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