The family medical history as a tool in preconception consultation

A multigenerational medical family history graphically recorded as a pedigree or family tree is a cost-effective tool in preconception counseling to identify couples at risk to have offspring with inherited disorders and to identify if either partner has a personal risk for a disorder with a genetic etiology. Interpretation of a medical family history can provide risk assessment for reproductive planning and choices, inform a diagnosis to help identify a patient's medical screening needs and clinical management, and build rapport with the patient or couple. The use of standardized pedigree nomenclature is paramount to healthcare delivery as electronic medical records become universal. The trend towards having patients prepare a medical family history in advance of the first clinic visit is a way to empower patients to take charge of their health, and also allow health professionals to spend more focused time in confirming and interpreting family history at the visit instead of constructing family history. This article reviews standardized pedigree symbols, clues to identifying "red flags" in family history (with a focus on preconception genetic counseling), the pedigree as a psychosocial tool, and resources for obtaining a medical family history.