Family history has been used by generations of family physicians during clinical encounters in emergency departments, intensive care units, and primary care offices. As a clinical tool, it can shape the differential diagnosis, uncover patient fears, and identify those at risk of classic genetic disorders. Over the past five years, family history has garnered increased attention as a means to help stratify a person's risk of developing common conditions such as diabetes mellitus, heart disease, and cancer. Family history captures important risk information arising from genetic and shared environmental factors, and is incorporated into many existing guidelines—including those of the U.S. Preventive Services Task Force (USPSTF)—for managing risk of common conditions. Many in the public health and genetics community advocate increased use of family history in health care.1,2
Several federal initiatives exist to promote and better understand the collection and use of family history information. The most notable is the ongoing U.S. Surgeon General's Family History Initiative (http://www.genome.gov/17516481). This initiative includes dissemination of a Web-based tool developed by the National Institutes of Health (NIH) for the systematic collection of personal family history information (http://www.familyhistory.hhs.gov).
NIH State-of-the-Science conferences provide an objective, independent assessment of what is and is not known about a medical topic (for a list of upcoming and recent conferences, go to http://consensus.nih.gov/). From August 24 to 26, 2009, the NIH hosted a State-of-the-Science conference on Family History and Improving Health to better define the evidence base supporting the use of family history as a screening tool for common conditions in primary care settings. Alfred O. Berg, MD, a family physician and former chair of the USPSTF, chaired the panel for the conference, which addressed six questions (see accompanying table) about screening family history for asthma and allergies (atopic disease); diabetes; major depression and mood disorders; stroke; cardiovascular disease; and five common cancers (breast, ovarian, colorectal, prostate, and lung).3 The panel statement,3 evidence review,4 and Web cast of the entire conference can be found online (http://consensus.nih.gov/2009/familyhistory.htm).
|What are the key elements of a family history in a primary care setting for the purposes of risk assessment for common diseases?|
|What is the accuracy of the family history, and under what conditions does the accuracy vary?|
|What is the direct evidence that getting a family history will improve health outcomes for the patient or family?|
|What is the direct evidence that getting a family history will result in adverse outcomes for the patient or family?|
|What are the factors that encourage or discourage obtaining and using a family history?|
|What are future research directions for assessing the value of family history for common diseases in the primary care setting?|
The bottom line from the conference is there is little direct evidence that using family history to screen for risk of common complex diseases in primary care settings improves health outcomes. However, this finding does not mean that evidence was found to suggest that taking a family history is without value. Rather, well-designed trials measuring patient-oriented outcomes in primary care settings are extremely rare: of more than 30,000 manuscripts reviewed for the conference, only two (both related to breast cancer) directly addressed health outcomes following screening with a family history.4 There is an equal paucity of evidence suggesting that the use of family history as a screening tool in primary care is harmful.
An important outcome of the conference was the panel's elaboration of 25 research priorities for the use of family history in primary care.3 These were grouped into three areas: structure or characteristics of a family history; the process of acquiring a family history; and outcomes of family history acquisition, interpretation, and application. The list of priorities provides a comprehensive, if somewhat daunting, blueprint for future family history research.
There is a long legacy of family history use in primary care for multiple purposes; in fact, family—in the biologic and social sense—forms the basis of the family medicine specialty. Collection of family history remains the standard of care in prenatal and preconception settings, and is potentially life saving for conditions such as the hereditary cancer syndromes. In the wake of this conference, family physicians should not change their daily practice; sound clinical judgment, individualized to the patient, should be used to determine the extent of family history collection.