Pediatric Genetics

Family History: Practical Considerations for Pediatric Primary Care Clinicians

Family history is a traditional tool for diagnosing and identifying risk for genetic disorders. It is also being used more commonly to assess risk for complex common conditions for which the genetic cause is unknown, such as heart disease and diabetes.
Family history can inform decisions about screening, patient education, and other preventive health measures.
It helps physicians build rapport with patients and their families, understand relationships within families, and identify shared environments and behaviors that might put a patient at higher risk for disease.
It can also help identify inheritance patterns and correct mistaken beliefs—for instance, that a disease affects only one gender or skips a generation.
Family history is an essential part of a complete physical exam visit for a child.

Use frequent well-child exams to complete and update family history information. (If a patient comes in for all recommended well-child exams, the clinician will see the patient 10 times in the first 2 years of life.)
Several tools can help with collecting family histories. Choose the ones that work best, and introduce families to those tools during their first visit.
- Find a summary of tools from the National Coalition for Health Professional Education in Genetics.
- The March of Dimes has a preconception/prenatal questionnaire.
- Families can create a simple pedigree with the Surgeon General’s My Family Health Portrait.
Add family history links to the office or clinic website. Ask parents to gather information before they come for an office visit. Information collected at home can help guide the visit.
Provide handouts with resources for collecting family medical history. Print fact sheets from the Web.
Post reminders or create slogans for clinicians and families, such as “5 minutes for family history” or “Don’t forget family history.”
Involve children by using a computer.
Involve parents by getting a maternal prenatal family history.
Encourage families to collect medical history information at family gatherings.
Publicize Thanksgiving Day as Family History Day.
Review and update family history every year.

The main barrier to collecting a complete family history is time. Fortunately, pediatric clinicians see their patients often, so there are many chances to gather this information. More detail can be added over multiple visits.
Busy parents might not want to take time to find out more about their family’s health history. Other parents might be reluctant to seek out this information if it will bring back memories of loss, illness, or broken relationships. Clearly explaining how family history can benefit the child’s health and addressing the family’s concerns might help in getting complete and reliable information.
A child might have several caregivers, without a single adult being in charge of health care. Becoming an active partner with parents and other caregivers will help overcome this barrier.