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COLLECTION INTERPRETATION INTERVENTION

Family History Competencies

published July 2012 modifed 8 August 2012NCHPEG

All rights reserved

Recognize and understand standard pedigree symbols

Produce at least a three-generation family history that:

Identifies Thepatient

Thehistorian,orpersonprovidingtheinformation.Thisper-

sonmaybethepatientorsomeoneelse,suchasaparent.

And Includes

Thepatientandhisorherfirst-,second-,andthird-degree

relatives

Informationformaternalandpaternalsidesofthefamily

Degreeofrelationship,including:fullorhalfsiblings,children

withsameordifferentpartner(s)

Affectedandunaffectedrelatives

Dateofcollection(ordateofupdate),andthenameofcol-

lector(orupdater)

Legendorkey,ifsymbolsareusedtodesignatedisease

Elicit appropriate information for individuals represent-

ed in the family history as required for clinical indica-

tions

Age,birthdate,oryearofbirth

Relevanthealthinformation,includingtestresultsif

applicable

Diagnosisandageatdiagnosis Ageatdeath,oryearsofbirth/death

Causeofdeath

Ancestralbackgroundforeachbiologicalgrandparent

Infertility,ornochildrenbychoice

Pregnancies

Pregnancycomplicationswithgestationalagenoted,includ-

ingmiscarriages,stillbirths,ectopicpregnancies,pregnancy

terminations,pretermbirth,preeclampsia,andbleeding/clot-

tingcomplications

Consanguinity(bloodrelationshipofparents)

Recognize Genetic Red Flags

Familyhistoryofknownorsuspectedgeneticdisorder

Multipleaffectedfamilymemberswithsameorrelateddisor-

ders

Earlierageatonsetofdiseasethanexpected

Intellectualdisabilityordevelopmentaldelays

Diagnosisinless-often-affectedsex

Multifocalorbilateraloccurrenceinpairedorgans

Oneormoremajormalformation(s)

Diseaseintheabsenceofriskfactorsorafterpreventivemea-

sures

Abnormalitiesingrowth(growthretardation,asymmetric

growth,excessivegrowth)

Recurrentpregnancylosses(2+)

Consanguinity(bloodrelationshipofparents)

Ethnicpredispositiontocertaingeneticdisorder

Recognize basic inheritance patterns

Multi-factorial(complex)disorders

Single-genedisorders:autosomaldominant,autosomal

recessive,X-linked

Chromosomaldisorders:extraormissingchromosomes;

large-scaledeletions;translocations

Mitochondrial

Recognize family histories that require additional inter-

pretation

Missinginformationvs.unaffectedrelatives

Reliabilityofinformation

Non-traditionalfamilies

Unknownpaternity

Adoption

Culturaldefinitionsoffamily

Culturalbiases

Consanguinity

Confidentiality

Identify where more specific information is needed and

obtain records

Assessgeneralrisks

Knowwhentorefertogeneticsprofessionals

Encouragethepatienttotalktootherfamilymembers

Updatepedigreeatsubsequentvisits

View complete Core Principles in Family

History and other family history tools at

www.nchpeg.org

Risk Assessment Toolkit