症研究所2017年健康信息全国趋势调查的数据，包括基因检测知晓度、基因检测应用和基因检测使用情况的测量指标。多变量逻辑回归模型估计了社会人口统计学、基因检测知晓度和基因检测使用之间的关联。
57%的受访者知晓基因检测。检测知晓度因年龄、家庭收入和种族/民族而异。大多数参与者听说过使用检测来确定个人疾病风险（82.58%）或儿童遗传性疾病风险（81.41%），但对确定治疗方法（38.29%）或药物疗效（40.76%）了解较少。在知晓基因检测的人群中，实际进行检测的比例较低。
很大一部分公众缺乏基因检测意识，可能会从教育活动中受益。随着精准医学的发展，提高公众对基因检测在疾病预防和治疗中的应用的认识对于促进人群健康至关重要。
