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Genet Med. 2012 Jan;14(1):3-9. doi: 10.1038/gim.0b013e3182310bcf. Epub 2011 Oct 7.

The family history: the first genetic test, and still useful after all those years?

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Center for the Integration of Genetic Healthcare Technologies, Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.


The family history has its origins in genealogy and over the past century has become embedded in clinical practice. Its importance in specialized circumstances is unquestioned but largely untested. Moreover, the relevance of the family history to common diseases, especially in an era of genomic markers that convey risk and the emphasis on "personalized medicine," must be given careful scrutiny. Given the time and expertise needed to obtain and interpret the family history, without a clearer sense of clinical validity and utility, its role will likely diminish. The time to perform the requisite investigations is now.

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