Key Points

• Family history is the best general tool for assessing a patient's risk for heritable conditions.

• Numerous guidelines relevant to primary care providers incorporate family history information.

• Evidence-based reviews have found that family history obtained from patients is generally accurate.

• Patient-completed web-based tools offer a convenient way to gather family history information.

Family history is arguably the single best tool for recognizing genetic components of disease in the primary care setting. In the context of single-gene disorders, family history has proved valuable for generations of clinicians and plays a major role in making a diagnosis and identifying at-risk individuals. Family physicians should be familiar with common patterns of inheritance of single-gene disorders, including X-linked recessive, X-linked dominant, autosomal dominant, autosomal recessive, and multifactorial/complex (Table 44-2). Classically, the three-generation genetic history known as a pedigree or genogram has been taught as the "gold standard" of family history collection. Certainly, once a potential genetic issue has been identified, a family physician should be comfortable in collecting and accurately representing a complete family history. However, taking a complete family history can be time-consuming, and on a practical level, it is not always possible to collect in the context of a brief office visit. It is perfectly reasonable to gather, review, and update family history longitudinally.

Common diseases such as type 2 diabetes, coronary artery disease, and cancer also cluster in families. Family history captures both hereditary and environmental risks and is an important component of many validated risk algorithms for these and other conditions. Recent attention has focused on the systematic collection of family history as a screening tool in primary care settings. Family history information supplied by patients is generally fairly accurate for a wide range of conditions. However, few well-designed trials have examined health outcomes associated with use of family history as a screening tool (NIH Consensus Development Program, 2009).

Given competing demands on family physicians' time and resources, what genetic family history is the most important to capture? A national collaboration of primary care and genetics professionals has developed mnemonics to help clinicians think genetically as they provide patient care (Burke et al., 2001). FamilyGENES highlights "red flags" that signal a genetic concern, as follows (Whelan et al., 2004):

• Family history—multiple affected siblings or individuals in multiple generations

• Groups of congenital anomalies

• Extreme (or exceptional) presentation of common conditions

• Neurodevelopmental delay or degeneration

• Extreme or exceptional pathology

• Surprising laboratory values

SCREEN (for familial disease) uses the following set of family history questions to uncover genetic implications:

• Some Concerns: Do you have any (some) concerns about diseases or conditions that seem to run in the family?

Table 44-2 Patterns of Inheritance Often Encountered in Primary Care

• .Reproduction: Have there been any problems with pregnancy, infertility, or birth defects in your family?

• Early disease, death, or disability: "Have any members of your family died or become sick at an early age?

• Ethnicity: How would you describe your ethnicity? or Where were your grandparents born?

• Nongenetic: Are there any other risk factors or nonmedi-cal conditions that run in your family?

Electronic health record (EHR) systems seldom offer efficient and complete ways to collect and represent family history information. National efforts are underway to address this deficiency. Patient-completed paper and electronic tools provide another way to obtain a detailed genetic history. The U.S. Surgeon General's Family History Initiative (2005) includes a web-based tool that can be completed by patients, stored on their local computer, and shared with relatives and their health care providers in pedigree or table format (My Family Health Portrait; This free, easy-to-use tool is an excellent way for patients with Internet access to record family history and is time-saving for the clinician. The family history collected by the tool is now stored using emerging data standards that allow the data to be shared with EHR and personal health record systems. Alternatively, a number of organizations have created paper family history tools for patients and providers that are available on the Internet.

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