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Panel assesses evidence for the collection and use of family health history information

Though most Americans are familiar with completing a questionnaire about their family health history when visiting health care providers, an independent panel was convened by the National Institutes of Health this week to critically assess exactly what we know and what we need to learn about how this process relates to improving health. The conference focused on the use of family history in the primary care setting for common diseases such as diabetes, stroke, cancer, and heart disease. Earlier today, the panel released their findings in a statement that is available at <>.

Reporting a positive history of a family disease or condition to a health care provider could prompt a range of next steps, from lifestyle changes including diet and exercise to referral to genetic services or other specialists. The panel perceived a need to approach their assessment from a balanced perspective, appreciating the potential for both benefits and harms of obtaining and acting upon family history information. Their statement recognized the longstanding use and intuitive appeal of this relatively simple and noninvasive tool to try to improve health outcomes for at-risk individuals. The collection of a family history may also foster productive relationships between individuals and their clinicians. At the same time, theoretical harms, such as overtreatment and patient anxiety, should be taken into account. The panel's findings and recommendations were aimed primarily at the research and health professional communities, rather than the public at large, and intended to inform the research agenda rather than influence current clinical practice.

"Given the unprecedented proliferation of genomic information, it is imperative to clarify the role of family history in improving health," said Panel Chair Dr. Alfred O. Berg, a Professor in the Department of Family Medicine at the University of Washington, Seattle. "Additionally, increased emphasis on personalized medicine and electronic health records creates a fascinating opportunity to maximize the value of this information responsibly."

The panel recognized that family history has an important role in the practice of medicine and may motivate positive lifestyle changes, enhance individual empowerment, and influence clinical interventions. The panel found that it is unclear how this information can be effectively gathered and used in the primary care setting for common diseases. Additional research is needed to understand how the routine collection of family history will lead to improved health outcomes. To help address these gaps, the panel outlined several research recommendations in three categories: the family health information to be collected, the optimal way to collect and use it, and the outcomes of this tool for diagnosis and engagement with individuals and family members.

Individuals interested in recording their family's health history can visit <>, a tool provided by the Office of the Surgeon General.

The panel's complete updated draft state-of-the-science statement will be available later today at <>. The conference was sponsored by the NIH Office of Medical Applications of Research and the National Human Genome Research Institute along with other NIH and Department of Health and Human Services components. This conference was conducted under the NIH Consensus Development Program, which convenes conferences to assess the available scientific evidence and develop objective statements on controversial medical issues.

The 16-member conference panel included experts in the fields of family medicine, population health, pediatrics, obstetrics and gynecology, health economics, epidemiology, biostatistics, genetic counseling, medical genetics, nursing, health informatics, endocrinology, behavioral science, ethics, health services and outcomes research, and a public representative. A complete listing of the panel members and their institutional affiliations is included in the draft conference statement. Additional materials, including panel bios, photos, and other related resources, are available at <>. Interviews with panel members can be arranged by contacting Kelli Marciel at 301-496-4819 or e-mail

In addition to the material presented at the conference by speakers and the comments of conference participants presented during discussion periods, the panel considered pertinent research from the published literature and the results of a systematic review of the literature. The systematic review was prepared through the Agency for Healthcare Research and Quality Evidence-based Practice Centers (EPC) program, by the McMaster University Evidence-based Practice Center. The EPCs develop evidence reports and technology assessments based on rigorous, comprehensive syntheses and analyses of the scientific literature, emphasizing explicit and detailed documentation of methods, rationale, and assumptions. The evidence report on family history and improving health is available at <>.


Contact: Kelli Marciel
NIH/National Institutes of Health, Office of Disease Prevention

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