title: Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Maine-Dartmouth Family Medicine Residency, Fairfield, Maine, USA.
authors.forename: W Gregory
authors.identifier: http://orcid.org/0000-0002-1835-8524
authors.initials: WG
authors.lastname: Feero
authors.affiliation: Inova Translational Medicine Institute, Falls Church, Virginia, USA.
authors.forename: Flavia M
authors.initials: FM
authors.lastname: Facio
authors.affiliation: Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
authors.forename: Emily A
authors.identifier: http://orcid.org/0000-0002-9996-4904
authors.initials: EA
authors.lastname: Glogowski
authors.affiliation: Division of Human Genetics, The Ohio State University, Columbus, Ohio, USA.
authors.forename: Heather L
authors.initials: HL
authors.lastname: Hampel
authors.affiliation: Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Jill E
authors.initials: JE
authors.lastname: Stopfer
authors.affiliation: Department of Genetics, Vanderbilt University, Nashville, Tennessee, USA.
authors.forename: Haley
authors.initials: H
authors.lastname: Eidem
authors.affiliation: White Matter Disease Program, Children's National Health System, Washington, DC, USA.
authors.forename: Amy M
authors.initials: AM
authors.lastname: Pizzino
authors.affiliation: Department of Biomedical Engineering, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: David K
authors.initials: DK
authors.lastname: Barton
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Leslie G
authors.identifier: http://orcid.org/0000-0002-0197-3811
authors.initials: LG
authors.lastname: Biesecker
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000465:Algorithms; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008487:Medical History Taking / Q000379:methods* / Q000592:standards; D008875:Middle Aged; D010375:Pedigree; D018570:Risk Assessment / Q000379:methods* / Q000592:standards; D012984:Software; D014481:United States