Family History in Primary Care Pediatrics

Abstract

The family history has been called the first genetic test; it was a core element of primary care long before the current wave of genetics technologies and services became clinically relevant. Risk assessment based on family history allows providers to personalize and prioritize health messages, shifts the focus of health care from treatment to prevention, and can empower individuals and families to be stewards of their own health. In a world of rising health care costs, the family history is an important tool, with its primary cost being the clinician’s time. However, a recent National Institutes of Health conference highlighted the lack of substantive evidence to support the clinical utility of family histories. Annual collection of a comprehensive 3-generation family history has been held up as the gold standard for practice. However, interval family histories targeted to symptoms and family histories tailored to a child’s life stage (ie, age-based health) may be important and underappreciated methods of collecting family history that yield clinically actionable data and supplement existing family history information. In this article, we review the various applications, as well as capabilities and limitations, of the family history for primary care providers.