How to Take a Family Health History. What is a genetic disease?
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Transcript of How to Take a Family Health History. What is a genetic disease?
How to Take a Family Health History
What is a genetic disease?
Everything Is Genetic (and Environmental)
Single-gene
Examples:Cystic fibrosisSickle cell anemiaHemochromatosis
Multifactorial
Examples:Coronary artery diseaseVenous thromboembolismDiabetes mellitusMental illnessObstructive lung disease
Environmental
Examples:InfectionSolar skin damageSepsisTrauma & response to it
Genetic factors
Environmental factors
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
MeSister
Brother
MomDad Maternal Uncle
Maternal Aunt
Maternal Grandmother
Maternal Grandfather
Paternal Uncle
Paternal Cousin
Paternal Grandfather
Paternal Grandmother
My generation
Parents’ generation
Grandparents’ generation
Identify the person you are interviewing with an arrow
Drawing a Pedigree
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
35 yo 32 yo 30 yo
2 yo 5 mo 3 yo 1.5 yo “hole in heart”
40 yo 38 yo
d. 54 yo 55 yo 60 yo 59 yoaccident depression lung cancer 58 high cholesterol 42
Red Flags in the family history that suggest increased risk
Multiple Affected Relatives Closely-Related Affected
Relative(s)Early Onset or Unusually SevereLess Common Sex Multiple Primary or Related
OccurrencesDisease Without Usual Risk
Factors
Now you try it…
CholesterolHypertension 70Diabetes
CholesterolOverweight
CholesterolHypertension 60sArthritis
14
77 73
d.76
d. Heart AttackCoronary Artery Disease 50sPeripheral Artery Dis. 50s CholesterolHypertension[No smoking, No diabetes]
d.89d.40 d.20s
d. Heart Attack
45
12
75
HypertensionDiabetes 50s
d.67
d. Infection after childbirth
CholesterolOverweight
CholesterolHypertension 60sArthritis
14
77 73
d.76
d. Heart AttackCoronary Artery Disease 50sPeripheral Artery Dis. 50s CholesterolHypertension[No smoking, No diabetes]
d.89d.40 d.20s
d. Heart Attack
45
12
75
CholesterolHypertension 70Diabetes
HypertensionDiabetes 50s
d.67
d. Infection after childbirth
Bilat. Hernias <20
Episodic Depression 20sOsteopeniaMigraine
Hernia 50sDepression
14
77 73
Depression
d.76
Episodic Depression?Osteoporosis
d.89d.40 d.20s
Alcoholism
45
12
Bipolar
75 d.67
d. Infection after childbirth
Bilat. Hernias <20
Episodic Depression 20sOsteopeniaMigraine
Hernia 50sDepression
14
77 73
Depression
d.76
Episodic Depression?Osteoporosis
d.89d.40 d.20s
Alcoholism
45
12
Bipolar
75 d.67
d. Infection after childbirth
BunionsBreast Cancer 64
14
77 73
d. Lung CancerKidney Cancer 59SmokerBunions
d.76d.89d.40 d.20s
45
12
Breast Cancer 52
75
Alzheimer Dementia 70sSkin Cancer 80
d.67
d. Infection after childbirth
Kidney Stones
BunionsBreast Cancer 64
14
77 73
d. Lung CancerKidney Cancer 59SmokerBunions
d.76d.89d.40 d.20s
45
12
Breast Cancer 52
75
Alzheimer Dementia 70sSkin Cancer 80
d.67
d. Infection after childbirth
Kidney Stones
CholesterolBilat. Hernia <20Overweight
CholesterolHypertension 70Episodic Depression 20sMigraineOsteopeniaBunionsDiabetes
CholesterolHypertension 60sHernia 50sDepressionBreast Cancer 64Arthritis
14
77 73
d. Lung CancerDepressionKidney Cancer 59SmokerBunions
d.76
d. Heart AttackCoronary Artery Disease 50sPeripheral Artery Dis. 50s CholesterolHypertensionKidney Stones[No smoking, No diabetes]
Alzheimer Dementia 70sHypertensionEpisodic DepressionDiabetes 50s?OsteoporosisBunionsSkin Cancer 80
d.89d.40 d.20s
d. Heart AttackAlcoholism
d. Infection after childbirth
45
12
Bipolar Breast Cancer 52
75 d.67
CholesterolBilat. Hernia <20Overweight
CholesterolHypertension 70Episodic Depression 20sMigraineOsteopeniaBunionsDiabetes
CholesterolHypertension 60sHernia 50sDepressionBreast Cancer 64Arthritis
14
77 73
d. Lung CancerDepressionKidney Cancer 59SmokerBunions
d.67
d.76
d. Heart AttackCoronary Artery Disease 50sPeripheral Artery Dis. 50s CholesterolHypertensionKidney Stones[No smoking, No diabetes]
Alzheimer Dementia 70sHypertensionEpisodic DepressionDiabetes 50s?OsteoporosisBunionsSkin Cancer 80
d.89d.40 d.20s
d. Heart AttackAlcoholism
d. Infection after childbirth
45
12
Bipolar Breast Cancer 52
75