taking a family history
TRANSCRIPT
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Taking a Family
HistoryCara Barnett, MS, LCGCLicensed Certified Genetic Counselor
The Heart Institute, Cincinnati Children’s
September 29, 2021
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Learning objectives
• Understand why family histories are useful
• Recognize and recall proper nomenclature
used to take a family history
• Create a complete family history
• Recognize inheritance pattern in a family
history
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Where have you encountered
family histories in your life?
• Personal genealogy
research
• Medical appointments
• Religious genealogy
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How are family histories
useful in clinical care
settings?
• Quick and accurate visual record of a family
• Put the patient in charge and build rapport
• Suggest an inheritance pattern and identify at-risk family members
• Aid in making a diagnosis
• Reveal information about familial relations
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Terminology
• Pedigree: family history drawn in picture
format using standard symbols
• Proband: affected family member who
brought the family to medical attention
• Consultand: person seeking genetic
evaluation
Sometimes consultand and proband are the same person!
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Basic symbols
Female MaleOther or
unspecified
Female sex
assigned at birth,
male gender
AFABAMAB
Male sex
assigned at birth,
female gender
AFAB
Non-binary
person, female
sex at birth
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Basic symbols
365 wk4 mo
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Basic symbols
N 5 P
13 weeks
Abortion
Spontaneous Abortion
Ectopic pregnancy
Product of conception
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Basic symbols
Key
Colon cancer
Thyroid cancer
Prostate cancer
Sickle cell trait
Intellectual
disability
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Basic symbols
Proband
and/or
consultand
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Basic symbols
d. 82
COD: Heart attack
Death
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Quick quiz!
• What does this symbol represent?
5 wk
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Quick quiz!
• What does this symbol represent?
5 wk
5 week old female
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Quick quiz!
• Draw the symbol for a 52-year-old man
diagnosed with hypothyroidism and atrial
fibrillation.
52
Key
Hypothyroidism
Atrial fibrillation
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Quick quiz!
• Draw the symbol for a miscarriage that
occurred at 13 weeks.
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Quick quiz!
• Draw the symbol for a miscarriage that
occurred at 13 weeks.
13 wk
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Basic Pedigree
22 22
1 1 2
1
2
1
1 3
Child
BrotherSister
Father Mother Uncle
First cousin
Maternal grandmother
Maternal grandfather
Paternal grandmother
Paternal grandfather
Aunt
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Line of
descent
Relationship line
Sibship lineFraternal twinsIdentical twins
No children by
choiceInfertility
5
IV
III
II
I
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Half siblings
Maternal half brotherPaternal half sister
and
half brother
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Elizabeth Taylor’s pedigree
How many biological children did
Elizabeth Taylor have?
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Elizabeth Taylor’s pedigree
How many biological children did
Elizabeth Taylor have?
4 children and one miscarriage
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Adoption
Adopted in Adopted out
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Quick quiz!Identify relationship of A, B, C, D,
and E to the proband
A B
C
D
E
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Quick quiz!
A B
A: Full sister
B: Half brother
C: Uncle
D: Cousin
E: Grandmother
C
D
E
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Quick quiz!
• How would you draw two parents who
recently adopted a 5-year-old girl?
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Quick quiz!
• How would you draw two parents who
recently adopted a 5-year-old girl?
5 y
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Quick quiz!
• How would you draw a couple who has not
been able to conceive due to fertility
issues?
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Quick quiz!
• How would you draw a couple who has not
been able to conceive due to fertility
issues?
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Taking a family history
• Provide brief explanation of the purpose
and process
• Indicate what information you are
interested in collecting
• Use empathy in response to traumatic
experiences
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Taking a family history
• Chronological order
– Consultand
– Children or pregnancies
– Siblings
– Parents
– Mother’s side
– Father’s side
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Taking a family history
• Make sure to record family member’s
– Age
– Major health issues including age of diagnosis
or symptom onset
– Genetic diagnosis or test results
– Targeted medical history questions
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Pedigree questions
• Ancestry specific when concerned about
relative risk
– Example: Ashkenazi Jewish ancestry
– Is there any Ashkenazi Jewish ancestry in
your family?
• Consanguinity
– Is there any possibility your parents (or you
and your spouse) are related by blood?
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Consanguinity denied
3
I
II
III
Ashkenazi Jewish ancestry
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Tools for creating a
pedigree
• Electronic genetic pedigree software
• Pedigree stencils
• My Family Health Portrait
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Review of Inheritance
Patterns
• Autosomal dominant
• Autosomal recessive
• X-linked recessive
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Autosomal dominant
• Only need one copy of a mutation to
inherit a condition
• Pedigree clues
– There is an affected family member in every
generation
– An affected individual will have an affected
parent
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Autosomal recessive
• Need 2 copies of a mutation to inherit a
condition
• Pedigree clues
– 2 unaffected parents with an affected child
– Condition may skip a generation
– More likely to see affected individuals in
consanguineous families
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X-linked recessive
• Females have two X chromosomes while
males only have one
• Pedigrees clues
– More likely to see affected males than
affected females
– Affected males cannot have affected sons
– Condition may skip a generation
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Congenital Hearing Loss
• All newborns are screened for hearing loss
at birth hospital
• 1-2 in every 1,000 babies with a
detectable level of hearing loss
• 50-60% of newborn/congenital hearing
loss believed to be genetic
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Congenital Hearing Loss
Most is Autosomal Recessive
= carrier
= affected with hearing loss
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Family history of Queen
Victoria
• Queen Victoria reigned England from
1837-1901
• Hemophilia
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Hemophilia
Prince Albert Queen Victoria
34
X-linked recessive
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Time to draw your
own!• Practice drawing your 3 generation pedigree.
• Make sure to ask yourself stepwise questions to lead you through the process (ex: how many kids do you have, how old are they, etc).
• After ~10 minutes we will come back together to discuss.
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References
• Uhlmann WR, Schuette JL and Yashar
BM. A Guide to Genetic Counseling. Wiley
(2011).
• https://www.scientificamerican.com/article/
born-to-the-purple-the-st/
• https://medlineplus.gov/genetics/understan
ding/inheritance/inheritancepatterns/
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My Family Health Portrait
• https://phgkb.cdc.gov/FHH/html/index.html