The Benefits of Taking a Medical Family History

A medical or genetic family history documents the biologic relationships and medical histories of a patient and his or her relatives across more than one generation. When these relationships and health information appear in a diagram with standard symbols and terminology, it is called a pedigree (Bennett et al., 2008; Rich et al., 2004). Pedigrees are the preferred way to organize health information and serve as a visual method to recognize patterns of inheritance and potentially shared environmental risk factors; interpretation of a pedigree can help identify individuals who may be at increased risk for various health problems. 

Knowledge of a patient’s family history has long been recognized as beneficial for diagnosis and treatment of relatively uncommon single-gene disorders such as cystic fibrosis, fragile X syndrome, and other disorders inherited in classical Mendelian patterns (Guttmacher et al., 2004). More recently, family history has been shown to be a major risk factor for more common chronic diseases such as cardiovascular disease, diabetes, several cancers, osteoporosis, and asthma (Guttmacher et al., 2004; Yoon et al., 2002). 

Collection and interpretation of family history is increasingly becoming standard of care in general practice. In addition to professional genetic societies, many other professional societies -- the American Academy of Family Physicians, the American College of Obstetricians and Gynecologists, the American Society of Clinical Oncologists, and multiple nursing organizations -- advocate use of family history as an important screening tool and recommend that their members have the knowledge and skills to gather and interpret family history information (Bennett et al., 2008; Jenkins & Calzone, 2007).

In conjunction with traditional medical history, a patient’s family history can:

Inform diagnosis:
Knowledge of family history can promote more rapid diagnosis, streamlined testing, and better long-term management (Guttmacher et al., 2004).

Promote risk assessment:
Medical family history information can be used in combination with other medical risk factors to estimate a patient’s risk of developing a specific condition, to stratify that risk into higher or lower categories and determine if the patient or a relative is an appropriate candidate for genetic testing (Bennett, 2004; Rich et al., 2004).

Prevent, detect, and manage disease:
Based on a patient’s risk, the provider can recommend appropriate screening or interventions to improve the patient’s overall health and possibly prevent the onset of disease.  The emphasis on disease prevention and management based on the family history may also motivate changes in behavior that forestall disease or reduce its adverse affects.

Build rapport with patients:
The process of eliciting a family history provides an excellent opportunity to build a relationship with the patient and to become aware of the patient’s motivations and concerns (Bennett, 2010).  Such information can be beneficial as the provider helps the patient make health-related decisions. Collection and interpretation of a patient’s family history provide teaching opportunities for the patient as well as the healthcare provider.  Eliciting and summarizing family history information can:

  • help the patient understand the condition in question,
  • clarify patient misconceptions,
  • help the patient recognize the inheritance pattern of the disorder,
  • demonstrate variation in disease expression (such as different ages at onset),
  • provide a visual reminder of who in the family is at risk for the condition, and
  • emphasize the need to obtain medical documentation on affected relatives.

(Adapted from Bennett, 2010) 

A number of healthcare providers can be responsible for collecting a patient’s family history, for example, nurses, physician assistants, clinic coordinators, or schedulers.  Providers responsible for collecting a patient’s family history should show a mastery of the core principles included in this document.