Skip to Main Content

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.

Houwink  EJF  et al. Genetics in primary care: validating a tool to pre-symptomatically assess common disease risk using an Australian questionnaire on family history. Clin Transl Med. 2019;8:17.
[PubMed: 31044318]  
Li  W  et al. Obtaining a genetic family history using computer-based tools. Curr Protoc Hum Genet. 2019;100:e72.
[PubMed: 30335217]  
Pyeritz  RE. The family history: the first genetic test, and still useful after all those years? Genet Med. 2012;14:3.
[PubMed: 22237427]  

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.