Talking points about exome testing

Topics to cover with your patient prior to a referral for possible exome testing.

General benefits, risks, and limitations of exome testing

  • Exome testing may help reach a diagnosis for the patient’s clinical symptoms.
  • Knowing the diagnosis may provide information about what to expect for the patient in the future, identify potential treament options, and provide family planning information.
  • Results may have medical or reproductive implications for family members.
  • Exome testing may not find a diagnosis for various reasons, including limitations in the testing technology as well as how the laboratory interprets the data.
  • Results can raise psychosocial issues:
    • Psychological adjustment and/or anxiety related to a new diagnosis and the possibility of additional health risks
    • Privacy and discrimination concerns
    • Frustration or distress if no diagnosis is reached
    • Discovery that family relationships are different than expected
  • Compared to other genetic tests that assess a single gene or group of related genes, the large scope of exome testing offers both benefits and risks:
    • Assesses more of the genome
    • Increases chances for secondary findings and uncertain results
    • May or may not be more cost effective

What happens at an appointment with a genetic expert

  • The genetic specialist will conduct a clinical evaluation, obtain a family history, and review medical reports.
  • If genetic testing is indicated, there are various types of tests that may be considered (targeted gene tests, exome testing, exome testing in conjunction with other tests). The specialist will work with the patient to select the best test for their situation.
  • The specialist will talk with the patient and, if appropriate, parents about their motivations for a genetic evaluation and testing.
  • Ultimately, decision-making about whether or not to proceed with a genetic test will be shared between the patient/parents and specialist.
  • Prior to testing, the specialist will review the types of results (positive, negative, inconclusive, or unexpected) and how anticipated reactions to these results may influence decision-making about pursuing exome testing.
  • Sometimes testing of biological parents (trio testing) is recommended to help with test interpretation.
  • The specialist will review practicalities of testing, including cost, insurance coverage, and how the results will be returned.

Updated August 2022