ABSTRACT
One reason for researching family history is to uncover health risks and disease vulnerabilities. In this chapter we examine information sources used by family historians, such as setting up family trees and, where possible, charting disease occurrence among ancestors with a view to establishing one’s personal probability of inheriting a particular condition or risk factor. Progress in modern medicine, particularly DNA testing, means it is now possible to directly test for specific genes without recourse to genealogical data, although this is unlikely to occur unless there are signs of risk evident from the family tree. Such research is more likely to be fruitful in the case of conditions clearly tied to a specific gene, for example Huntington’s Chorea. However, it is also useful to be generally aware of the presence of conditions that (to some extent) ‘run in families’, or are overrepresented in some cultural groups. Knowledge of these data leads to important ethical and moral issues, including the validity of the tests, the question of whether family members likely to be affected are told and how to manage those people who ‘don’t want to know’.
