Reconsidering the Family History in Primary Care


  • Eugene C. Rich MD,

    Corresponding authorSearch for more papers by this author
  • Wylie Burke MD, PhD,

  • Caryl J. Heaton DO,

  • Susanne Haga PhD,

  • Linda Pinsky MD,

  • M. Priscilla Short MD,

  • Louise Acheson MD, MS

  • Received from the Department of Medicine (ECR), Creighton University, Omaha, Neb; Department of Medical History and Ethics (WB), University of Washington, Seattle, Wash; Department of Family Medicine (CJH), University of Medicine and Dentistry, New Jersey-Robert Wood Johnson Medical School, New Brunswick, NJ; The Center for the Advancement of Genomics (SH), Rockville, Md; Department of Medicine (LP), University of Washington, Seattle, Wash; Office of Biomedical Science and Clinical Research (MPS), American Medical Association, Chicago, Ill; and the Department of Family Medicine (LA), Case Western Reserve University, Cleveland, Ohio.

Address correspondence and reprint requests to Dr. Rich: Creighton University Department of Medicine, 601 N. 30th Street, Ste. 5850, Omaha, NE 68131 (e-mail:


OBJECTIVE:  The purpose of this paper is to review the role of the family history in predictive genetic testing, describe how family history taking is practiced in adult primary care, identify the current barriers to appropriate application of the family history, and outline the requirements for a new family history tool for primary care.

DESIGN:  We reviewed current perspectives on the family history, identifying key references in the medical literature and web-based family history tools through discussions with multiple content experts in clinical genetics, family medicine, and internal medicine. We conducted a Medline query using the search terms family history and primary care to identify references from the past 10 years. To illustrate the usefulness of family history information, we calculated the predictive value of family history and genetic information for familial adenomatous polyposis using current references and standard formulas. We identified paper and web-based family history tools through discussions with content experts. We also conducted a search on the World Wide Web to identify resources for electronic medical record and family history.

RESULTS:  The family history is the most important tool for diagnosis and risk assessment in medical genetics, and promises to serve as a critical element in the use of predictive genetic testing in primary care. Traditional medical education about family history has often been unsophisticated and use of family history in adult primary care has been limited, compounded by multiple substantive barriers. Although there are numerous paper and computer-based aides for taking the family history, none currently meets all the needs of adult primary care.

CONCLUSIONS:  The patient's family history remains a critical element in risk assessment for many conditions, but substantive barriers impede application in primary care practice, and evidence for its contribution to improved health outcomes is limited in this setting. Short of radical changes in reimbursement, new tools will be required to aid primary care physicians in the efficient collection and application of patient family history in the era of genetic testing.