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Many common diseases have genetic, environmental, and lifestyle causes that family members may share. An individual’s family health history captures information about shared factors that contribute to that individual’s risk for developing diseases such as diabetes, stroke, cancer, and heart disease. Family health history information collected from patients has long been used as a risk assessment tool by health care providers in the United States. Family history is also critical to determining who will benefit from genetic testing for both common and rare conditions, and can facilitate interpretation of genetic test results. The combination of these attributes makes the collection of family history an important first step in personalized medicine.
Recently there have been a number of national efforts to ensure that family history information is effectively incorporated into health information technology systems including electronic health records and personal health record systems. An ultimate goal of these efforts will be to provide clinicians with automated clinical decision tools based on family history information; this will require a sound scientific foundation on which to develop such tools.
Although most individuals are accustomed to providing some form of family history information when they visit health professionals, there is wide variation in the way family history is collected and used by health care providers. Moreover, the accuracy of a patient-gathered history may be limited by an individual’s awareness, understanding, and recollection of their family members’ health issues. Important questions remain regarding the effectiveness of family history information for disease prediction and improvement of patient health outcomes.
There may also be adverse effects for both individuals and society, thus far not fully understood, of depending too heavily on a family history to assess disease risk. It is possible that emphasizing family history may have economic costs as well, as limited resources are allocated across a wide variety of health promotion activities in the primary care setting.
In order to take a closer look at this important topic, the National Human Genome Research Institute and the Office of Medical Applications of Research of the National Institutes of Health will convene a State-of-the-Science conference from August 24 to 26, 2009, to assess the available scientific evidence related to the following questions:
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 and/or family?
What is the direct evidence that getting a family history will result in adverse outcomes for the patient and/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?
At the conference, invited experts will present information pertinent to these questions, and a systematic literature review prepared under contract with the Agency for Healthcare Research and Quality (AHRQ) will be summarized. Conference attendees will have ample time to ask questions and provide statements during open discussion periods. After weighing the scientific evidence, an unbiased, independent panel will prepare and present a consensus statement addressing the key conference questions.