一种面向人群基因检测的无障碍通信系统：开发与可用性研究。
An Accessible Communication System for Population-Based Genetic Testing: Development and Usability Study.
作者信息
Coffin Tara, Bowen Deborah, Swisher Elizabeth, Lu Karen, Rayes Nadine, Norquist Barbara, Blank Stephanie, Levine Douglas, Bakkum-Gamez Jamie, Fleming Gini, Olopade Olufunmilayo, D'Andrea Alan, Nebgen Denise, Peterson Christine, Munsell Mark, Gavin Kathleen, Lechner Rebecca, Crase Jamie, Polinsky Deborah, Romero Iris
机构信息
University of Washington, Seattle, WA, United States.
MD Anderson Cancer Center, Houston, TX, United States.
出版信息
JMIR Form Res. 2022 Oct 17;6(10):e34055. doi: 10.2196/34055.
BACKGROUND
Genetic testing uptake is low, despite the well-established connection between pathogenic variants in certain cancer-linked susceptibility genes and ovarian cancer risk. Given that most major insurers cover genetic testing for those with a family history suggestive of hereditary cancer, the issue may lie in access to genetic testing. Remotely accessible web-based communication systems may improve awareness, and uptake, of genetic testing services.
OBJECTIVE
This study aims to present the development and formative evaluation of the multistep web-based communication system required to support the implementation of, and access to, genetic testing.
METHODS
While designing the multistep web-based communication system, we considered various barriers and facilitators to genetic testing, guided by dimensions of accessibility. In addition to conducting usability testing, we performed ongoing assessments focusing on the function of the web-based system and participant response rates, with the goal of continuing to make modifications to the web-based communication system as it is in use.
RESULTS
The combined approach of usability testing and expert user experience consultation resulted in several modifications to the multistep web-based communication system, including changes that related to imagery and content, web accessibility, and general organization of the web-based system. All recommendations were made with the goal of improving the overall accessibility of the web-based communication system.
CONCLUSIONS
A multistep web-based communication system appears to be an effective way to address many potential barriers to access, which may otherwise make genetic testing difficult for at-risk individuals to participate in. Importantly, some dimensions of access were easy to assess before study recruitment, but other aspects of the communication system required ongoing assessment during the implementation process of the Making Genetic Testing Accessible study.
背景
尽管某些癌症相关易感基因中的致病变异与卵巢癌风险之间的联系已得到充分证实，但基因检测的接受度仍然很低。鉴于大多数主要保险公司都为有遗传性癌症家族史的人提供基因检测，问题可能在于基因检测的可及性。基于网络的远程通信系统可能会提高对基因检测服务的认知度和接受度。
目的
本研究旨在介绍支持基因检测实施和获取所需的多步骤基于网络的通信系统的开发和形成性评估。
方法
在设计多步骤基于网络的通信系统时，我们以可及性维度为指导，考虑了基因检测的各种障碍和促进因素。除了进行可用性测试外，我们还持续评估基于网络的系统功能和参与者回复率，目的是在该基于网络的通信系统投入使用时继续进行修改。
结果
可用性测试和专家用户体验咨询相结合的方法导致对多步骤基于网络的通信系统进行了多项修改，包括与图像和内容、网络可及性以及基于网络的系统总体组织相关的更改。所有建议都是为了提高基于网络的通信系统的整体可及性。
结论
多步骤基于网络的通信系统似乎是解决许多潜在获取障碍的有效方法，否则这些障碍可能会使有风险的个体难以参与基因检测。重要的是，在研究招募之前，一些获取维度很容易评估，但通信系统的其他方面在“让基因检测可及”研究的实施过程中需要持续评估。
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