Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait.
Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait.
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初步验证了面向消费者的结直肠癌风险评估工具，与美国外科医生的“我的家庭健康画像”兼容。
DOI：
10.1038/gim.2014.179
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发表时间：
2015
期刊：
影响因子：
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通讯作者：
Biesecker,LeslieG
中科院分区：
文献类型：
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作者：
Feero,WGregory;Facio,FlaviaM;Glogowski,EmilyA;Hampel,HeatherL;Stopfer,JillE;Eidem,Haley;Pizzino,AmyM;Barton,DavidK;Biesecker,LeslieG
目的：本研究探讨了一个软件工具的分析有效性，该软件旨在为个人提供基于个人健康和家族史信息的结直肠癌风险评估。该软件是与美国卫生局局长的我的家庭健康Portrait（MFHP）。方法：风险评估的算法被创建使用公认的结直肠风险评估指南和编程到一个软件工具（MFHP）。来自150个家系使用MFHP工具的风险评估进行了比较，与“金标准”的风险评估开发的三个专家癌症遗传counsels.Results：遗传顾问风险评估显示大量的，但不完美，协议。与遗传咨询师家系审查相比，MFHP对结直肠癌风险评估的敏感性为81%（95%置信区间：54-96%），特异性为90%（95%置信区间：83-94%）。MFHP风险的阳性预测值为48%（95%置信区间：29-68%），而阴性预测值为98%（95%置信区间：93-99%）。结论：MFHP结直肠癌风险评估软件的分析效度与初级保健中使用的其他类型的筛查工具相似。未来的研究应探索该软件在不同人群中的临床有效性和实用性。
Purpose:This study examines the analytic validity of a software tool designed to provide individuals with risk assessments for colorectal cancer based on personal health and family history information. The software is compatible with the US Surgeon General’s My Family Health Portrait (MFHP).Methods:An algorithm for risk assessment was created using accepted colorectal risk assessment guidelines and programmed into a software tool (MFHP). Risk assessments derived from 150 pedigrees using the MFHP tool were compared with “gold standard” risk assessments developed by three expert cancer genetic counselors.Results:Genetic counselor risk assessments showed substantial, but not perfect, agreement. MFHP risk assessments for colorectal cancer yielded a sensitivity for colorectal cancer risk of 81%(95% confidence interval: 54–96%) and specificity of 90%(95% confidence interval: 83–94%), as compared with genetic counselor pedigree review. The positive predictive value for risk for MFHP was 48%(95% confidence interval: 29–68%), whereas the negative predictive value was 98%(95% confidence interval: 93–99%). Agreement between MFHP and genetic counselor pedigree review was moderate (κ= 0.54).Conclusion:The analytic validity of the MFHP colorectal cancer risk assessment software is similar to those of other types of screening tools used in primary care. Future investigations should explore the clinical validity and utility of the software in diverse population groups.