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