Genetics and Autism Literacy Survey (GALS)

遗传学和自闭症素养调查 (GALS)

• 批准号: 10691113
• 负责人: Christie Gunter
• 金额: $ 9.47万
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10691113
• 关键词: Affect; Attitude; Award; Awareness; Behavioral Research; Belief; Clinical; Decision Making; Diagnosis; Ensure; Ethnic group; Exposure to; Family; Foundations; General Population; Genetic; Genetic Determinism; Genetic study; Genomics; Happiness; Health; Healthcare; Individual; Knowledge; Measures; Medical Genetics; National Human Genome Research Institute; Pain; Participant; Patients; Perception; Persons; Population; Procedures; Race; Religious Belief; Research; Role; Sampling; Secondary Schools; Social Impacts; Surveys; Testing; Update; Work; autism spectrum disorder; cultural values; genetic information; genetic testing; improved; instrument; literacy; member; prevent; racial and ethnic; social; uptake; willingness

Genomic research advancements in the last decade have significantly increased the ability to apply genomic information to many facets of health. As clinical and direct-to-consumer genetic testing is integrated into healthcare, the need for patients to make decisions about their own genetic information increases. Genetic literacy, or ones knowledge of genetic principles and their applications, is one measure that assesses a persons ability to apply genetics to their own health. However, genetic literacy is generally low, even among those who have completed secondary education (Chapman et al., 2019). Beyond genetic knowledge is the ability to make decisions about your health using increasingly available genetic information. A survey implemented in 2016 by members of the SBRB at NHGRI found moderate genetic literacy results with 50% of the sample answering all questions correctly. While this higher genetic literacy rate increased participants confidence in their decision-making ability, so did exposure to genetic testing in the media (Abrams et al., 2016). As discussion and availability of direct-to-consumer genetic testing increases, it is imperative to disseminate accurate genetic information to ensure that the public is equipped to make personal health decisions. While previous research has explored genetic literacy rates in the US (Kampourakis, 2016; Krakow et al., 2018), there is a need to update the rates and apply them to a currently unexplained gap in genetic testing for autism spectrum disorder (ASD). Though genetic testing is recommended for families following an ASD diagnosis, as little as a quarter of individuals undergo testing (Cuccaro et al., 2014; Zhao et al., 2019). This discrepancy could be explained by many factors, including low genetic literacy rates in these populations. Prior research has indicated that increased genetic knowledge improves attitudes towards and participation in genetic testing (Krakow et al., 2018). Studies have also demonstrated that racial identifications and cultural values such as religious beliefs affect willingness to participate in genetic testing, for any cause (Luksic et al, 2020). Because genetic testing can prevent unnecessary and potentially painful procedures in those diagnosed with ASD, an increase in genetic literacy is needed (Zhao et al., 2019). Though prior surveys and qualitative studies have investigated families use and perception of genetic testing for ASD, no current surveys have assessed the general populations attitudes towards this issue (Johannessen et al., 2016; Li et al., 2016; Reiff et al., 2017). The present study aims to update current genetic literacy rates and examine its application to genetic testing for ASD. This study will administer the same instrument used in the previous work by the NHGRI's Social and Behavioral Research Branch (Abrams et al, 2015) but will add several scales to measure the relationship of genetic literacy to beliefs about race and control. The number of general population participants will be doubled since the 2015 work, but the proportion of racial/ethnic groups will be kept the same. These additions will enable us to further understand the role of genetic literacy in uptake of genetic testing in the general population, as well as examine the social impact of genetic literacy and its relationship to genetic determinism.

在过去十年中，基因组研究的进步显着提高了将基因组信息应用于许多健康方面的能力。由于临床和直接消费者的基因检测已整合到医疗保健中，因此患者需要就自己的遗传信息做出决定。遗传素养或对遗传原理及其应用的知识是评估人将遗传学应用于自己健康的能力的措施。但是，即使在完成中学教育的人中，遗传素养通常也很低（Chapman等，2019）。除遗传知识之外，还可以使用越来越多的遗传信息来决定您的健康。 NHGRI成员在2016年实施的一项调查发现了中度的遗传素养结果，有50％的样本正确回答了所有问题。尽管这种较高的遗传素养率提高了参与者对他们决策能力的信心，但在媒体中暴露于基因测试也是如此（Abrams等，2016）。随着直接到消费者基因测试的讨论和可用性的增加，必须传播准确的遗传信息，以确保公众能够做出个人健康决定。 尽管以前的研究探索了美国的遗传素养率（Kampourakis，2016; Krakow等，2018），但需要更新率并将其应用于自闭症谱系障碍（ASD）基因测试目前无法解释的差距。尽管在ASD诊断后建议家庭进行基因检测，但只有四分之一的人接受测试（Cuccaro等，2014； Zhao等，2019）。这种差异可以用许多因素来解释，包括这些人群中的遗传素养率低。先前的研究表明，增加的遗传知识可以改善对基因检测的态度和参与（Krakow等，2018）。研究还表明，种族认同和文化价值观（例如宗教信仰）会影响任何原因的意愿参加基因检测（Luksic等，2020）。由于基因检测可以预防被诊断为ASD的人的不必要和潜在的痛苦程序，因此需要增加遗传素养（Zhao等，2019）。尽管先前的调查和定性研究已经调查了家庭对ASD的基因检测的使用和感知，但目前没有调查评估了对这个问题的一般人口态度（Johannessen等，2016; Li等，2016; Reiff等，2017）。本研究旨在更新当前的遗传素养率，并检查其在ASD基因测试中的应用。 这项研究将管理NHGRI的社会和行为研究分支（Abrams等，2015）在先前工作中使用的相同工具，但将添加几个量表来衡量遗传素养与对种族和控制的信念的关系。自2015年工作以来，普通人群的人数将增加一倍，但种族/族裔群体的比例将保持不变。这些增加将使我们能够进一步了解遗传素养在遗传测试中在普通人群中的作用，并研究遗传素养的社会影响及其与遗传决定论的关系。