TY - CHAP M1 - Book, Section TI - Family History & Pedigree Analysis A1 - Pyeritz, Reed E. A2 - Papadakis, Maxine A. A2 - McPhee, Stephen J. A2 - Rabow, Michael W. A2 - McQuaid, Kenneth R. Y1 - 2022 N1 - T2 - Current Medical Diagnosis & Treatment 2022 AB - The first step in considering how important genetic factors might be in the clinical situation of a patient is obtaining a detailed family history. At a minimum, a patient should be queried in detail about all first-degree relatives—parents, siblings, and offspring—(age, sex, health status if alive, including major illnesses; cause of death) and more distant relatives with reference to the particular condition at issue. Ethnicity of both sides of the family should be noted; any disorders known to be especially prevalent in a particular ethnic group should be asked about specifically. Once the family history is obtained, it should be analyzed; medical geneticists and genetic counselors are trained in this task and are particularly valuable when the busy clinician has neither the time nor the staff to pursue the information. A pedigree diagram (eg, eFigure 40–3) with the symbols filled in to indicate the presence of a condition can be instructive in suggesting a mode of inheritance. Once targeted genetic testing of the proband produces a result, the diagram also proves useful in identifying relatives who might benefit from counseling about similar testing. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1184181609 ER -