Review and Comparison of Electronic Patient-Facing Family Health History Tools
- 976 Downloads
Family health history (FHx) is one of the most important pieces of information available to help genetic counselors and other clinicians identify risk and prevent disease. Unfortunately, the collection of FHx from patients is often too time consuming to be done during a clinical visit. Fortunately, there are many electronic FHx tools designed to help patients gather and organize their own FHx information prior to a clinic visit. We conducted a review and analysis of electronic FHx tools to better understand what tools are available, to compare and contrast to each other, to highlight features of various tools, and to provide a foundation for future evaluation and comparisons across FHx tools. Through our analysis, we included and abstracted 17 patient-facing electronic FHx tools and explored these tools around four axes: organization information, family history collection and display, clinical data collected, and clinical workflow integration. We found a large number of differences among FHx tools, with no two the same. This paper provides a useful review for health care providers, researchers, and patient advocates interested in understanding the differences among the available patient-facing electronic FHx tools.
KeywordsFamily health history Health IT Patient engagement Family history tools Pedigree
The authors would like to acknowledge various support for this research. BMW is supported in part by funding from the National Cancer Institute (5K07CA211786) and the Hollings Cancer Center’s Cancer Center Support Grant (P30 CA138313) at the Medical University of South Carolina. LP the University of Utah Program Personalized Health Graduate Fellowship; the Richard A. Fay and Carol M. Fay Endowed Graduate Fellowship for the Department of Biomedical Informatics in Honor of Homer R. Warner, M.D., Ph.D.; and the National Library of Medicine Training Grant (T15LM007124). JDS holds an Edward B. Clark, MD Chair in Pediatric Research at the University of Utah and is a member of the Primary Children’s Hospital (PCH) Pediatric Cancer Program, funded by the Intermountain Healthcare Foundation and the Primary Children’s Hospital Foundation. MD would like to thank her collaborators Grant Wood, Jeff Greenberg, Ingrid Winship, Ed Conley, and Marie Wood from the Family History Task Team of the Global Alliance for Genomics in Health (GA4GH) for their work on the first iteration of the GA4GH Family History Tool Inventory and for the GA4GH for its ongoing support of a living family history tool inventory. Finally, a special thanks to Mary Johnston for the manuscript editing.
Compliance with Ethical Standards
Conflicts of Interest
BM, HM, and JS are founders and shareholders of ItRunsInMyFamily, Inc.
MD, during her time at Cleveland Clinic, was a co-inventor of the MyFamily (now called MyLegacy) intellectual property portfolio. The IP is licensed to Family Care Path, Inc. As part of this license, MD is entitled to a share in both royalties and returns on equity.
KW, RA, KB, and CH declare that they have no conflict of interest.
Human Studies and Informed Consent
No human studies were carried out by the authors for this article.
No animal studies were carried out by the authors for this article.
- Baumgart, L. A., Vogel, K. J., Modi, M., Hulick, P. J., Cohn, W. F., & Knaus, W. A. (2013). Symposium conducted at the meeting of American Medical Informatics Association. In J. H. Holmes, PhD (Chair) (Ed.), AMIA 2013 Annual Symposium. Washington, DC.Google Scholar
- Baumgart, L. A., Postula, K. J. V., & Knaus, W. A. (2015). Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment. Familial Cancer. https://doi.org/10.1007/s10689-015-9863-3.
- Catalogue of Global Activities— Family History Tools.(2018). Retrieved October 3, 2017, from https://www.ga4gh.org/ga4ghtoolkit/genomicdatatoolkitGoogle Scholar
- Cohn, W. F., Ropka, M. E., Pelletier, S. L., Barrett, J. R., Kinzie, M. B., Harrison, M. B., et al. (2010). Health Heritage©, a Web-Based Tool for the Collection and Assessment of Family Health History: Initial User Experience and Analytic Validity. Public Health Genomics, 13(7–8), 477–491.CrossRefPubMedGoogle Scholar
- Edelman, E. A., Lin, B. K., Doksum, T., Drohan, B., Edelson, V., Dolan, S. M., … Scott, J. (2014). Implementation of an electronic genomic and family health history tool in primary prenatal care. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 166C(1), 34–44.Google Scholar
- Feero, W. G., Bigley, M. B., Brinner, K. M., & Family Health History Multi-Stakeholder Workgroup of the American Health Information Community. (2008). 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. Journal of the American Medical Informatics Association: JAMIA, 15(6), 723–728.CrossRefPubMedPubMedCentralGoogle Scholar
- Feero, W. G., Facio, F. M., Glogowski, E. A., Hampel, H. L., Stopfer, J. E., Eidem, H., et al. (2015). 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: Official Journal of the American College of Medical Genetics, 17(9), 753–756.CrossRefGoogle Scholar
- FHH. (n.d.). Github. Retrieved from https://github.com/CBIIT/FHH.
- Giovanni, M. A., & Murray, M. F. (2010). The application of computer-based tools in obtaining the genetic family history. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [et Al.], SUPPL. 66, 9.21.1–9.21.9.Google Scholar
- Health Level 7 Clinical Genomics Work Group. (2013). HL7 Version 3 Implementation Guide: Family History/Pedigree Interoperability (version release 1). Ann Arbor: Health Level &. Retrieved from http://www.hl7.org/implement/standards/product_brief.cfm?product_id=301.
- Hulse, N. C., Taylor, D. P., Wood, G., & Haug, P. J. (2008). Analysis of family health history data collection patterns in consumer-oriented Web-based tools. Washington, DC.: American Medical Informatics Association Annual Symposium.Google Scholar
- Hulse, N. C., Ranade-Kharkar, P., Post, H., Wood, G. M., Williams, M. S., & Haug, P. J. (2011). Development and early usage patterns of a consumer-facing family health history tool. AMIA … Annual Symposium Proceedings / AMIA Symposium. AMIA Symposium, 2011, 578–587.Google Scholar
- Murff, H. J. (2009). Accuracy of family history information for risk assessment in clinical care. Bethesda: In Family History and Improving Health, NIH State-of-the-Science Conference.Google Scholar
- Orlando, L. A., Buchanan, A. H., Hahn, S. E., Christianson, C. A., Powell, K. P., Skinner, C. S., et al. (2013). Development and validation of a primary care-based family health history and decision support program (MeTree). NC Med J, 74(4), 287–296.Google Scholar
- Orlando, L. A., Wu, R. R., Myers, R. A., Buchanan, A. H., Henrich, V. C., Hauser, E. R., & Ginsburg, G. S. (2016). Clinical utility of a Web-enabled risk-assessment and clinical decision support program. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 18(10), 1020–1028.CrossRefGoogle Scholar
- Orlando, L. A., Buchanan, A. H., Hahn, S. E., Christianson, C. A., Powell, K. P., Skinner, C. S., … Henrich, V. C. (n.d.). Development and validation of a primary care-based family health history and decision support program (MeTree). North Carolina Medical Journal, 74(4), 287–296.Google Scholar
- Ozanne, E. M., O’Connell, A., Bouzan, C., Bosinoff, P., Rourke, T., Dowd, D., … Hughes, K. S. (2012). Bias in the reporting of family history: implications for clinical care. Journal of Genetic Counseling, 21(4), 547–556.Google Scholar
- Ozanne, E. M., Loberg, A., Hughes, S., Lawrence, C., Drohan, B., Semine, A., … Hughes, K. S. (n.d.). Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. The Breast Journal, 15(2), 155–162.Google Scholar
- Powell, K. P., Christianson, C. A., Hahn, S. E., Dave, G., Evans, L. R., Blanton, S. H., … Henrich, V. C. (2013). Collection of family health history for assessment of chronic disease risk in primary care. North Carolina Medical Journal, 74(4), 279–286.Google Scholar
- Pritzlaff, M., Yorczyk, A., Robinson, L. S., Pirzadeh-Miller, S., Lin, T., Euhus, D., & Ross, T. S. (2014). An internal performance assessment of CancerGene Connect: an electronic tool to streamline, measure and improve the genetic counseling process. Journal of Genetic Counseling, 23(6), 1034–1044.CrossRefPubMedPubMedCentralGoogle Scholar
- Qureshi, N., Wilson, B., Santaguida, P., Little, J., Carroll, J., Allanson, J., & Raina, P. (2009). Family history and improving health. Evidence Report/Technology Assessment, 186, 1–135.Google Scholar
- Rolnick, S. J., Rahm, A. K., Jackson, J. M., Nekhlyudov, L., Goddard, K. A. B., Field, T., … Valdez, R. (2011). Barriers in identification and referral to genetic counseling for familial cancer risk: the perspective of genetic service providers. Journal of Genetic Counseling, 20(3), 314–322.Google Scholar
- Rubinstein, W. S., Acheson, L. S., O’Neill, S. M., Ruffin, M. T., Wang, C., Beaumont, J. L., & Rothrock, N. (2011). Clinical utility of family history for cancer screening and referral in primary care: a report from the Family Healthware Impact Trial. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 13(11), 956–965.CrossRefGoogle Scholar
- Taylor, D. P., Taylor, D. P., Hulse, N. C., Hulse, N. C., Wood, G. M., Haug, P. J., & Williams, M. S. (2008). Ideal features for a patient-entered family history and risk assessment tool. Washington, DC.: American Medical Informatics Association Annual Symposium.Google Scholar
- Tehranifar, P., Wu, H.-C., Shriver, T., Cloud, A. J., & Terry, M. B. (2015). Validation of family cancer history data in high-risk families: the influence of cancer site, ethnicity, kinship degree, and multiple family reporters. American Journal of Epidemiology, 181(3), 204–212.CrossRefPubMedPubMedCentralGoogle Scholar
- The NIH Family Health History Tool Conference. (2016). Retrieved October 3, 2017, from https://www.genome.gov/27565264/the-nih-family-health-history-tool-conference-2016/.
- Wang, C., Bickmore, T., Bowen, D. J., Norkunas, T., Campion, M., Cabral, H., et al. (2015). Acceptability and feasibility of a virtual counselor (VICKY) to collect family health histories. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 17(10), 822–830.CrossRefGoogle Scholar
- Welch, B. M., O’Connell, N., & Schiffman, J. D. (2015b). 10 years later: Assessing the impact of public health efforts on the collection of family health history. American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.37139.
- Welch, B. M., O’Connell, N. S., Qanungo, S., Halbert-Hughes, C., & Schiffman, J. D. (2015c). Collecting family health history using an online social network: A Nationwide survey among potential users. AMIA ... Annual Symposium Proceedings / AMIA Symposium. AMIA Symposium, 2015, 1316–1325.PubMedGoogle Scholar
- Wood, M. E., Kadlubek, P., Pham, T. H., Wollins, D. S., Lu, K. H., Weitzel, J. N., et al. (2014). Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 32(8), 824–829.CrossRefGoogle Scholar
- Yoon, P. W., Scheuner, M. T., Jorgensen, C., & Khoury, M. J. (2009). Developing family Healthware, a family history screening tool to prevent common chronic diseases. Preventing Chronic Disease, 6(1), 1–11.Google Scholar