How to manage genetic test results

Overview

What are the types of genetic test results that can come back?

What do I do with a genetic test result?

How will the patient get their results?

Resources

What are the types of genetic test results that can come back?

  • Positive – the test found a genetic variant known to contribute to disease or disease risk, also called a “pathogenic” or “likely pathogenic” variant, or a “pathogenic” mutation.
  • Negative - the test did not find a genetic variant known to cause disease. A negative test result is often reassuring but does not rule out a genetic cause entirely*. Sometimes a negative result occurs due to limitations in current technology, or there could be a variant in a gene that was not included on the genetic test.

    * A “true negative” is when there is a known genetic change in the family and the person tested did not inherit it.
  • Uncertain - a variant of unknown or uncertain significance (VUS) means there isn’t enough information about the genetic variant identified to determine whether it is benign (normal) or pathogenic (contributes to disease or disease risk). Most of the time, an uncertain result shouldn't lead to changes in medical care. Additional testing for family members is sometimes helpful to clarify uncertain results. Over time, uncertain results may be updated to positive or negative once more information is known. A new report is typically issued to the ordering provider if a reclassification occurs.

What do I do with a genetic test result?

  • Remember to read the genetic test report carefully.
    See below for guidance for a few clinical areas – if you are still not sure what to, you can refer to the appropriate genetics clinic.
  • Cardiology

    • If positive for a hereditary cardiomyopathy or hereditary arrhythmia, refer patient to the Center for Inherited Cardiac Disease.

    • For a negative or uncertain result, refer to the Center for Inherited Cardiac Disease if:

      • The patient has a family history of cardiomyopathy, arrhythmia and/or sudden cardiac death.

  • Neurology

    • If positive for a hereditary neurologic condition, refer the patient to the Neurogenetics program.

    • For a negative or uncertain result, refer to the Neurogenetics program if:

      • The patient has a family history of similar neurologic concerns.

  • Pheochromocytoma/Paraganglioma

    • If positive for a hereditary pheochromocytoma/paraganglioma condition, please refer the patient to Medical Genetics.

    • For a negative or uncertain result, inform the patient to check in with Medical Genetics after 2-3 years to see if there is any reason to have updated genetic testing, or if there have been any changes to variant classification.

How will the patient get their results?

  • Results will return via PennChart.
    • The patient will have immediate access to results, unless the ordering provider has selected “Manual Release” when ordering the test. It is up to the patient to decide if they prefer the “Manual Release” option, and a discussion about their decision should be documented in the chart to remain in compliance with the Cures Act Final Rule.
    • The results will also come back to the ordering provider’s inbasket under “Results”.
  • The ordering provider’s team should contact the patient to review the results and next steps if applicable.
  • What do genetic test results look like in PennChart?
    • See what genomic results can look like in patient charts when filed to PennChart from an external lab, containing discrete variant data.
    • Epic Genetic Test Results Video

Resources