Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework



This paper describes the implementation outcomes associated with integrating a family health history–based risk assessment and clinical decision support platform within primary care clinics at four diverse healthcare systems.


A type III hybrid implementation-effectiveness trial. Uptake and implementation processes were evaluated using the Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) framework.


One hundred (58%) primary care providers and 2514 (7.8%) adult patients enrolled. Enrolled patients were 69% female, 22% minority, and 32% Medicare/Medicaid. Compared with their respective clinic’s population, patient-participants were more likely to be female (69 vs. 59%), older (mean age 57 vs. 49), and Caucasian (88 vs. 69%) (all p values <0.001). Female (81.3% of females vs. 78.5% of males, p value = 0.018) and Caucasian (Caucasians 90.4% vs. minority 84.1%, p value = 0.02) patient-participants were more likely to complete the study once enrolled. Patient-participant survey responses indicated MeTree was easy to use (95%), and patient-participants would recommend it to family/friends (91%). Minorities and those with less education reported greatest benefit. Enrolled providers reflected demographics of underlying provider population.


Family health history–based risk assessment can be effectively implemented in diverse primary care settings and can effectively engage patients and providers. Future research should focus on finding better ways to engage young adults, males, and minorities in preventive healthcare.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

Fig. 1


  1. 1.

    Geng EH, Peiris D, Kruk ME. Implementation science: relevance in the real world without sacrificing rigor. PLoS Med. 2017;14:e1002288.

  2. 2.

    Carroll JC, Campbell-Scherer D, Permaul JA, et al. Assessing family history of chronic disease in primary care: Prevalence, documentation, and appropriate screening. Can Fam Physician. 2017;63:e58–e67.

  3. 3.

    Suther S, Goodson P. Barriers to the provision of genetic services by primary care physicians: a systematic review of the literature. Genet Med. 2003;5:70–76.

  4. 4.

    Wu RR, Himmel TL, Buchanan AH, et al. Quality of family history collection with use of a patient facing family history assessment tool. BMC Fam Pract. 2014;15:31.

  5. 5.

    Orlando LA, Wu RR, Beadles C, et al. Implementing family health history risk stratification in primary care: impact of guideline criteria on populations and resource demand. Am J Med Genet C Semin Med Genet. 2014;166C:24–33.

  6. 6.

    Acton RT, Burst NM, Casebeer L, et al. Knowledge, attitudes, and behaviors of Alabama’s primary care physicians regarding cancer genetics. Acad Med. 2000;75:850–2.

  7. 7.

    Barrison AF, Smith C, Oviedo J, et al. Colorectal cancer screening and familial risk: a survey of internal medicine residents’ knowledge and practice patterns. Am J Gastroenterol. 2003;98:1410–6.

  8. 8.

    Gramling R, Nash J, Siren K, et al. Family physician self-efficacy with screening for inherited cancer risk. Ann Fam Med. 2004;2:130–2.

  9. 9.

    Rich EC, Burke W, Heaton CJ, et al. Reconsidering the family history in primary care. J Gen Intern Med. 2004;19:273–80.

  10. 10.

    Cohn WF, Ropka ME, Pelletier SL, et al. Health Heritage, a web-based tool for the collection and assessment of family health history: initial user experience and analytic validity. Public Health Genomics. 2010;13:477–91

  11. 11.

    Hulse NC, Ranade-Kharkar P, Post H, et al. Development and early usage patterns of a consumer-facing family health history tool. AMIA Annu Symp Proc. 2011;2011:578–87.

  12. 12.

    Beadles CA, Ryanne Wu R, Himmel T, et al. Providing patient education: impact on quantity and quality of family health history collection. Fam Cancer. 2014;13:325–32.

  13. 13.

    Orlando LA, Wu RR, Myers RA, et al. Clinical utility of a web-enabled risk-assessment and clinical decision support program. Genet Med. 2016;18:1020–8

  14. 14.

    Orlando LA, Hauser ER, Christianson C, et al. Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system. BMC Health Serv Res. 2011;11:264.

  15. 15.

    Wu RR, Orlando LA, Himmel TL, et al. Patient and primary care provider experience using a family health history collection, risk stratification, and clinical decision support tool: a type 2 hybrid controlled implementation-effectiveness trial. BMC Fam Pract. 2013;14:111.

  16. 16.

    Wu RR, Myers RA, McCarty CA, et al. Protocol for the “Implementation, adoption, and utility of family history in diverse care settings” study. Implement Sci. 2015;10:163.

  17. 17.

    Weitzel KW, Alexander M, Bernhardt BA, et al. The IGNITE network: a model for genomic medicine implementation and research. BMC Med Genom. 2016;9:1.

  18. 18.

    Glasgow RE, Vogt TM, Boles SM. Evaluating the public health impact of health promotion interventions: the RE-AIM framework. Am J Public Health. 1999;89:1322–7.

  19. 19.

    Weiner BJ. A theory of organizational readiness for change. Implement Sci. 2009;4:67.

  20. 20.

    Powell BJ, Waltz TJ, Chinman MJ, et al. A refined compilation of implementation strategies: results from the Expert Recommendations for Implementing Change (ERIC) project. Implement Sci. 2015;10:21.

  21. 21.

    Shea CM, Jacobs SR, Esserman DA, et al. Organizational readiness for implementing change: a psychometric assessment of a new measure. Implement Sci. 2014;9:7.

  22. 22.

    Gaglio B, Shoup JA, Glasgow RE. The RE-AIM framework: a systematic review of use over time. Am J Public Health. 2013;103:e38–46.

  23. 23.

    Bates D, Mächler M, Bolker B, et al. Fitting Linear Mixed-Effects Models Using Ime4. Journal of Statistical Software 2015;67:48.

  24. 24.

    Gamer MLJ, Fellows I, Sing P. Various coefficients of interrater reliability and agreement (Version 0.83). 2010.

  25. 25.

    Alterovitz G, Warner J, Zhang P, et al. SMART on FHIR Genomics: facilitating standardized clinico-genomic apps. J Am Med Inform Assoc. 2015;22:1173–8.

  26. 26.

    Mandel JC, Kreda DA, Mandl KD, et al. SMART on FHIR: a standards-based, interoperable apps platform for electronic health records. J Am Med Inform Assoc. 2016;23:899–908.

  27. 27.

    Warner JL, Rioth MJ, Mandl KD, et al. SMART precision cancer medicine: a FHIR-based app to provide genomic information at the point of care. J Am Med Inform Assoc. 2016;23:701–10.

  28. 28.

    Yancey AK, Ortega AN, Kumanyika SK. Effective recruitment and retention of minority research participants. Annu Rev Public Health. 2006;27:1–28.

  29. 29.

    Quay TA, Frimer L, Janssen PA, et al. Barriers and facilitators to recruitment of South Asians to health research: A scoping review. BMJ Open. 2017;7:e014889.

  30. 30.

    Baumgart LA, Postula KJV, Knaus WA. Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment. Fam Cancer. 2016;15:331–9.

  31. 31.

    Ozanne EM, Loberg A, Hughes S, et al. Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. Breast J. 2009;15:155–62.

Download references


This study was funded by National Institutes of Health (NIH) grant no. 1 U01 HG007282. The funder had no involvement in the design, conduct, data collection, analysis, or manuscript preparation. Corrine Voils’ effort on this study was supported by a Research Career Scientist award from the Department of Veterans Affairs (RCS 14-443). This study was approved by the institutional review boards of all four participating institutions and the funders. The views are those of the authors and do not reflect the Department of Veterans Affairs or United States Government.

Author information

Correspondence to R. Ryanne Wu MD, MHS.

Ethics declarations


Drs. Wu, Orlando, and Ginsburg have a potential conflict of interest. They recently formed a company, MeTree&You, that will provide MeTree as a clinical service. The other authors declare no conflicts of interest.

Electronic supplementary material

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Wu, R.R., Myers, R.A., Sperber, N. et al. Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework. Genet Med 21, 331–338 (2019) doi:10.1038/s41436-018-0049-x

Download citation


  • Risk assessment
  • Implementation
  • Population health
  • Family history

Further reading