Family History Competencies

Risk Assessment Toolkit

INTERPRETATION Recognize Genetic Red Flags
Family history of known or suspected genetic disorder Multiple affected family members with same or related disorders Earlier age at onset of disease than expected Intellectual disability or developmental delays Diagnosis in less-often-affected sex Multifocal or bilateral occurrence in paired organs One or more major malformation(s) Disease in the absence of risk factors or after preventive measures Abnormalities in growth (growth retardation, asymmetric growth, excessive growth) Recurrent pregnancy losses (2+) Consanguinity (blood relationship of parents) Ethnic predisposition to certain genetic disorder Multi-factorial (complex) disorders Single-gene disorders: autosomal dominant, autosomal recessive, X-linked Chromosomal disorders: extra or missing chromosomes; large-scale deletions; translocations Mitochondrial

COLLECTION Recognize and understand standard pedigree symbols Produce at least a three-generation family history that: Identifies
The patient The historian, or person providing the information. This person may be the patient or someone else, such as a parent.

INTERVENTION Identify where more specific information is needed and obtain records
Assess general risks Know when to refer to genetics professionals Encourage the patient to talk to other family members Update pedigree at subsequent visits

And Includes
relatives

The patient and his or her first-, second-, and third-degree Information for maternal and paternal sides of the family Degree of relationship, including: full or half siblings, children with same or different partner(s) Affected and unaffected relatives Date of collection (or date of update), and the name of collector (or updater) Legend or key, if symbols are used to designate disease

Elicit appropriate information for individuals represented in the family history as required for clinical indications
Age, birth date, or year of birth Relevant health information, including test results if applicable Diagnosis and age at diagnosis Age at death, or years of birth/death Cause of death Ancestral background for each biological grandparent Infertility, or no children by choice Pregnancies Pregnancy complications with gestational age noted, including miscarriages, stillbirths, ectopic pregnancies, pregnancy terminations, preterm birth, preeclampsia, and bleeding/clotting complications Consanguinity (blood relationship of parents)

Recognize basic inheritance patterns

Recognize family histories that require additional interpretation

Missing information vs. unaffected relatives Reliability of information Non-traditional families Unknown paternity Adoption Cultural definitions of family Cultural biases Consanguinity Confidentiality View complete Core Principles in Family History and other family history tools at www.nchpeg.org
published July 2012 modified 8 August 2012 NCHPEG All rights reserved