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. 2015 Sep;17(9):753-6.
doi: 10.1038/gim.2014.179. Epub 2014 Dec 18.

Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait

W Gregory Feero  1 , Flavia M Facio  2 , Emily A Glogowski  3 , Heather L Hampel  4 , Jill E Stopfer  5 , Haley Eidem  6 , Amy M Pizzino  7 , David K Barton  8 , Leslie G Biesecker  9
Affiliations

Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait

W Gregory Feero et al. Genet Med. 2015 Sep.

Abstract

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.Genet Med 17 9, 753-756.

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Conflict of interest statement

Conflict of interest: The authors report no conflict of interest relevant to the content of this manuscript.

Figures

Figure 1
Figure 1
Diagram showing the process used for developing interpretations of 150 unmodified pedigrees derived from the ClinSeq® population (see text) and resulting calculated values for sensitivity, specificity, positive predictive value and negative predictive value calculated Kappa for the My Family Health Portrait colorectal risk algorithm for detection of elevated colorectal cancer risk using expert genetic counselor pedigree interpretation as the “gold standard” for risk interpretation. (TP= true positives; TN= true negatives; PPV= positive predictive value; NPV= negative predictive value; CI= confidence interval)
See this image and copyright information in PMC

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