Family Health History
A family health history is an inexpensive, non-invasive, and relatively simple yet valuable diagnostic tool within the primary care provider’s arsenal. Historically used to find single-gene disorders, family history has implications for much broader clinical use, including health promotion and risk assessment.
Family members share the same genes, environments, and behaviors. Because of these factors, they often share the same health problems, too. Family history information can provide a full picture of the health of a patient and their family.
importance of Family history in primary care
Most disorders that have a genetic component will not follow classic Mendelian patterns (e.g., autosomal dominant, autosomal recessive, or X-linked). Therefore, providers will have to depend upon other clues, or red flags, to identify potential genetic influences on disease. Understanding these genetic red flags will facilitate the interpretation and assessment of family history information.
Family history information is only as valuable as the accuracy of the information provided and the ease of which it is collected and updated in primary care practice. Below are suggested strategies for collecting this information in a pediatric primary care setting.
Review the attached document for some real-life examples of useful family history information in primary care. Benefits of collecting family health history include:
- Diagnostic tool and guide to testing and evaluation
- Identification of patterns of inheritance
- Resource to provide patient-education
- Prevention tool to identify conditions for which an individual is at-risk that might benefit from lifestyle changes, increased monitoring, or genetic testing
- Improve patient relationships and foster patient-provider rapport:
- Clarify misconceptions
- Recognize inheritance patterns
- Demonstrate variation in disease expression
- Provide visual reminder of who is at risk
- Emphasize the need to obtain medical documentation on affected relatives
Tips for collecting family history information
Recorded family health history information should include the following information:
- Date the information was collected
- Name of person providing information
- Ancestral Background/Ethnicity
- Adoption Status
Family History Information to Collect
A comprehensive family history contains the information below from three generations of biological family members and is constantly evolving, which is why it is important for providers to regularly update the information.
Key Components of a Family History (for each relative):
- Relationship (e.g. full or half sibling, adopted)
- Age or Year of Birth
- Medical Conditions and Age at Diagnosis
- Pregnancies and Any Complications
- Age at Death and Cause of Death (if known)
A new generation is defined by the birth of an individual’s offspring (eg, great-grandparent, grandparent, and parent). Relationships to family members can be defined in terms of degrees:
- First-degree relatives—parents, brothers, sisters, children
- Second-degree relatives—aunts, uncles, nieces, nephews, grandparents, grandchildren
- Third-degree relatives—first cousins
Tips for Communicating Family history information
- Explain why it is important to gather family history information and how it will allow you to provide better care for the patient
- Be aware of sensitive topics. Exert caution and compassion for families in these circumstances. Some examples include:
- Estranged family member
- Death and illness in the family
- Health behaviors, including substance abuse
- Notice clues to potentially inaccurate or missing health information, for example, there are no reported cases of cancer in the family
- If the patient seems doubtful of recalling the exact condition, recommend they communicate with their family to obtain accurate information
- The Genetic Alliance tool - It Runs in the Family - has a handout that may assist patients in collecting complete information on individual family members
- Exercise compassion when discussion the family history:
- Avoid the terms, "positive", "negative", and "uneventful"
- Use the term "condition" instead of "disease"
- Soften your questions with phrases such as, "Is there a possibility of...?"
Updating the Family historyAt the annual health maintenance examination, it is important to update the family history information. This could be as simple as asking about any recent deaths or medical diagnoses in the family.
Death in the family?
Since your last visit, has anyone in the family died? If so, how is this family member related to the child? How old were they when they died? What was the cause of death?
Since your last visit, are there any individuals in the extended family including brothers, sisters, parents, grandparents, aunts, uncles, or cousins of the child who have been born and have or are newly diagnosed with any of the following? If so, list how that individual is related to the child.
- Organ failure (heart failure, kidney failure, liver failure) prior to age 40
- Developmental delay, intellectual disability, autism spectrum disorder
- Multiple miscarriages or stillbirths
- Birth defects (examples: congenital heart disease, spina bifida, extra or missing fingers, club feet)
- Facial features that look different from other family members
- Congenital deafness (born deaf)
- Multiple handicaps
- Known genetic disorder
Pediatric Family History Tools:
Adult Family History Tools
Published: New England Journal of Medicine, November 2004
Authors: Guttmacher AE, Collins FS, Carmona RH
Published: Genetics in Medicine, October 2011
Authors: Pyeritz RE
Published: Genetics in Medicine, April 2002
Authors: Yoon PW, Scheuner MT, Peterson-Oehlke KL, Gwinn M, Faucett A, Khoury MJ
Family history in primary care pediatrics
Published: Pediatrics Supplement, December 2013
Authors: Tarini BA, McInerney JD
Published: Journal of Obstetrics and Gynaecology Canada, July 2010
Authors: Brock JA, Allen VM, Keiser K, Langlois S
Published: Genetics in Medicine, May 2000
Authors: Acheson LS, Wiesner GL, Zyzanski SJ, Goodwin MA, Stange KC
Published: Pediatrics, September 2007
Authors: Trotter TL, Martin HM
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