Genetic Testing and Counseling · USMLE Step 1

What is a major limitation of genetic testing that must be discussed during pre-test counseling?

  1. Genetic tests always provide a clear and definitive answer
  2. Genetic tests are essentially 100% sensitive and specific
  3. Tests may yield variants of uncertain significance or false negatives
  4. Genetic tests fully replace the need for any clinical evaluation
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Correct answer: Tests may yield variants of uncertain significance or false negatives

Genetic tests may detect variants whose significance is unclear (VUS), or may not detect all causative mutations (false negatives); discussing these limitations helps set realistic expectations.

Difficulty: Medium Question 5 of 20

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