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Reading reports

In this video, we will look at the information given by a genetic report, and how to understand the results in the report in clinical practice

This video outlines different types of genetic reports received by clinicians, the different results they may give and what the implications of these are in clinical practice.

What are the key points to consider when reading a genetic test report?

  • Check all identifying information carefully
  • Check sample type and test carefully and ensure they are as expected
  • Be clear what the test result has excluded and what it has not excluded
  • Do not over-interpret variants of uncertain significance and seek expert advice when necessary

Talking point

Do you think a genetic report should be written so that it is primarily understood by:

  1. Only doctors who are used to reading genomic reports i.e. Clinical Geneticists?
  2. Any referrer who is clinically trained but not necessarily used to reading genetic reports?
  3. The patient?
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The Genomics Era: the Future of Genetics in Medicine

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