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Family Life

It is important for parents to learn as much as they can about their family health history in order to have a complete record for your child throughout his or her life.

Family Health History Plays a Major Role In:

  • Identifying family and hereditary disorders
  • Determining inheritance patterns and recurrence risks for known and suspected genetic disorders
  • Identifying those at risk for a genetic disorder
  • Identifying those not at risk for a genetic disorder
  • Providing information necessary for appropriate genetic counseling
  • Providing an important adjunct to patient management of all childhood diseases, such as growth problems and asthma

Ideally a family history is recorded at your child first visit to the pediatrician, as well as a mother’s first prenatal visit. A family history should also be updated yearly with each well-child visit.

Questions Your Pediatrician May Ask About Family History:

  • Are there any health problems that are known to run in your family, or that close relatives have been told are genetic? If so, what are these conditions?
  • Is there anyone in the family who had cancer, heart disease, or other adult-onset health problem at an early age, such as between 20 and 50?
  • Does/did anyone in the family have intellectual disability, learning problems, or have to go to a special school?
  • Have there been any early deaths in the family, including stillbirths, infant deaths, multiple miscarriages, or shortened life span?
  • Have any relatives had extreme or unexpected reactions to medications or therapy?

Ethnic and Racial Factors

Racial and ethnic origins of the child and family are important to note in a family history, because certain geographic, ethnic, and racial groups may be at relatively high risk for otherwise rare genetic disorders. The table below lists examples of several major ethnic and racial groups and associated genetic disorders.

Racial or Ethnic Group Genetic Disorder
​African American

​Sickle cell disease

Glucose-6-phosphate dehydrogenase deficiency


​Maple syrup urine disease

Chondroectodermal dysplasia

(Ellis-van Creveld syndrome)

Cartilage-hair hypoplasia

McKusick-Kaufman syndrome

Limb girdle muscular dystrophy

Glutaric aciduria type I

​Ashkenazi Jewish

​Tay-Sachs disease

Canavan disease

Gaucher disease type 1

Hereditary breast/ovarian cancer

Sensorineural deafness

Familial dysautonomia

Mucolipidosis type IV

Niemann-Pick disease type A


​Hereditary nephrosis

Caartilage-hair hypoplasia

Infantile neuronal ceroid lipofuscinosis

Mullibrey nanism

​French Canadian

​Leigh syndrome, French-Canadian type

Hereditary multiple intestinal atresias

Tyrosinemia type I

Tay-Sachs disease


Pseudo-vitamin D deficiency rickets

​Mediterranean (Italian, Greek, North African) ​


Glucose-6-phosphate dehydrogenase deficiency

Sickle cell disease

​Middle Eastern
Familial Mediterranean fever
​Machado-Joseph disease
​Puerto Rican
​Hermansky-Pudlak syndrome
​Southeast Asian



Barriers to Collecting a Family History

According to a survey by the Centers for Disease Control and Prevention, although 96.3% of Americans considered knowledge of family history important to their personal health, only about 30% have ever tried to actively gather and organize their families’ health histories.

Barriers for families to collecting a family history include:

  • Lack of time
  • Incomplete records
  • Inaccessible family members
  • Adoption
  • Incorrect or vague diagnoses
  • Denial or guilt
  • Family members not talking to each other
  • Blame
  • Multiple family members who care for a child
  • Fear of discrimination and stigmatization

Additional Resources


Last Updated
Adapted from Medical Genetics in Primary Practice (Copyright © 2013 American Academy of Pediatrics)
The information contained on this Web site should not be used as a substitute for the medical care and advice of your pediatrician. There may be variations in treatment that your pediatrician may recommend based on individual facts and circumstances.