Genetic Testing and Counseling · USMLE Step 1

Which of the following situations would most strongly indicate a referral for genetic counseling and possibly genetic testing?

  1. A patient with a long-standing history of essential hypertension
  2. A couple with no family history of disease and two healthy children
  3. A family with the same rare inherited disease across generations
  4. An otherwise healthy individual simply seeking general wellness advice
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Correct answer: A family with the same rare inherited disease across generations

A family with multiple affected individuals suggests a possible inherited disorder — making genetic counseling useful to assess recurrence risk, inheritance mode, and whether genetic testing may clarify diagnosis or risk.

Difficulty: Medium Question 3 of 20

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