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 |
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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 |
format | Article |
fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5890930</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1709705962</sourcerecordid><originalsourceid>FETCH-LOGICAL-c450t-8d288ef4571257dd4519797d21971b0a26a853c43867d8e2c3a55f4f2b3b3bab3</originalsourceid><addsrcrecordid>eNptkc9rFDEUxwdRbK3ePEvAiwdnzY_JJHMRpNhWqFioPYds5s1uamayJpnK3vw3-u_5l_iWraWK5JCQ9-GT9_KtqpeMLhgV-t3KjwtOWbNgqntUHTIpaE1F2z7GM-10LVpKD6pnOV9TypTg9Gl1wKXkTAh5WN1eJAh-9JNNW3Jjg-9t8XEicSCWuDjleYRUx-RhKtDjTYgJXLGBODs5SCT5_I3YnCHnERlSYsRaHDfoWQYgP3xZk7IGcnVJLue0ApSfwgTJhl8_bzP5vCUndvRhS87ABmQvYirJ-vK8ejLYkOHF3X5UXZ18_Hp8Vp9_Of10_OG8do2kpdY91xqGRirGper7RrJOdarnuLEltby1WgrXCN2qXgN3wko5NANfClx2KY6q93vvZl6O0DscAnszm-RH_BMTrTd_Vya_Nqt4Y6TuaCcoCt7cCVL8PkMuZvTZQQh2gjhnwxTtFJVdyxF9_Q96Hec04XiG6aZRXCu9o97uKZdizgmG-2YYNbvMDWZudpmju0P81cMB7uE_ISNQ74GMpWkF6cGr_xP-BmPluqg</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1844728782</pqid></control><display><type>article</type><title>Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General’s My Family Health Portrait</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Alma/SFX Local Collection</source><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.</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.
Genet Med
17
9, 753–756.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/gim.2014.179</identifier><identifier>PMID: 25521335</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>631/1647/794 ; 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</subject><ispartof>Genetics in medicine, 2015-09, Vol.17 (9), p.753-756</ispartof><rights>American College of Medical Genetics and Genomics 2015</rights><rights>Copyright Nature Publishing Group Sep 2015</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c450t-8d288ef4571257dd4519797d21971b0a26a853c43867d8e2c3a55f4f2b3b3bab3</citedby><cites>FETCH-LOGICAL-c450t-8d288ef4571257dd4519797d21971b0a26a853c43867d8e2c3a55f4f2b3b3bab3</cites><orcidid>0000-0002-0197-3811 ; 0000-0002-9996-4904 ; 0000-0002-1835-8524</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25521335$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Feero, W. 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).
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.</description><subject>631/1647/794</subject><subject>692/699/67/1504/1885</subject><subject>692/700/1750</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Algorithms</subject><subject>Biomedicine</subject><subject>brief-report</subject><subject>Colorectal Neoplasms - diagnosis</subject><subject>Colorectal Neoplasms - genetics</subject><subject>Family Health</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Laboratory Medicine</subject><subject>Male</subject><subject>Medical History Taking - methods</subject><subject>Medical History Taking - standards</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Risk Assessment - methods</subject><subject>Risk Assessment - standards</subject><subject>Software</subject><subject>United States</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNptkc9rFDEUxwdRbK3ePEvAiwdnzY_JJHMRpNhWqFioPYds5s1uamayJpnK3vw3-u_5l_iWraWK5JCQ9-GT9_KtqpeMLhgV-t3KjwtOWbNgqntUHTIpaE1F2z7GM-10LVpKD6pnOV9TypTg9Gl1wKXkTAh5WN1eJAh-9JNNW3Jjg-9t8XEicSCWuDjleYRUx-RhKtDjTYgJXLGBODs5SCT5_I3YnCHnERlSYsRaHDfoWQYgP3xZk7IGcnVJLue0ApSfwgTJhl8_bzP5vCUndvRhS87ABmQvYirJ-vK8ejLYkOHF3X5UXZ18_Hp8Vp9_Of10_OG8do2kpdY91xqGRirGper7RrJOdarnuLEltby1WgrXCN2qXgN3wko5NANfClx2KY6q93vvZl6O0DscAnszm-RH_BMTrTd_Vya_Nqt4Y6TuaCcoCt7cCVL8PkMuZvTZQQh2gjhnwxTtFJVdyxF9_Q96Hec04XiG6aZRXCu9o97uKZdizgmG-2YYNbvMDWZudpmju0P81cMB7uE_ISNQ74GMpWkF6cGr_xP-BmPluqg</recordid><startdate>20150901</startdate><enddate>20150901</enddate><creator>Feero, W. Gregory</creator><creator>Facio, Flavia M.</creator><creator>Glogowski, Emily A.</creator><creator>Hampel, Heather L.</creator><creator>Stopfer, Jill E.</creator><creator>Eidem, Haley</creator><creator>Pizzino, Amy M.</creator><creator>Barton, David K.</creator><creator>Biesecker, Leslie G.</creator><general>Nature Publishing Group US</general><general>Elsevier Limited</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-0197-3811</orcidid><orcidid>https://orcid.org/0000-0002-9996-4904</orcidid><orcidid>https://orcid.org/0000-0002-1835-8524</orcidid></search><sort><creationdate>20150901</creationdate><title>Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General’s My Family Health Portrait</title><author>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.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c450t-8d288ef4571257dd4519797d21971b0a26a853c43867d8e2c3a55f4f2b3b3bab3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>631/1647/794</topic><topic>692/699/67/1504/1885</topic><topic>692/700/1750</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Algorithms</topic><topic>Biomedicine</topic><topic>brief-report</topic><topic>Colorectal Neoplasms - diagnosis</topic><topic>Colorectal Neoplasms - genetics</topic><topic>Family Health</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Laboratory Medicine</topic><topic>Male</topic><topic>Medical History Taking - methods</topic><topic>Medical History Taking - standards</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Risk Assessment - methods</topic><topic>Risk Assessment - standards</topic><topic>Software</topic><topic>United States</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Feero, W. 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><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Feero, W. 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%). 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.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>25521335</pmid><doi>10.1038/gim.2014.179</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0002-0197-3811</orcidid><orcidid>https://orcid.org/0000-0002-9996-4904</orcidid><orcidid>https://orcid.org/0000-0002-1835-8524</orcidid><oa>free_for_read</oa></addata></record> |
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source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
subjects | 631/1647/794 692/699/67/1504/1885 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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