Genetic Testing and Counseling · USMLE Step 1

What is “cascade screening” in the context of hereditary disorders and genetic counseling?

  1. Testing the same individual repeatedly on an annual schedule
  2. Screening randomly selected unrelated members of the population
  3. Testing first-degree relatives of a proband with a known variant
  4. Performing prenatal testing routinely on every ongoing pregnancy
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Correct answer: Testing first-degree relatives of a proband with a known variant

Cascade screening involves offering genetic testing to close biological relatives of an individual (proband) known to carry a pathogenic variant, to identify carriers or at-risk individuals early.

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