Importance of the Family History in Medical Practice

Among medical specialties, medical genetics is distinctive in that it focuses not only on the patient but also on the entire family. A comprehensive family history is an important first step in the analysis of any disorder, whether or not the disorder is known to be genetic. As the late Barton Childs stated succinctly: “to fail to take a good family history is bad medicine.” Despite the sophisticated cytogenetic, molecular, and genome testing now available to geneticists, an accurate family history (including the family pedigree) still remains a fundamental tool for all physicians and genetic counselors to use for determining the pattern of inheritance of a disorder in the family, forming a differential diagnosis, determining what genetic testing might be needed, and designing an individualized management and treatment plan for their patients. Furthermore, recognizing a familial component to a medical disorder allows the risk in other family members to be estimated so that proper management, prevention, and counseling can be offered to the patient and the family, as we will discuss in many of the chapters to follow.