domingo, 28 de diciembre de 2014

Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait : Genetics in Medicine : Nature Publishing Group

Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait : Genetics in Medicine : Nature Publishing Group

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

Genetics in Medicine
Published online 



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).


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.


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).


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 advance online publication 18 December 2014


colorectal cancer; family history; My Family Health Portrait; risk assessment tools


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Author information


  1. Maine-Dartmouth Family Medicine Residency, Fairfield, Maine, USA

    • W. Gregory Feero
  2. Inova Translational Medicine Institute, Falls Church, Virginia, USA

    • Flavia M. Facio
  3. Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, USA

    • Emily A. Glogowski
  4. Division of Human Genetics, The Ohio State University, Columbus, Ohio, USA

    • Heather L. Hampel
  5. Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA

    • Jill E. Stopfer
  6. Department of Genetics, Vanderbilt University, Nashville, Tennessee, USA

    • Haley Eidem
  7. White Matter Disease Program, Children’s National Health System, Washington, DC, USA

    • Amy M. Pizzino
  8. Department of Biomedical Engineering, University of Michigan, Ann Arbor, Michigan, USA

    • David K. Barton
  9. Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA

    • Leslie G. Biesecker

Corresponding author

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