Genetic Testing and Counseling · USMLE Step 1

What distinguishes predictive (pre-symptomatic) genetic testing from diagnostic testing?

  1. Predictive testing assesses risk before symptoms; diagnostic confirms disease after
  2. Predictive testing is only ever performed on young children
  3. Diagnostic testing can only be carried out in the prenatal period
  4. Predictive testing relies on an entirely different DNA technology
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Correct answer: Predictive testing assesses risk before symptoms; diagnostic confirms disease after

Predictive or pre-symptomatic testing estimates risk of developing a disease later (e.g. hereditary cancer), whereas diagnostic testing is used to confirm a genetic disorder in symptomatic individuals. Genetic counseling is important in both.

Difficulty: Medium Question 14 of 20

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