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
 
(2014)
 
doi:10.1038/gim.2014.179
Received
 
Accepted
 
Published online 

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 advance online publication 18 December 2014
View full text

Keywords:

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

References

  1. Yoon PW, Scheuner MT, Khoury MJ. Research priorities for evaluating family history in the prevention of common chronic diseases. Am J Prev Med 2003;24:128–135.
  2. Rich EC, Burke W, Heaton CJ, et al. Reconsidering the family history in primary care. J Gen Intern Med 2004;19:273–280.
  3. Qureshi N, Carroll JC, Wilson B, et al. The current state of cancer family history collection tools in primary care: a systematic review. Genet Med 2009;11:495–506.
  4. Reid GT, Walter FM, Brisbane JM, Emery JD. Family history questionnaires designed for clinical use: a systematic review. Public Health Genomics 2009;12:73–83.
  5. Orlando LA, Buchanan AH, Hahn SE, et al. Development and validation of a primary care-based family health history and decision support program (MeTree). NC Med J2013;74:287–296.
  6. Qureshi N, Wilson B, Santaguida P, et al. Family History and Improving Health. Evidence Report/Technology Assessment. Agency for Healthcare Research and Quality. 2009:1–135.http://www.ahrq.gov/research/findings/evidence-based-reports/famhimp-evidence-report.pdf.
  7. Special report: exome sequencing for clinical diagnosis of patients with suspected genetic disorders. http://www.bcbs.com/blueresources/tec/vols/28/28_03.pdf. Accessed 19 December 2013.
  8. Yoon PW, Scheuner MT, Jorgensen C, Khoury MJ. Developing Family Healthware, a family history screening tool to prevent common chronic diseases. Prev Chronic Dis 2009;6:A33.
  9. Facio FM, Feero WG, Linn A, Oden N, Manickam K, Biesecker LG. Validation of My Family Health Portrait for six common heritable conditions. Genet Med 2010;12:370–375.
  10. Feero WG, Bigley MB, Brinner KM; Family Health History Multi-Stakeholder Workgroup of the American Health Information Community. New standards and enhanced utility for family health history information in the electronic health record: an update from the American Health Information Community’s Family Health History Multi-Stakeholder Workgroup. J Am Med Inform Assoc 2008;15:723–728.
  11. Owens KM, Marvin ML, Gelehrter TD, Ruffin MT 4th, Uhlmann WR. Clinical use of the Surgeon General’s “My Family Health Portrait” (MFHP) tool: opinions of future health care providers. J Genet Couns 2011;20:510–525.
  12. Kanetzke EE, Lynch J, Prows CA, Siegel RM, Myers MF. Perceived utility of parent-generated family health history as a health promotion tool in pediatric practice. Clin Pediatr (Phila) 2011;50:720–728.
  13. The US Surgeon General’s My Family Health Portrait.https://familyhistory.hhs.gov/FHH/html/index.html. Accessed 2 July 2012.
  14. Valdez R, Yoon PW, Qureshi N, Green RF, Khoury MJ. Family history in public health practice: a genomic tool for disease prevention and health promotion. Annu Rev Publ Health2010;31:69–87 1 p following 87.
  15. Biesecker LG, Mullikin JC, Facio FM, et al.; NISC Comparative Sequencing Program. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.Genome Res 2009;19:1665–1674.
  16. Qureshi N, Bethea J, Modell B, et al. Collecting genetic information in primary care: evaluating a new family history tool. Fam Pract 2005;22:663–669.
  17. Landis JR, Koch GG. The measurement of observer agreement for categorical data.Biometrics 1977;33:159–174.
  18. Roberts NJ, Vogelstein JT, Parmigiani G, Kinzler KW, Vogelstein B, Velculescu VE. The predictive capacity of personal genome sequencing. Sci Transl Med 2012;4:133ra158.
  19. Taylor DP, Stoddard GJ, Burt RW, et al. How well does family history predict who will get colorectal cancer? Implications for cancer screening and counseling. Genet Med2011;13:385–391.
  20. Madlensky L, Daftary D, Burnett T, et al. Accuracy of colorectal polyp self-reports: findings from the colon cancer family registry. Cancer Epidemiol Biomarkers Prev2007;16:1898–1901.
Download references

Author information

Affiliations

  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

Correspondence to: 

Supplementary information

Word documents


  1. Supplementary Appendix S1 (24 KB)

Publicado por en

No hay comentarios:

Publicar un comentario

Suscribirse a: Enviar comentarios (Atom)