RAGs: A Novel Approach to Computerized Genetic Risk Assessment and Decision Support from Pedigrees
RAGs: A Novel Approach to Computerized Genetic Risk Assessment and Decision Support from Pedigrees
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RAG：计算机化遗传风险评估和谱系决策支持的新方法
DOI：
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发表时间：
2001
影响因子：
1.7
通讯作者：
Jon Emery
中科院分区：
文献类型：
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作者：
Andrew S. Coulson;D. Glasspool;John Fox;Jon Emery
摘要目的：协助全科医生评估患者的遗传风险的基础上，家族史资料的癌症。研究方法：一种新的计算机应用程序RAGs（遗传学风险评估）已经开发出来，以帮助医生创建图形家谱，并评估乳腺癌和结肠直肠癌的遗传风险。RAGs具有两个区别于类似软件的特点：（一）以用户为中心的设计，考虑到医生与患者接触的要求;（二）通过采用支持或反对风险增加的定性证据进行有效和可访问的风险报告，这比数字概率更容易理解。该系统允许执行任何基于规则的遗传风险指南，并且可以随时修改以满足不同专家所需的不同程度的信息。结果：RAG允许快速，准确的数据输入，并导致更适当的管理决策比通过其他技术。此外，RAGs使临床医生和患者都能够理解它是如何得出结论的，因为定性证据的使用允许程序为其推理提供解释。结论：RAGs系统有望帮助从业者成为更有效的遗传服务的守门人。它可以使医生在决定转介乳腺癌或结直肠癌遗传风险增加的患者时做出明智的选择，并使那些风险较低的患者放心。
Summary Objectives: To assist general practitioners in evaluating patients’ genetic risk of cancer on the basis of family history data. Methods: A new computer application, RAGs (Risk Assessment in Genetics), has been developed to help doctors create graphical family trees and assess the genetic risk of breast and colorectal cancer. RAGs possesses two features that distinguish it from similar software: (i) a user-centred design, which takes into account the requirements of the doctor-patient encounter; (ii) effective and accessible risk reporting by employing qualitative evidence for or against increased risk, which is more easily understood than numerical probabilities. The system allows any rule-based genetic risk guideline to be implemented, and may be readily modified to cater for the varying degrees of information required by different specialists. Results: RAGs permits fast, accurate data entry, and results in more appropriate management decisions than those made via other techniques. In addition, RAGs enables both the clinician and the patient to understand how it arrives at its conclusions, since the use of qualitative evidence allows the program to provide explanations for its reasoning. Conclusions: The RAGs system promises to help practitioners be more effective gatekeepers to genetic services. It may empower doctors both to make an informed choice when deciding to refer patients who are at increased genetic risk of breast or colorectal cancer, and to reassure those who are at low risk.