How to Take a Family Health History

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How to Take a Family Health
History
What is a genetic disease?
Everything Is Genetic
(and Environmental)
Single-gene
Examples:
Cystic fibrosis
Sickle cell anemia
Hemochromatosis
Multifactorial
Examples:
Coronary artery disease
Venous thromboembolism
Diabetes mellitus
Mental illness
Obstructive lung disease
Genetic factors
Environmental factors
Environmental
Examples:
Infection
Solar skin damage
Sepsis
Trauma & response to it
Everything Is Genetic
Even getting hit by a car
Standard Pedigree Symbols
Bennett, et al. (1995). Recommendations for standardized human
pedigree nomenclature. Am J Hum Genet, 56(3), 745-52.
Drawing a Pedigree
Grandparents’
generation
Paternal
Grandfather
Paternal
Grandmother
Maternal
Grandfather
Maternal
Grandmother
Parents’
generation
Paternal
Uncle
Dad
Mom
My generation
Paternal
Cousin
Me
Sister
Brother
Maternal
Uncle
Maternal
Aunt
Drawing a Pedigree

Identify the person you are interviewing with an
arrow
Degrees of Relationship
First-degree relatives: parents, siblings, children
Second-degree relatives: half-siblings, aunts, uncles,
grandparents, nieces & nephews
Third-degree relatives: first cousins
Data to Collect





Age, birth date, or year of birth
Relevant health information
Diagnosis, age at diagnosis
Age at death, or years of birth/death
Cause of death
d. 70’s
d. mid 70’s
“natural causes” dementia mid 60s
d. 54 yo
accident
40 yo
55 yo
depression
38 yo
60 yo
lung cancer 58
35 yo
2 yo
5 mo
59 yo
high cholesterol 42
32 yo
3 yo
“hole in heart”
30 yo
1.5 yo
Red Flags in the family history
that suggest increased risk






Multiple Affected Relatives
Closely-Related Affected Relative(s)
Early Onset or Unusually Severe
Less Common Sex
Multiple Primary or Related Occurrences
Disease Without Usual Risk Factors
Now you try it…
d.40
d. Heart Attack
75
d.76
d.20s
d.89
d. Heart Attack
Coronary Artery Disease 50s
Peripheral Artery Dis. 50s
 Cholesterol
Hypertension
[No smoking, No diabetes]
d. Infection after
childbirth
77
d.67
73
 Cholesterol
Hypertension 60s
Arthritis
 Cholesterol
Hypertension 70
Diabetes
45
 Cholesterol
Overweight
14
Hypertension
Diabetes 50s
12
d.40
d. Heart Attack
75
d.76
d.20s
d.89
d. Heart Attack
Coronary Artery Disease 50s
Peripheral Artery Dis. 50s
 Cholesterol
Hypertension
[No smoking, No diabetes]
d. Infection after
childbirth
77
d.67
73
 Cholesterol
Hypertension 60s
Arthritis
 Cholesterol
Hypertension 70
Diabetes
45
 Cholesterol
Overweight
14
Hypertension
Diabetes 50s
12
d.40
Alcoholism
75
Bipolar
d.76
d.20s
d.89
Episodic Depression
?Osteoporosis
d. Infection after
childbirth
77
d.67
73
Episodic Depression 20s
Osteopenia
Migraine
Hernia 50s
Depression
45
Bilat. Hernias <20
14
12
Depression
d.40
Alcoholism
75
Bipolar
d.76
d.20s
d.89
Episodic Depression
?Osteoporosis
d. Infection after
childbirth
77
d.67
73
Episodic Depression 20s
Osteopenia
Migraine
Hernia 50s
Depression
45
Bilat. Hernias <20
14
12
Depression
d.40
d.76
d.20s
d. Infection after
childbirth
75
Breast Cancer 52
d.89
Alzheimer Dementia 70s
Skin Cancer 80
Kidney Stones
77
d.67
73
Bunions
Breast Cancer 64
45
14
12
d. Lung Cancer
Kidney Cancer 59
Smoker
Bunions
d.40
d.76
d.20s
d. Infection after
childbirth
75
Breast Cancer 52
d.89
Alzheimer Dementia 70s
Skin Cancer 80
Kidney Stones
77
d.67
73
Bunions
Breast Cancer 64
45
14
12
d. Lung Cancer
Kidney Cancer 59
Smoker
Bunions
d.40
d. Heart Attack
Alcoholism
75
Bipolar
Breast Cancer 52
d.76
d.20s
d.89
d. Heart Attack
Coronary Artery Disease 50s
Peripheral Artery Dis. 50s
 Cholesterol
Hypertension
Kidney Stones
[No smoking, No diabetes]
d. Infection after
childbirth
77
Alzheimer Dementia 70s
Hypertension
Episodic Depression
Diabetes 50s
?Osteoporosis
Bunions
Skin Cancer 80
d.67
73
 Cholesterol
Hypertension 70
Episodic Depression 20s
Migraine
Osteopenia
Bunions
Diabetes
 Cholesterol
Hypertension 60s
Hernia 50s
Depression
Breast Cancer 64
Arthritis
45
 Cholesterol
Bilat. Hernia <20
Overweight
14
12
d. Lung Cancer
Depression
Kidney Cancer 59
Smoker
Bunions
d.40
d. Heart Attack
Alcoholism
75
Bipolar
Breast Cancer 52
d.76
d.20s
d.89
d. Heart Attack
Coronary Artery Disease 50s
Peripheral Artery Dis. 50s
 Cholesterol
Hypertension
Kidney Stones
[No smoking, No diabetes]
d. Infection after
childbirth
77
Alzheimer Dementia 70s
Hypertension
Episodic Depression
Diabetes 50s
?Osteoporosis
Bunions
Skin Cancer 80
d.67
73
 Cholesterol
Hypertension 70
Episodic Depression 20s
Migraine
Osteopenia
Bunions
Diabetes
 Cholesterol
Hypertension 60s
Hernia 50s
Depression
Breast Cancer 64
Arthritis
45
 Cholesterol
Bilat. Hernia <20
Overweight
14
12
d. Lung Cancer
Depression
Kidney Cancer 59
Smoker
Bunions
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