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

• Published in: American journal of medical genetics. Part C, Seminars in medical genetics Vol. 166C; no. 1; pp. 24 - 33
• Main Authors: Orlando, Lori A., Wu, R. Ryanne, Beadles, Chris, Himmel, Tiffany, Buchanan, Adam H., Powell, Karen P., Hauser, Elizabeth R., Henrich, Vincent C., Ginsburg, Geoffrey S.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.03.2014; Wiley Subscription Services, Inc
• Subjects: Adult; Age; Breast cancer; Colorectal cancer; Decision Support Techniques; family history; Family medical history; Genetic counseling; Genetic Counseling - methods; Genetics; Genetics, Medical - methods; Genetics, Medical - trends; health services; Humans; Medical History Taking - methods; Neoplasms - genetics; North Carolina; Ovarian cancer; Precision Medicine - methods; Precision Medicine - trends; Primary care; Primary Health Care - methods; Primary Health Care - trends; primary prevention; Risk Assessment - methods; Risk Assessment - statistics & numerical data; risk stratification; Thrombosis; Thrombosis - genetics; North Carolina; primary prevention; risk stratification; family history; health services
• ISSN: 1552-4868; 1552-4876
• DOI: 10.1002/ajmg.c.31388

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.