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Family History Gets An Update

Greg Feero, MD, PhD, Maine-Dartmouth Family Medicine Residency Program

Family history has been integral to family medicine since the inception of the field. It can provide context to a clinical encounter, formulate the differential diagnosis for a symptomatic patient, and guide the delivery of screening and prevention services. Recently there has been a flurry of activity regarding family history at the national level.

At a very practical level, a new version of the US Surgeon General’s My Family Health Portrait (MFHP) was released in 2009. This tool allows patients to collect a complete family history in the comfort of their home—and improves on the old tool in that it stores the family history in a structured and standards-based format. These changes allow compatible electronic health record (EHR) and personal health record (PHR) systems to import the data. In the near future, tool users may elect to store their family history data with third party “Connectivity Partners” (like Microsoft HealthVault) securely over the Internet. Storing the information in this manner will allow the individuals and their health care providers secure access to their family history from any Internet-connected computer. Access to this data should enable family physicians to more effectively tailor care to the individual’s health risks.

Advances in the US Surgeon General’s tool have been facilitated by something that many family physicians consider mundane—development of better national standards for family history data in electronic health record systems. These standards have been adopted by organizations that drive the development of new capabilities for EHRs and PHRs in the United States. This is critically important to ensuring that family history is not lost as family physicians adopt new EHR systems in preparation for the changes in reimbursement by Centers for Medicare and Medicaid Services (CMS).

The evidence base supporting the use of family history as a screening tool in primary care settings has been examined over the last year, and several STFM members have been active participants. In August 2009 the National Institutes of Health sponsored a State of the Science conference “Family History and Improving Health” that was designed to develop research priorities regarding the use of family history as a screening tool in primary care. The major conclusion of the conference was that there is a lot of research yet to be done! Very few well-done and recent research studies have addressed whether using family history as a screening tool improves health outcomes. Importantly, evidence was reported at the conference that family history of common serious conditions obtained from patients is reasonably accurate.

Looking ahead, family history information is likely to be increasingly used as part of the assessment of risk prior to initiating screening for common conditions. For example, appropriate use of several USPSTF guidelines, including those for breast and colorectal cancer screening, are predicated on health care providers obtaining a family history and making an accurate determination of a patient’s risk. In the future, automated health information technology systems will use patient information, including family history, clinical characteristics, and lab values (perhaps including genetic risk markers) to generate more predictive risk estimates and to provide point-of-care clinical decision support.

We are in an exciting and challenging time in biomedicine where new and sophisticated technologies for patient care are coming in and out of style at a blinding pace. Family physicians should be comforted by the fact that family history is here for the long haul.

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