Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities

R. Ryanne Wu, Rachel A. Myers, Joan Neuner, Catherine McCarty, Irina V Haller, Melissa Harry, Kimberly G. Fulda, David Dimmock, Tejinder Rakhra-Burris, Adam Buchanan, Geoffrey S. Ginsburg, Lori A. Orlando

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Systematically assessing disease risk can improve population health by identifying those eligible for enhanced prevention/screening strategies. This study aims to determine the clinical impact of a systematic risk assessment in diverse primary care populations.

METHODS: Hybrid implementation-effectiveness trial of a family health history-based health risk assessment (HRA) tied to risk-based guideline recommendations enrolling from 2014-2017 with 12 months of post-intervention survey data and 24 months of electronic medical record (EMR) data capture.

SETTING: 19 primary care clinics at four geographically and culturally diverse U.S. healthcare systems.

PARTICIPANTS: any English or Spanish-speaking adult with an upcoming appointment at an enrolling clinic.

METHODS: A personal and family health history based HRA with integrated guideline-based clinical decision support (CDS) was completed by each participant prior to their appointment. Risk reports were provided to patients and providers to discuss at their clinical encounter.

OUTCOMES: provider and patient discussion and provider uptake (i.e. ordering) and patient uptake (i.e. recommendation completion) of CDS recommendations.

MEASURES: patient and provider surveys and EMR data.

RESULTS: One thousand eight hundred twenty nine participants (mean age 56.2 [SD13.9], 69.6% female) completed the HRA and had EMR data available for analysis. 762 (41.6%) received a recommendation (29.7% for genetic counseling (GC); 15.2% for enhanced breast/colon cancer screening). Those with recommendations frequently discussed disease risk with their provider (8.7%-38.2% varied by recommendation, p-values ≤ 0.004). In the GC subgroup, provider discussions increased referrals to counseling (44.4% with vs. 5.9% without, P < 0.001). Recommendation uptake was highest for colon cancer screening (provider = 67.9%; patient = 86.8%) and lowest for breast cancer chemoprevention (0%).

CONCLUSIONS: Systematic health risk assessment revealed that almost half the population were at increased disease risk based on guidelines. Risk identification resulted in shared discussions between participants and providers but variable clinical action uptake depending upon the recommendation. Understanding the barriers and facilitators to uptake by both patients and providers will be essential for optimizing HRA tools and achieving their promise of improving population health.

TRIAL REGISTRATION: number NCT01956773 , registered 10/8/2013.

Original languageEnglish (US)
Article number1486
JournalBMC Health Services Research
Issue number1
StatePublished - Dec 2022

Bibliographical note

Funding Information:
In this paper, we report the clinical impact of a systematic family health history (FHH)-based HRA on 1) provider referral for and 2) patient performance of risk-based guideline recommendations across four diverse healthcare systems. The HBM was used to guide the development, deployment, and evaluation of the HRA intervention. We have previously published this study’s implementation outcomes [, ] and the potential impact of systematic HRA on population health []. This study was funded by the National Institutes of Health as part of the Implementing Genomics in Practice network [].

Funding Information:
This study was funded by NIH grant no. 1 U01 HG007282. The funder had no involvement in the design, conduct, data collection, analysis, or manuscript preparation. This article was prepared while Geoffrey Ginsburg was employed at Duke University. The opinions expressed in this article are the author's own and do not reflect the view of the National Institutes of Health, the Department of Health and Human Services, or the United States government.

Publisher Copyright:
© 2022, The Author(s).


  • Clinical decision support
  • Family health history
  • Health belief model
  • Hybrid implementation-effectiveness
  • Precision medicine
  • Risk assessment
  • Medical History Taking
  • Risk Assessment
  • Humans
  • Middle Aged
  • Male
  • Genetic Counseling
  • Delivery of Health Care
  • Female

PubMed: MeSH publication types

  • Journal Article


Dive into the research topics of 'Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities'. Together they form a unique fingerprint.

Cite this