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Ordering and Interpreting Genetic Tests

You'll be able to choose the right genetic test for a given clinical scenario and interpret the resulting report accurately in the context of patient care.

What this track covers

This track covers how to select among germline and somatic genetic tests, read variant classifications and result reports, and apply findings to hereditary cancer, cardiac, and rare disease workups. It also addresses pre- and post-test counseling and how to handle implications for family members.

What you will practice

  • Match a clinical presentation to the appropriate genetic test type
  • Interpret variant classifications, including variants of uncertain significance
  • Distinguish germline from somatic testing indications
  • Structure a pre-test counseling conversation and informed consent discussion
  • Identify when cascade testing for family members is indicated

Simulator scenario

A patient with a strong family history of early-onset breast and ovarian cancer presents for pre-test counseling, requiring the clinician to select an appropriate panel and discuss implications before ordering.

Board question topics

  • Selecting germline vs. somatic testing
  • Interpreting variant classification categories
  • Cascade testing and family communication
  • Pre-test counseling and informed consent essentials

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