Genetics and Risk Factors Practice Questions

60 multiple-choice questions on Genetics and risk factors for paramedic and EMT students, from Chapter 9 (Pathophysiology). Read each question, pick your answer, then tap Show answer to check it and read the explanation.

60 practice questions

1. A congenital condition is one that:

   1. A. Is always caused by an inherited gene defect
   2. B. Develops only after puberty from hormonal change
   3. C. Appears in childhood after a viral illness
   4. D. Is present at birth, inherited or not
   Show answer

   Answer: D. Is present at birth, inherited or not

   It may be inherited or acquired during development. Not all congenital conditions are inherited.

2. A familial disease is one that:

   1. A. Occurs only when a single specific gene is identified
   2. B. Is always passed directly from parent to child
   3. C. Cannot be prevented by any lifestyle change
   4. D. Is more common in a family than in the population
   Show answer

   Answer: D. Is more common in a family than in the population

   Shared environment and habits also cluster in families.

3. Modifiable risk factors include:

   1. A. Family history and birth defects
   2. B. Age, sex, and family history
   3. C. Smoking, diet, and blood pressure
   4. D. Ethnicity, genetics, and age
   Show answer

   Answer: C. Smoking, diet, and blood pressure

   Smoking, diet, activity level, and blood pressure control are modifiable. Prevention targets the modifiable ones.

4. Nonmodifiable risk factors include:

   1. A. Blood pressure and activity level
   2. B. Age, sex, and family history
   3. C. Cholesterol, weight, and tobacco use
   4. D. Diet, alcohol use, and body weight
   Show answer

   Answer: B. Age, sex, and family history

   They still matter for risk assessment.

5. A patient with a strong family history of early coronary disease:

   1. A. Has added risk only if they also smoke
   2. B. Has no added risk if physically fit
   3. C. Carries increased cardiac risk
   4. D. Is at risk only after age 65
   Show answer

   Answer: C. Carries increased cardiac risk

   Evaluate cardiac complaints carefully. Take chest pain in these patients seriously, even when young.

6. Sickle cell disease is an example of:

   1. A. An inherited lack of a clotting factor
   2. B. An acquired disorder of red blood cell production
   3. C. An autoimmune attack on red blood cells
   4. D. An inherited disorder of hemoglobin structure
   Show answer

   Answer: D. An inherited disorder of hemoglobin structure

   Vaso-occlusive crises cause severe pain and organ injury. An inherited lack of a clotting factor describes hemophilia, not sickle cell disease.

7. Hemophilia is characterized by:

   1. A. Excess clotting from too much clotting factor
   2. B. Low platelets caused by a viral infection
   3. C. Abnormal white cells crowding the marrow
   4. D. A clotting factor deficiency causing bleeding
   Show answer

   Answer: D. A clotting factor deficiency causing bleeding

   A missing clotting factor prolongs bleeding. Minor trauma can cause serious internal bleeding.

8. Cystic fibrosis primarily affects:

   1. A. Bone growth, causing brittle long bones
   2. B. Clotting, causing frequent bleeding
   3. C. Muscle strength, causing progressive weakness
   4. D. Exocrine secretions, causing thick mucus
   Show answer

   Answer: D. Exocrine secretions, causing thick mucus

   Thick mucus affects the lungs and pancreas. These patients have frequent respiratory infections.

9. Malignant hyperthermia is:

   1. A. A bacterial infection triggered by surgery
   2. B. An inherited reaction to certain anesthetics
   3. C. An environmental heat illness from exertion
   4. D. A thyroid storm triggered by surgical stress
   Show answer

   Answer: B. An inherited reaction to certain anesthetics

   Triggering anesthetic agents cause a rapid temperature rise and muscle rigidity. A family history of anesthesia problems is a clue.

10. Understanding a patient's risk factors helps the paramedic:

    1. A. Make a definitive diagnosis while in the field
    2. B. Rule out disease when risk factors are absent
    3. C. Replace the physical examination
    4. D. Weigh the likelihood of serious conditions
    Show answer

    Answer: D. Weigh the likelihood of serious conditions

    Risk factors raise or lower your index of suspicion during clinical decision making. Serious disease can occur without risk factors, so their absence never excludes it, and they add to the assessment rather than replacing it.

11. A gene is:

    1. A. A DNA segment that codes a protein
    2. B. An entire pair of matched chromosomes
    3. C. A protein that reads and copies DNA
    4. D. A specialized cell that stores the DNA
    Show answer

    Answer: A. A DNA segment that codes a protein

    Humans have about 20,000.

12. Chromosomes are:

    1. A. Proteins that copy DNA during division
    2. B. DNA structures, with 23 pairs in humans
    3. C. Single genes found in the nucleus
    4. D. Cells that carry genetic material
    Show answer

    Answer: B. DNA structures, with 23 pairs in humans

    One of each pair comes from each parent.

13. An autosomal dominant disorder requires:

    1. A. One copy of the abnormal gene
    2. B. Two copies of the abnormal gene
    3. C. An extra copy of a whole chromosome
    4. D. An abnormal gene on the X chromosome
    Show answer

    Answer: A. One copy of the abnormal gene

    Huntington disease and familial hypercholesterolemia.

14. An autosomal recessive disorder requires:

    1. A. Two copies, one from each parent
    2. B. An extra copy of chromosome 21
    3. C. An abnormal gene on the Y chromosome
    4. D. One copy from either parent
    Show answer

    Answer: A. Two copies, one from each parent

    Two copies of the abnormal gene are required. Cystic fibrosis and sickle cell disease are examples.

15. Carriers of a recessive disorder:

    1. A. Always show at least some symptoms of the disease
    2. B. Have the full disease in a milder form
    3. C. Carry one copy and are usually unaffected
    4. D. Cannot pass the gene to their children
    Show answer

    Answer: C. Carry one copy and are usually unaffected

    Carriers can still pass the gene on. Two carriers have a 25 percent chance per child.

16. X-linked disorders affect primarily:

    1. A. Males and females equally
    2. B. Only those with an extra X chromosome
    3. C. Females, who have two X chromosomes
    4. D. Males, who have only one X chromosome
    Show answer

    Answer: D. Males, who have only one X chromosome

    Hemophilia and Duchenne muscular dystrophy.

17. Chromosomal disorders include:

    1. A. Down syndrome, an extra chromosome 21
    2. B. Hemophilia A from a factor VIII defect
    3. C. Cystic fibrosis from a CFTR mutation
    4. D. Sickle cell disease from a point mutation
    Show answer

    Answer: A. Down syndrome, an extra chromosome 21

    Trisomy 21.

18. Multifactorial inheritance means:

    1. A. Several genes plus environment contribute
    2. B. A single gene causes the disease
    3. C. Only environmental exposures matter
    4. D. There is no genetic component at all
    Show answer

    Answer: A. Several genes plus environment contribute

    Heart disease and diabetes.

19. Penetrance refers to:

    1. A. How severe the trait is in one person
    2. B. The share of carriers who show the trait
    3. C. The age at which the trait first becomes visible
    4. D. The gene's location on a chromosome
    Show answer

    Answer: B. The share of carriers who show the trait

    Incomplete penetrance means some carriers are unaffected.

20. Expressivity refers to:

    1. A. The degree to which a trait shows
    2. B. Whether a gene is present at all
    3. C. The location of a gene on a chromosome
    4. D. The pattern by which a gene is inherited
    Show answer

    Answer: A. The degree to which a trait shows

    Variable expressivity means different severity.

21. A mutation is:

    1. A. A change in the DNA sequence
    2. B. A DNA change that is always harmful
    3. C. A DNA change that is always inherited
    4. D. Normal variation with no effect ever
    Show answer

    Answer: A. A change in the DNA sequence

    A mutation may or may not cause disease. Most are harmless.

22. Genetic predisposition means:

    1. A. Certainty of developing the disease
    2. B. Increased likelihood of a condition
    3. C. No added risk without symptoms
    4. D. Inherited immunity to that condition
    Show answer

    Answer: B. Increased likelihood of a condition

    Risk rises given certain exposures. Lifestyle still matters.

23. Family history is most useful when it reveals:

    1. A. Common conditions in elderly relatives
    2. B. Any disease in any relative
    3. C. Early onset or several affected relatives
    4. D. Diseases in distant relatives only
    Show answer

    Answer: C. Early onset or several affected relatives

    Early onset suggests genetic contribution.

24. Risk factors for cardiovascular disease include:

    1. A. Lifestyle alone, regardless of any genetics
    2. B. Smoking, hypertension, diabetes, and age
    3. C. Diet alone, mainly high daily salt intake
    4. D. Genetics alone, regardless of any lifestyle
    Show answer

    Answer: B. Smoking, hypertension, diabetes, and age

    Risk factors include age, sex, family history, smoking, hypertension, diabetes, lipids, obesity, and inactivity. Most are modifiable.

25. Risk factors for stroke include:

    1. A. Low cholesterol and low body weight
    2. B. Asthma, anemia, and hypothyroidism
    3. C. Advanced age alone, mostly after age 80
    4. D. Hypertension, A-fib, and smoking
    Show answer

    Answer: D. Hypertension, A-fib, and smoking

    Hypertension, atrial fibrillation, diabetes, smoking, and prior TIA are key risks. Hypertension is the biggest.

26. Risk factors for diabetes include:

    1. A. Family history, obesity, and inactivity
    2. B. Genetics alone, regardless of weight
    3. C. Smoking alone, regardless of weight
    4. D. Eating sugar alone, regardless of weight
    Show answer

    Answer: A. Family history, obesity, and inactivity

    Age and certain ethnicities also raise risk. Type 2 is largely preventable.

27. Risk factors for cancer include:

    1. A. Tobacco, radiation, and certain infections
    2. B. Environment alone, regardless of genes
    3. C. Age alone, regardless of exposures
    4. D. Genetics alone, regardless of exposure
    Show answer

    Answer: A. Tobacco, radiation, and certain infections

    Chemicals, diet, and inherited mutations also contribute. Tobacco is the largest preventable cause.

28. Risk factors for lung disease include:

    1. A. Smoking, occupational dust, and pollution
    2. B. Pollution alone, mainly in cities
    3. C. Genetics alone, mainly in children
    4. D. Smoking alone; nonsmokers are not at risk
    Show answer

    Answer: A. Smoking, occupational dust, and pollution

    Genetic factors such as alpha-1 antitrypsin deficiency also contribute. Smoking dominates.

29. Risk factors for renal disease include:

    1. A. Diabetes, hypertension, and some drugs
    2. B. Advanced age alone, mainly after age 80
    3. C. Hypertension alone, not diabetes or drugs
    4. D. Genetics alone, regardless of other illness
    Show answer

    Answer: A. Diabetes, hypertension, and some drugs

    Diabetes is the leading cause.

30. Risk factors for liver disease include:

    1. A. Genetic iron overload alone
    2. B. Viral hepatitis alone, not alcohol
    3. C. Alcohol, hepatitis, obesity, and drugs
    4. D. Alcohol alone, not obesity or drugs
    Show answer

    Answer: C. Alcohol, hepatitis, obesity, and drugs

    Alcohol, viral hepatitis, obesity, and certain medications all contribute. Fatty liver disease is rising.

31. Age as a risk factor:

    1. A. Is a risk factor for cancer only
    2. B. Is irrelevant once a diagnosis is made
    3. C. Is nonmodifiable yet affects most disease
    4. D. Is modifiable with consistently good lifestyle habits
    Show answer

    Answer: C. Is nonmodifiable yet affects most disease

    Cumulative exposure and declining reserve.

32. Sex as a risk factor:

    1. A. Affects reproductive diseases only
    2. B. Is irrelevant to disease presentation
    3. C. Affects both risk and presentation
    4. D. Can be modified with treatment
    Show answer

    Answer: C. Affects both risk and presentation

    Women with heart disease, for example, often present atypically. Hormonal and anatomic differences matter.

33. Ethnicity as a risk factor reflects:

    1. A. Environmental differences alone
    2. B. Genetic differences alone
    3. C. Differences in personal behavior alone
    4. D. Genes, environment, and access to care
    Show answer

    Answer: D. Genes, environment, and access to care

    Sickle cell disease and certain hypertension patterns.

34. Lifestyle risk factors are important because they:

    1. A. Drive most preventable disease
    2. B. Are rare in the general population
    3. C. Affect only young patients
    4. D. Cannot be changed once established
    Show answer

    Answer: A. Drive most preventable disease

    They account for most preventable disease and can be modified: smoking, diet, activity, alcohol.

35. Environmental risk factors include:

    1. A. Pollution, workplace hazards, and radiation
    2. B. Workplace exposures alone, not pollution
    3. C. Air pollution alone, not occupation
    4. D. Inherited mutations and family history
    Show answer

    Answer: A. Pollution, workplace hazards, and radiation

    Infectious agents also count. These are often beyond individual control.

36. A patient with sickle cell disease has chest pain, fever, and an SpO2 of 88%. Why is this an emergency?

    1. A. Sickled cells may be blocking vessels in the lungs
    2. B. The fever means a simple viral illness
    3. C. The spleen is making too many abnormal red cells
    4. D. Iron overload from transfusions is weakening the heart
    Show answer

    Answer: A. Sickled cells may be blocking vessels in the lungs

    Abnormal hemoglobin S deforms red cells, which block small vessels. In the lungs this causes acute chest syndrome, a leading cause of death in sickle cell disease. It needs oxygen, analgesia, and rapid transport. Fever with chest pain and hypoxia should not be dismissed as a viral illness, iron overload is a slow, chronic problem, and splenic function is usually lost rather than overactive.

37. Sickle cell crisis presents with:

    1. A. Severe pain, often in bones and chest
    2. B. High fever without any pain
    3. C. Easy bleeding from gums and nose
    4. D. A diffuse itchy rash on the trunk
    Show answer

    Answer: A. Severe pain, often in bones and chest

    Acute chest syndrome is possible. Treat pain aggressively and give fluids and oxygen.

38. Hemophilia A involves deficiency of:

    1. A. Factor IX
    2. B. Vitamin K stores
    3. C. Functional platelets
    4. D. Factor VIII
    Show answer

    Answer: D. Factor VIII

    Hemophilia B is factor IX.

39. Hemophilia patients with head injury:

    1. A. Need no special care if they are alert
    2. B. Can be observed at home by family
    3. C. Are at low risk if there is no scalp wound
    4. D. Need urgent evaluation even if minor
    Show answer

    Answer: D. Need urgent evaluation even if minor

    Intracranial bleeding risk is high even with a minor mechanism. Factor replacement is time-critical.

40. A 19-year-old with cystic fibrosis has worsening dyspnea and thick, discolored sputum. Which mechanism underlies the disease?

    1. A. Defective chloride channels make thick, trapping mucus
    2. B. Autoimmune destruction of the alveoli and airways
    3. C. Immotile cilia that cannot sweep away normal mucus secretions
    4. D. Allergic bronchospasm alone, with no infection
    Show answer

    Answer: A. Defective chloride channels make thick, trapping mucus

    CF is an autosomal recessive defect in the CFTR chloride channel. Secretions in the lungs, pancreas, and sweat glands become thick, mucus plugs the airways, and recurrent infection follows. It is not autoimmune, and it is not purely allergic. Immotile cilia describe primary ciliary dyskinesia; in CF the cilia work, but the mucus is too thick to clear.

41. Marfan syndrome increases risk of:

    1. A. Deep vein thrombosis
    2. B. Hemorrhagic stroke
    3. C. Aortic dissection
    4. D. Hypertrophic cardiomyopathy
    Show answer

    Answer: C. Aortic dissection

    Aortic dissection and aneurysm are the main risks. Tall, thin patients with long limbs. Marfan syndrome weakens connective tissue in the aortic wall; it does not raise clotting risk or thicken the heart muscle.

42. Long QT syndrome increases risk of:

    1. A. Symptomatic sinus bradycardia
    2. B. Severe resistant hypertension
    3. C. Chronic systolic heart failure
    4. D. Sudden death from torsades
    Show answer

    Answer: D. Sudden death from torsades

    Torsades de pointes can be fatal. Often presents as syncope or sudden death in the young.

43. Hypertrophic cardiomyopathy is significant because it:

    1. A. Thins and dilates the ventricular walls
    2. B. Has outflow obstruction eased by nitrates
    3. C. Is too rare to matter in the field
    4. D. Can cause sudden death in athletes
    Show answer

    Answer: D. Can cause sudden death in athletes

    It is a leading cause of sudden death in young athletes. Inherited thickening of the ventricle. Thin, dilated walls describe dilated cardiomyopathy. Nitrates lower preload and can worsen the outflow obstruction in HCM.

44. Brugada syndrome is:

    1. A. An inherited potassium channel disorder
    2. B. An inherited thickening of heart muscle
    3. C. An inherited sodium channel disorder
    4. D. An inherited weakness of the aortic wall
    Show answer

    Answer: C. An inherited sodium channel disorder

    It can cause sudden death and has a characteristic ECG pattern. Most inherited long QT syndromes involve potassium channels, inherited thickening of the heart muscle is hypertrophic cardiomyopathy, and an inherited weak aortic wall suggests Marfan syndrome.

45. Familial hypercholesterolemia causes:

    1. A. Chronic kidney disease in childhood
    2. B. High cholesterol and early heart disease
    3. C. Early-onset diabetes and obesity
    4. D. Progressive liver failure in youth
    Show answer

    Answer: B. High cholesterol and early heart disease

    Heart attacks in the 30s and 40s.

46. Alpha-1 antitrypsin deficiency causes:

    1. A. Early chronic kidney disease
    2. B. Early diabetes and obesity
    3. C. Early coronary heart disease
    4. D. Early emphysema and liver disease
    Show answer

    Answer: D. Early emphysema and liver disease

    COPD in nonsmokers or young patients.

47. Huntington disease is:

    1. A. A trisomy disorder affecting movement
    2. B. An autosomal dominant brain disorder
    3. C. An X-linked degenerative brain disorder
    4. D. An autosomal recessive brain disorder
    Show answer

    Answer: B. An autosomal dominant brain disorder

    It is neurodegenerative, with movement and cognitive decline in midlife.

48. Duchenne muscular dystrophy is:

    1. A. Autosomal dominant, affecting both sexes
    2. B. Acquired after a viral infection
    3. C. Autosomal recessive, affecting girls
    4. D. X-linked, affecting mainly boys
    Show answer

    Answer: D. X-linked, affecting mainly boys

    It causes progressive muscle weakness, with respiratory and cardiac complications.

49. Down syndrome patients may have:

    1. A. Heart disease but normal airway anatomy
    2. B. Intellectual disability with no physical issues
    3. C. No medical issues beyond learning delay
    4. D. Heart defects and atlantoaxial instability
    Show answer

    Answer: D. Heart defects and atlantoaxial instability

    Airway differences are also common. Cervical spine caution.

50. Genetic testing has implications for:

    1. A. Patients and their relatives
    2. B. The tested patient alone
    3. C. The patient's insurer alone
    4. D. The ordering physician alone
    Show answer

    Answer: A. Patients and their relatives

    Relatives share genes. Ethical considerations.

51. Pharmacogenetics refers to:

    1. A. How drugs are manufactured
    2. B. Genetic effects on drug response
    3. C. Interactions between two drugs
    4. D. Drug allergies from prior exposure
    Show answer

    Answer: B. Genetic effects on drug response

    Genes affect drug metabolism and response. Some people metabolize codeine too fast or too slow.

52. Two patients have the same vague epigastric discomfort: a healthy 25-year-old and a 68-year-old woman with diabetes and hypertension. How should risk factors change your approach?

    1. A. Raise suspicion for ACS in the older patient and obtain a 12-lead
    2. B. Treat both as gastritis, since the symptoms match
    3. C. Ignore risk factors, since the symptoms are the same
    4. D. Assume the younger patient is more likely to be having an MI
    Show answer

    Answer: A. Raise suspicion for ACS in the older patient and obtain a 12-lead

    Risk factors change how likely a diagnosis is. Older women and diabetics often have atypical ACS symptoms such as epigastric pain or nausea, so this patient needs a 12-lead and ACS workup. Matching symptoms do not mean matching risk, and age makes MI more likely, not less.

53. Which patient's chest pain warrants the highest suspicion?

    1. A. A 25-year-old with panic attacks and anxiety
    2. B. A 55-year-old diabetic smoker
    3. C. A 20-year-old with no risk factors
    4. D. A 30-year-old marathon runner with asthma
    Show answer

    Answer: B. A 55-year-old diabetic smoker

    The 55-year-old also has hypertension. Risk stacks.

54. A young patient with syncope during exercise should prompt concern for:

    1. A. A benign vasovagal episode
    2. B. An anxiety or panic attack
    3. C. Simple dehydration from sweating
    4. D. An inherited cardiac condition
    Show answer

    Answer: D. An inherited cardiac condition

    Consider HCM or long QT. Exertional syncope is a red flag.

55. Protective factors are:

    1. A. Traits that reduce disease likelihood
    2. B. Treatments given after diagnosis
    3. C. Factors that raise disease risk
    4. D. Diagnoses made from screening
    Show answer

    Answer: A. Traits that reduce disease likelihood

    Exercise, social support, and vaccination.

56. Epigenetics refers to:

    1. A. The pattern of single-gene inheritance
    2. B. Expression changes without DNA changes
    3. C. Abnormal numbers of chromosomes
    4. D. Permanent mutations in the DNA code
    Show answer

    Answer: B. Expression changes without DNA changes

    Gene expression changes without changing the DNA sequence. Environment switches genes on and off.

57. Which best describes the interaction of genetics and environment?

    1. A. Genes alone determine disease risk
    2. B. Genes set risk; environment triggers it
    3. C. Genes and environment act separately
    4. D. Environment alone determines disease
    Show answer

    Answer: B. Genes set risk; environment triggers it

    Genes load the gun and environment pulls the trigger. Both matter.

58. Family history should be documented when:

    1. A. Always, in full detail, for all
    2. B. Only for pediatric patients
    3. C. Never, since it is not prehospital
    4. D. When relevant to the complaint
    Show answer

    Answer: D. When relevant to the complaint

    Early cardiac death in relatives.

59. The most important modifiable risk factor for most chronic disease is:

    1. A. Genetic makeup
    2. B. Tobacco use
    3. C. Advancing age
    4. D. Biological sex
    Show answer

    Answer: B. Tobacco use

    It affects nearly every system.

60. Screening recommendations are often based on:

    1. A. Provider intuition alone
    2. B. Insurance coverage alone
    3. C. Patient preference alone
    4. D. Age, sex, and risk factors
    Show answer

    Answer: D. Age, sex, and risk factors

    Family history also matters. Risk-based screening.