Comprehensive family history and targeted family history

Comprehensive vs. targeted family history

Collection of a comprehensive family history is ideal, though often not practical. Healthcare providers should determine the level of detailed information to collect according to each patient and indication.

Comprehensive family history

In a general healthcare setting, providers are encouraged to collect family histories by eliciting general health information about the relatives represented in a patient’s medical family history.  Examples of conditions to ask about are:

  1. Major medical concerns
  2. Chronic medical conditions (something for which medication or therapy is required, for example)
  3. Hospitalizations or major surgeries
  4. Birth defects
  5. Intellectual disability (mental retardation, learning disabilities, or developmental delay)

Targeted family history

A targeted family history includes information about health problems in a patient’s relatives that are related to the specific condition of concern. This type of history is appropriate in a specialized clinical setting or when evaluating a patient for specific concerns.  When evaluating a patient for a specific syndrome, for example, it is beneficial to ask about the presence in relatives of different features associated with that syndrome. A targeted family history is also appropriate if the general family history reveals a possible inherited condition.

Refer to chapter four in The Practical Guide to the Genetic Family History (Bennett, R.L., 2010, New York: Wiley-Liss) for examples of targeted family history information one might gather in cases of specific medical findings.