The Application of Computer‐Based Tools in Obtaining the Genetic Family History

Monica A. Giovanni1, Michael F. Murray1

1 Brigham and Women's Hospital, Boston, Massachusetts
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 9.21
DOI:  10.1002/0471142905.hg0921s66
Online Posting Date:  July, 2010
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Family health history is both an adjunct to and a focus of current genetic research, having long been known to be a powerful predictor of individual disease risk. As such, it has been primarily used as a proxy for genetic information. Over the past decade, new roles for family history have emerged, perhaps most importantly as a primary tool for guiding decision‐making on the use of expensive genetic testing. The collection of family history information is an important but time‐consuming process. Efforts to engage the patient or research subject in preliminary data collection have the potential to improve data accuracy and allow clinicians and researchers more time for analytic tasks. The U.S. Surgeon General, the Centers for Disease Control and Prevention (CDC), and others have developed tools for electronic family history collection. This unit describes the utility of the Web‐based My Family Health Portrait ( as the prototype for patient‐entered family history. Curr. Protoc. Hum. Genet. 66:9.21.1‐9.21.9 © 2010 by John Wiley & Sons, Inc.

Keywords: family history; pedigree; risk assessment; genetic medicine

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Table of Contents

  • Introduction
  • Use of My Family Health Portrait by the Patient
  • Commentary
  • Literature Cited
  • Figures
  • Tables
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Literature Cited

   Acheson, L.S., Wiesner, G.L., Zyzanski, S.J., Goodwin, M.A., and Stange, K.C. 2000. Family history‐taking in community family practice: Implications for genetic screening. Genet. Med. 2:180‐185.
   Bensen, J.T., Liese, A.D., Rushing, J.T., Folsom, A.R., Rich, S.S., and Higgins, M. 1999. Accuracy of proband reported family history: The NHLBI family heart study. Genet. Epidemiol. 17:141‐150.
   Centers for Disease Control and Prevention (CDC). 2004. Awareness of family health history as a risk factor for disease—United States. MMWR Morb. Mortal. Wkly. Rep. 53:1044‐1047.
   Collins, F. 1997. Preparing health professionals for the genetic revolution. JAMA 287:1285‐1286.
   Guttmacher, A.E., Collins, F.S., and Carmona, R.H. 2004. The family history: More important than ever. N. Engl. J. Med. 351:2333‐2336.
   Parmigiani, G., Berry, D., and Aguilar, O. 1998. Determining carrier probabilities for breast cancer‐susceptibility genes BRCA1 and BRCA2. Am. J. Hum. Genet. 62:145‐158.
   Pyertiz, R.E. 1997. Family history and genetic risk factors: Forward to the future. JAMA 278:1284‐1285.
   Rich, E.C., Burke, W., Heaton, C.J., Haga, S., Pinsky, L., Short, M.P., and Acheson, L. 2004. Reconsidering the family history in primary care. J. Gen. Intern. Med. 19:273‐280.
   Scheuner, M.T., Whitworth, W.C., McGruder, H., Yoon, P.W., and Khoury, M.J. 2006. Expanding the definition of a positive family history for early‐onset coronary artery disease. Genet. Med. 8:491‐501.
   Vasen, H.F., Watson, P., Mecklin, J.P., and Lynch, H.T. 1999. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116:1453‐1456.
   Yoon, P.W., Scheuner, M.T., Jorgensen, C., and Khoury, M.J. 2009. Developing family healthware, a family history screening tool to prevent common chronic disease. Prev. Chronic Dis. 6:A33.
Key References
   Guttmacher et al., 2004. See above.
  The authors of this paper highlight that while we are at the dawn of the genomic era, advanced technologies will never replace a properly obtained and analyzed family health history.
   U.S. Preventive Services Task Force. 2005. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann. Intern. Med. 143:355‐361.
  The Preventive Services Task force developed threshold criteria to assist providers in determining which patients should be categorized as high risk and should be considered as candidates for further genetic testing.
Internet Resources
  My Family Health Portrait. A Web‐based tool that allows users to enter, save, print, and share their family health history.
  BWH Family History Page. The Brigham and Women's Hospital conducted a Family History Project, encouraging all employees to utilize My Family Health Portrait as a method for gathering and recording their family health information. The Project succeeded in encouraging one‐third of all employees to gather this information and share it with the healthcare provider. A project report can be found at this Web site.
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