Implementing family health history risk stratification in primary care: Impact of guideline criteria on populations and resource demand

Authors

  • Lori A. Orlando,

    Search for more papers by this author
    • Lori A. Orlando, M.D., M.H.S., is an Associate Professor of Medicine with appointments in the Department of Medicine and Center for Personalized and Precision Medicine at Duke University. She is a practicing internist with a research focus on risk stratification and guideline implementation in primary care.
  • R. Ryanne Wu,

    Search for more papers by this author
    • R. Ryanne Wu, M.D., is a health services research fellow in the Duke University Department of Medicine and VA Health Services Research and Development Program.
  • Chris Beadles,

    Search for more papers by this author
    • Chris Beadles, M.D., Ph.D., has a doctorate in health services research with a focus on decision modeling and economic analyses. He is a fellow in the VA Health Services Research and Development Program.
  • Tiffany Himmel,

    Search for more papers by this author
    • Tiffany Himmel, Ph.D., is a biostatistician in the Duke Institute for Genome Sciences and Policy.
  • Adam H. Buchanan,

    Search for more papers by this author
    • Adam H. Buchanan, M.S. M.P.H., C.G.C., is a Duke University hereditary cancer genetic counselor and health services researcher focusing on cancer screening and genetic counseling services.
  • Karen P. Powell,

    Search for more papers by this author
    • Karen P. Powell, M.S., C.G.C., is a genetic counselor in the Cone Health System, Greensboro, NC.
  • Elizabeth R. Hauser,

    Search for more papers by this author
    • Elizabeth R. Hauser, Ph.D., is a Professor in the Department of Medicine and director of the Center for Human Genomics at Duke University. She has interests in the linkage between genetics and family history and risk stratification.
  • Vincent C. Henrich,

    Search for more papers by this author
    • Vincent C. Henrich, Ph.D., is a Professor of Biology and the director of the Center for Biotechnology, Genomics, & Health Research at the University of North Carolina at Greensboro.
  • Geoffrey S. Ginsburg

    Search for more papers by this author
    • Geoffrey S. Ginsburg, M.D., Ph.D., is a Professor of Medicine and Director of the Center for Personalized and Precision Medicine at Duke University.

  • * Correspondence to: Lori A. Orlando, M.D., M.H.S., 3475 Erwin Rd, 2nd floor Aesthetics Bldg, Durham, NC 27705. E-mail: lorlando@duke.edu

Abstract

The Genomic Medicine Model aims to facilitate patient engagement, patient/provider education of genomics/personalized medicine, and uptake of risk-stratified evidence-based prevention guidelines using MeTree, a patient-facing family health history (FHH) collection and clinical decision support (CDS) program. Here we report the number of increased risk (above population-level risk) patients identified for breast/ovarian cancer, colon cancer, hereditary syndrome risk, and thrombosis; the prevalence of FHH elements triggering increased-risk status; and the resources needed to manage their risk. Study design: hybrid implementation-effectiveness study of adults with upcoming well-visits in 2 primary care practices in Greensboro, NC. Participants: 1,184, mean age = 58.8, female = 58% (N = 694), non-white = 20% (N = 215). Increased Risk: 44% (N = 523). Recommendations: genetic counseling = 26% (N = 308), breast MRI = 0.8% (N = 10), breast chemoprophylaxis = 5% (N = 58), early/frequent colonoscopies = 19% (N = 221), ovarian cancer screening referral = 1% (N = 14), thrombosis testing/counseling = 2.4% (N = 71). FHH elements: 8 FHH elements lead to 37.3% of the increased risk categorizations (by frequency): first-degree-relative (FDR) with polyps age ≥60 (7.1%, N = 85), three relatives with Lynch-related cancers (5.4%, N = 65), FDR with polyps age <60 (5.1%, N = 61), three relatives on same side of family with same cancer (4.9%, N = 59), Gail score ≥1.66% (4.9%, N = 58), two relatives with breast cancer (one ≤age 50) (4.1%, N = 49), one relative with breast cancer ≤age 40 (4.1%, N = 48), FDR with colon cancer age ≥60 (1.7%, N = 20). MeTree identifies a high percentage of individuals in the general primary care population needing non-routine risk management/prevention for the selected conditions. Implementing risk-stratification in primary care will likely increase demand for related-resources, particularly colon screening and GC. Understanding the prevalence of FHH elements helps predict resource needs and may aid in guideline development. © 2014 Wiley Periodicals, Inc.

Ancillary