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 Environmental Examples: Infection Solar skin damage Sepsis Trauma & 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),

Drawing a Pedigree Me SisterBrother MomDadMaternal 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 yo60 yo 59 yo accident 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 Severe Less Common Sex Multiple Primary or Related Occurrences Disease Without Usual Risk Factors

Now you try it…

 Cholesterol Hypertension 70 Diabetes  Cholesterol Overweight  Cholesterol Hypertension 60s Arthritis d.76 d. Heart Attack Coronary Artery Disease 50s Peripheral Artery Dis. 50s  Cholesterol Hypertension [No smoking, No diabetes] d.89 d.40 d.20s d. Heart Attack Hypertension Diabetes 50s d.67 d. Infection after childbirth

 Cholesterol Overweight  Cholesterol Hypertension 60s Arthritis d.76 d. Heart Attack Coronary Artery Disease 50s Peripheral Artery Dis. 50s  Cholesterol Hypertension [No smoking, No diabetes] d.89 d.40 d.20s d. Heart Attack  Cholesterol Hypertension 70 Diabetes Hypertension Diabetes 50s d.67 d. Infection after childbirth

Bilat. Hernias <20 Episodic Depression 20s Osteopenia Migraine Hernia 50s Depression Depression d.76 Episodic Depression ?Osteoporosis d.89 d.40 d.20s Alcoholism Bipolar 75 d.67 d. Infection after childbirth

Bilat. Hernias <20 Episodic Depression 20s Osteopenia Migraine Hernia 50s Depression Depression d.76 Episodic Depression ?Osteoporosis d.89 d.40 d.20s Alcoholism Bipolar 75 d.67 d. Infection after childbirth

Bunions Breast Cancer d. Lung Cancer Kidney Cancer 59 Smoker Bunions d.76 d.89 d.40 d.20s Breast Cancer Alzheimer Dementia 70s Skin Cancer 80 d.67 d. Infection after childbirth Kidney Stones

Bunions Breast Cancer d. Lung Cancer Kidney Cancer 59 Smoker Bunions d.76 d.89 d.40 d.20s Breast Cancer Alzheimer Dementia 70s Skin Cancer 80 d.67 d. Infection after childbirth Kidney Stones

 Cholesterol Bilat. Hernia <20 Overweight  Cholesterol Hypertension 70 Episodic Depression 20s Migraine Osteopenia Bunions Diabetes  Cholesterol Hypertension 60s Hernia 50s Depression Breast Cancer 64 Arthritis d. Lung Cancer Depression Kidney Cancer 59 Smoker Bunions d.76 d. Heart Attack Coronary Artery Disease 50s Peripheral Artery Dis. 50s  Cholesterol Hypertension Kidney Stones [No smoking, No diabetes] Alzheimer Dementia 70s Hypertension Episodic Depression Diabetes 50s ?Osteoporosis Bunions Skin Cancer 80 d.89 d.40 d.20s d. Heart Attack Alcoholism d. Infection after childbirth Bipolar Breast Cancer d.67

 Cholesterol Bilat. Hernia <20 Overweight  Cholesterol Hypertension 70 Episodic Depression 20s Migraine Osteopenia Bunions Diabetes  Cholesterol Hypertension 60s Hernia 50s Depression Breast Cancer 64 Arthritis d. Lung Cancer Depression Kidney Cancer 59 Smoker Bunions d.67 d.76 d. Heart Attack Coronary Artery Disease 50s Peripheral Artery Dis. 50s  Cholesterol Hypertension Kidney Stones [No smoking, No diabetes] Alzheimer Dementia 70s Hypertension Episodic Depression Diabetes 50s ?Osteoporosis Bunions Skin Cancer 80 d.89 d.40 d.20s d. Heart Attack Alcoholism d. Infection after childbirth Bipolar Breast Cancer 52 75