Start with what runs in the family
A family health history records the diseases, disorders, and medical conditions that have affected your relatives. It can help a clinician assess inherited risk, decide whether earlier screening makes sense, and identify conditions caused by a mix of genetic and environmental factors.
How clinicians use family history
Clinicians use family history to assess the risk of various medical conditions, including cancers (like breast and colon cancer), coronary artery disease, type 2 diabetes mellitus, depression, thrombophilias, and adverse birth outcomes. Certain conditions are more prevalent within families due to genetic predispositions or shared environmental factors. Collecting accurate and updated family history information enables healthcare providers to stratify risk levels and tailor preventive or diagnostic strategies accordingly.
Tools for collecting family health history
Two common tools can help you gather the information:
Family health history as a screening tool
The U.S. Surgeon General's Family History Initiative helped bring family history into routine preventive care. Pedigrees and questionnaires can reveal high-risk patients whose risk may not be obvious in a standard medical record.
Reproductive planning and family health history
The preconception period is ideal for evaluating family health history, as it allows for risk assessment and genetic counseling. Women planning pregnancy should discuss their family medical history with healthcare providers to identify any inherited risks. Early assessment may prompt lifestyle changes or specific interventions, such as carrier screening for genetic conditions.
When information is missing
Adopted individuals or those with limited family history may face challenges in risk assessment. In such cases, healthcare providers should exercise caution and consider a lower threshold for further evaluation. Regular updates to family history records are essential, especially when new diagnoses occur within the family.
Keep the record current
Family health history can inform care for inherited and multifactorial conditions. Use a consistent collection method, update the record when a relative receives a new diagnosis, and share the relevant details with your clinician.
References
- Yoon P, Scheuner M. The family history public health initiative. In: Centers for Disease Control and Prevention. Genomics and population health: United States 2003. Atlanta (GA): CDC; 2004. p. 39–45.
- Rich EC, Burke W, Heaton CJ, Haga S, Pinsky L, Short MP, et al. Reconsidering the family history in primary care. J Gen Intern Med 2004;19: 273–80.
- Bennett RL. The practical guide to the genetic family history. 2nd ed. Hoboken (NJ): Wiley-Blackwell; 2010.
- Plunkett KS, Simpson JL. A general approach to genetic counseling. Obstet Gynecol Clin North Am 2002; 29: 265–76.
- Scheuner MT, Wang SJ, Raffel LJ, Larabell SK, Rotter JI. Family history: a comprehensive genetic risk assessment method for the chronic conditions of adulthood. Am J Med Genet 1997;71: 315–24.
- Fuchs CS, Giovannucci EL, Colditz GA, Hunter DJ, Speizer FE, Willett WC. A prospective study of family history and the risk of colorectal cancer. N Engl J Med 1994; 331: 1669–74.
- Frezzo TM, Rubinstein WS, Dunham D, Ormond KE. The genetic family history as a risk assessment tool in internal medicine. Genet Med 2003; 5: 84–91.
- Dolan SM, Moore C. Linking family history in obstetric and pediatric care: assessing risk for genetic disease and birth defects. Pediatrics 2007; 120(suppl 2):S66–70.
Frequently Asked Questions
A pedigree is a visual representation of at least three generations of a family, using standardized symbols to mark affected individuals. Commonly used by genetics professionals, it helps identify inheritance patterns, detect people at increased risk of a specific condition, and document age, cause of death, and relevant genetic testing results.