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

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). Method...

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Veröffentlicht in:Genetics in medicine 2015-09, Vol.17 (9), p.753-756
Hauptverfasser: Feero, W. Gregory, Facio, Flavia M., Glogowski, Emily A., Hampel, Heather L., Stopfer, Jill E., Eidem, Haley, Pizzino, Amy M., Barton, David K., Biesecker, Leslie G.
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container_issue 9
container_start_page 753
container_title Genetics in medicine
container_volume 17
creator Feero, W. Gregory
Facio, Flavia M.
Glogowski, Emily A.
Hampel, Heather L.
Stopfer, Jill E.
Eidem, Haley
Pizzino, Amy M.
Barton, David K.
Biesecker, Leslie G.
description 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.
doi_str_mv 10.1038/gim.2014.179
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Gregory ; Facio, Flavia M. ; Glogowski, Emily A. ; Hampel, Heather L. ; Stopfer, Jill E. ; Eidem, Haley ; Pizzino, Amy M. ; Barton, David K. ; Biesecker, Leslie G.</creator><creatorcontrib>Feero, W. Gregory ; Facio, Flavia M. ; Glogowski, Emily A. ; Hampel, Heather L. ; Stopfer, Jill E. ; Eidem, Haley ; Pizzino, Amy M. ; Barton, David K. ; Biesecker, Leslie G.</creatorcontrib><description>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. 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Gregory</creatorcontrib><creatorcontrib>Facio, Flavia M.</creatorcontrib><creatorcontrib>Glogowski, Emily A.</creatorcontrib><creatorcontrib>Hampel, Heather L.</creatorcontrib><creatorcontrib>Stopfer, Jill E.</creatorcontrib><creatorcontrib>Eidem, Haley</creatorcontrib><creatorcontrib>Pizzino, Amy M.</creatorcontrib><creatorcontrib>Barton, David K.</creatorcontrib><creatorcontrib>Biesecker, Leslie G.</creatorcontrib><title>Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General’s My Family Health Portrait</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>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). 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Gregory</au><au>Facio, Flavia M.</au><au>Glogowski, Emily A.</au><au>Hampel, Heather L.</au><au>Stopfer, Jill E.</au><au>Eidem, Haley</au><au>Pizzino, Amy M.</au><au>Barton, David K.</au><au>Biesecker, Leslie G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General’s My Family Health Portrait</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2015-09-01</date><risdate>2015</risdate><volume>17</volume><issue>9</issue><spage>753</spage><epage>756</epage><pages>753-756</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><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%). 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692/699/67/1504/1885
692/700/1750
Adult
Aged
Aged, 80 and over
Algorithms
Biomedicine
brief-report
Colorectal Neoplasms - diagnosis
Colorectal Neoplasms - genetics
Family Health
Female
Genetic Predisposition to Disease
Human Genetics
Humans
Laboratory Medicine
Male
Medical History Taking - methods
Medical History Taking - standards
Middle Aged
Pedigree
Risk Assessment - methods
Risk Assessment - standards
Software
United States
title 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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