Obtaining Family History

icon of a family treeThe three-generation family history is an important element in diagnosis of a genetic condition, or determine the possibility that one may exist in a family.  It can guide decisions about genetic testing for the patient and at-risk family members.

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Genetic professionals recognize there are a host of definitions for “family”. Furthermore, some individuals may not know their family history for a multitude of reasons including adoption, privacy, estrangement, death, etc.

Creating the family health history includes obtaining relevant medical history of birth family members (first-, second- and sometimes third- degree relatives.  The information is documented in written form or by pedigree.

First-degree relatives of patient: parents, children, siblings and half-siblings

Second-degree relatives of patient: maternal / paternal grandparents, aunts and uncles,  grandchildren

Third-degree relatives of patient: cousins

Indications for a Genetics Referral

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Important Family History Information to Collect

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Preconception & Prenatal

Refer to a prenatal genetic counselor if  family history includes any of the following:

  • Pregnancy loss, still birth, multiple miscarriages or infertility
  • Birth defect(s), autism, developmental delay or intellectual disability
  • Known chromosomal abnormalities or genetic condition(s)
  • Ethnic background associated with a genetic condition
  • Consanguinity (mother and father share a common ancestor)

Pediatric & Adult

Refer to a pediatric/adult genetic counselor if family history includes any of the following:

  • Pregnancy loss, still birth, multiple miscarriages or infertility
  • Birth defect(s), autism, developmental delay or intellectual disability, seizures
  • Neurological disorders, sudden or early onset  progressive vision/hearing loss
  • Sudden or early deaths
  • Known chromosomal abnormalities or genetic condition(s)
  • Ethnic background associated with a genetic condition
  • Consanguinity (mother and father share a common ancestor)

Cancer

Refer to a cancer genetic counselor if the family history includes any of the following:

  • Multiple primary cancer diagnoses in the same individual
  • Multiple affected family members (spanning >1 generation)
  • Early onset cancer
  • Known hereditary cancer predisposition syndrome
  • Ashkenazi Jewish ancestry

Cancer Predisposition Referral Guidelines