Lewis Katie L, Facio Flavia M, Berrios Courtney D
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.
Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, Missouri.
J Genet Couns. 2019 Apr;28(2):419-427. doi: 10.1002/jgc4.1090. Epub 2019 Jan 17.
Exome and genome sequencing (EGS) are increasingly the genetic testing modalities of choice among researchers owing to their ready availability, low cost, and large data output. Recruitment of larger, more diverse cohorts into long-term studies with extensive data collection is fundamental to the success of EGS research and to the widespread benefit of genomic medicine to various populations. Effective engagement will be critical to meeting this demand. The Diffusion of Innovation (DOI) model provides a framework for how new technologies are adopted in communities, including antecedents of an individual's decision to adopt the technology, how the technology's attributes influence its acceptability, the predictors of sustained use of that technology, and its diffusion through society. We apply the DOI model to frame participant engagement in EGS research and to guide the proposal of potential strategies that aim to overcome forecasted challenges. Finally, we suggest a variety of ways genetic counselors can apply their skills and training to the development and implementation of these strategies.
外显子组和基因组测序（EGS）因其易于获取、成本低和数据输出量大，越来越成为研究人员首选的基因检测方式。招募更大、更多样化的队列参与长期研究并进行广泛的数据收集，对于EGS研究的成功以及基因组医学造福不同人群至关重要。有效的参与对于满足这一需求至关重要。创新扩散（DOI）模型提供了一个框架，用于说明新技术如何在社区中被采用，包括个人采用该技术的决策前提、技术属性如何影响其可接受性、该技术持续使用的预测因素以及其在社会中的传播。我们应用DOI模型来构建EGS研究中的参与者参与，并指导旨在克服预期挑战的潜在策略的提出。最后，我们提出了多种方法，遗传咨询师可以将他们的技能和培训应用于这些策略的制定和实施。
