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A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory’s perspective
Genetics in Medicine ( IF 8.8 ) Pub Date : 2021-08-25 , DOI: 10.1038/s41436-021-01301-y
Aly Khalifa 1 , Clinton C Mason 2 , Jennifer Hornung Garvin 1, 3, 4 , Marc S Williams 5 , Guilherme Del Fiol 1 , Brian R Jackson 1, 6 , Steven B Bleyl 2, 7 , Stanley M Huff 1, 8
Affiliation  

Purpose

Genetic laboratory test reports can often be of limited computational utility to the receiving clinical information systems, such as clinical decision support systems. Many health-care interoperability (HC) standards aim to tackle this problem, but the perceived benefits, challenges, and motivations for implementing HC interoperability standards from the labs’ perspective has not been systematically assessed.

Methods

We surveyed genetic testing labs across the United States and conducted a semistructured interview with responding lab representatives. We conducted a thematic analysis of the interview transcripts to identify relevant themes. A panel of experts discussed and validated the identified themes.

Results

Nine labs participated in the interview, and 24 relevant themes were identified within five domains. These themes included the challenge of complex and changing genetic knowledge, the motivation of competitive advantage, provided financial incentives, and the benefit of supporting the learning health system.

Conclusion

Our study identified the labs’ perspective on various aspects of implementing HC interoperability standards in producing and communicating genetic test reports. Interviewees frequently reported that increased adoption of HC standards may be motivated by competition and programs incentivizing and regulating the incorporation of interoperability standards for genetic test data, which could benefit quality control, research, and other areas.



中文翻译:

基因检测报告的生物医学信息学互操作性标准的定性研究:从检测实验室的角度来看的好处、挑战和动机

目的

遗传实验室测试报告对于接收临床信息系统(例如临床决策支持系统)的计算效用通常有限。许多医疗保健互操作性 (HC) 标准旨在解决这个问题,但从实验室的角度实施 HC 互操作性标准的感知好处、挑战和动机尚未得到系统评估。

方法

我们调查了美国各地的基因检测实验室,并对响应的实验室代表进行了半结构化访谈。我们对采访记录进行了主题分析,以确定相关主题。专家小组讨论并验证了确定的主题。

结果

九个实验室参与了采访,在五个领域中确定了 24 个相关主题。这些主题包括复杂和不断变化的遗传知识的挑战、竞争优势的动机、提供的经济激励以及支持学习卫生系统的好处。

结论

我们的研究确定了实验室对在生成和交流基因检测报告中实施 HC 互操作性标准的各个方面的看法。受访者经常报告说,增加采用 HC 标准可能是由于竞争和计划激励和规范基因测试数据的互操作性标准的结合,这可能有利于质量控制、研究和其他领域。

更新日期:2021-08-25
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