Family History

Family health history has been used in clinical medicine for generations as a proxy for genetic information in efforts to predict disease risk in patients. In contrast to its previous application, in the era of DNA-first genomic medicine, a family health history will increasingly be used to add context to the DNA sequence data. Since every patient will be revealed to have rare genetic changes, so rare that they may only exist within their immediate family, the health history of others in the family who share these changes will be necessary in order to gain insight into how these changes will affect health. It will only be through knowing how these changes played out for the patient’s immediate relatives that we will be able to interpret some sequence variations in the patient who is being seen. It is because of this “interpretative need” that we will ultimately require detailed family health histories that are annotated with DNA sequence variant information.

At the current time, patients can be engaged in the gathering of detailed family health history to maximize the time of busy providers. The US Surgeon General’s My Family Health Portrait (available at provides a web-based tool that allows patients to enter data regarding their own personal medical history as well as that of relatives. This data can be analyzed as a pedigree image or in a table format providing valuable information to care providers. In this interim time, before we arrive at “genomically annotated” family health history tools, we can use such currently available tools to guide disease risk interpretation via classical methodologies.