GENETIC TOOLS
Genetics Through a Primary Care Lens
41 Teaching Cases

Breast and ovarian cancer
o Case 1. 36-year-old woman asks about genetic testing to assess breast
cancer risk
o Case 2. A Jewish woman asks about the "breast cancer gene"
o Case 3. College student asks about the breast cancer genetic test her
mother had

Coronary heart disease
o Case 4. A healthy young man whose father died of CHD at age 50
o Case 5. A 47-year-old man with a heart attack
o Case 6. A 40-year-old woman who is overweight, with low HDL and
borderline blood sugar

Hereditary peripheral neuropathy
o Case 7. Resident receives a troubling phone call about peripheral
neuropathy from a patient's relative

Colorectal cancer
o Case 8. A 42-year-old woman unaware of her family history of colorectal
cancer (CRC)
o Case 9. Colorectal cancer in a 28-year-old woman

Hearing loss, congenital
o Case 10. A newborn boy with a failed newborn hearing screen
o Case 11. Parents seek reproductive counseling following the diagnosis of
DFNB1-related hearing loss in their son

Cystic fibrosis
o Case 12. Failure to thrive: workup results in diagnosis of CF
o Case 13. Parents concerned about risk of having a child with CF

Dementia
o Case 14. Suspected dementia in an 80-year-old woman
o Case 15. Cognitive difficulties in a 45-year-old man

Developmental delay
o Case 16. A two-year-old boy with developmental delay
o Case 17. A sister with learning disability of unknown etiology
o Case 18. Newborn with 22q11.2 deletion syndrome

Diabetes mellitus
o
o
Case 19. Question about a child participating in research related to type 1
diabetes mellitus
Case 20. Family history of type 2 diabetes mellitus (T2DM)

Down syndrome
o Case 21. A 36-year-old woman offered prenatal diagnosis for Down
syndrome
o Case 22. Down syndrome in a newborn

Duchenne muscular dystrophy (DMD)
o Case 23. A young woman with a family history of Duchenne muscular
dystrophy

Huntington disease
o Case 24. Patient worried because his grandfather died of Huntington
disease

Iron overload
o Case 25. Fatigue in a 47-year-old man
o Case 26. Patient with a question about hemochromatosis

Klinefelter syndrome
o Case 27. 35-year-old man with a new diagnosis of Klinefelter syndrome:
questions of paternity
o Case 28. A 14-year-old boy: the clinical utility of a diagnosis of
Klinefelter syndrome

Medullary thyroid cancer, inherited
o Case 29. Medullary thyroid cancer in a 40-year-old woman
o Case 30. Difficulties in family testing for a cancer syndrome

Polydactyly
o Case 31. Family history of extra finger (polydactyly)

Postpartum hemorrhage
o Case 32. A 30-year-old woman with postpartum hemorrhage

Renal failure
o Case 33. Renal failure in a 38-year-old woman

Sickle cell
o Case 34. Sickle cell disease identified in newborn screening
o Case 35. A mother finds out that she and her son are sickle cell carriers

Hemoglobin E/Beta-thalassemia
o Case 36. A one-year-old with hemoglobin E/beta-thalassemia

Recurrent pregnancy loss
o
Case 37. Recurrent miscarriages after the birth of a healthy child

Ashkenazi Jewish carrier testing
o Case 38. Carrier testing for individuals with Ashkenazi Jewish
background

Thrombophilia
o Case 39. Two patients presenting to a walk-in clinic with symptoms of a
blood clot

Neurofibromatosis
o Case 40. Does this child have neurofibromatosis?

Pharmacogenetics
o Case 41. A patient on warfarin asks about genetic testing