Summary: Topics to cover with your patient prior to a referral for possible exome or genome sequencing.
By JAX Clinical Education | March 2025
General Benefits, Risks, and Limitations of Exome and Genome Sequencing
- Exome and genome sequencing 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 treatment options, and provide family planning information.
- Results may have medical or reproductive implications for family members.
- Exome and genome sequencing may not find a diagnosis for various reasons, including limitations in the testing technology and interpretation of 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 and genome sequencing offers both benefits and risks:
- Assesses more of the genome
- Increases chances for secondary findings and uncertain results
- May or may not be covered by insurance
What Happens at an Appointment with a Genetic Expert
- The genetic specialist expert will conduct a clinical evaluation, obtain the family history, and review medical reports.
- If testing is indicated, there are various types of tests that may be considered (chromosomal testing, targeted gene tests, exome or genome sequencing). The specialist will work with the patient to select the best test for their situation.
- The specialist will talk with the patient or 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 discuss the types of results (positive, negative, inconclusive, or unexpected) and how anticipated reactions to these results may influence decision-making about pursuing exome or genome sequencing.
- The specialist will discuss the lab’s policy about reporting secondary findings (clinically actionable results that are not related to the reason for testing) and the patient’s ability to opt in or out of learning this information.
- 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.
Learn More
Genomic Testing for Diagnosis (CME|CNE). Practice identifying patients who may benefit from genomic testing and communicating with patients, families, and genetic experts about testing.
Genetic Testing in Pediatric Neurology (CME|CNE). Practice identifying when further value might be added by a molecular diagnosis and choosing the best genetic tests for the clinical context.
Disclaimer
All information in this resource is provided for educational purposes only.
