Patient Management after Genomic Testing

Summary: Collaboration in patient management between the referring provider and the genetic expert will lead to optimum patient care. The genetic specialist typically provides guidance to the referring provider in developing a management plan based on test results. 

By JAX Clinical Education | March 2025

Positive Results

When a genetic condition has been identified, the genetic provider can:

• Communicate recommended changes in management based on guidelines and expert opinion to the patient and referring provider.
• Provide genetic counseling regarding the new diagnosis.
• Assist in family communication, which may include testing of at-risk relatives.

The referring or managing provider can:

• Coordinate and manage patient medical care as indicated.

Note: When testing provides a “likely” diagnosis (e.g., likely pathogenic variant), recommendations will be very similar to those with positive results but may also include follow-up testing or tracking of variant interpretation over time.

Negative Results

When no causal variant is identified, the genetic provider can:

• Provide guidance for a personalized management plan based on the patient’s clinical presentation and family history.
• Discuss any further testing that may be warranted, now or in the future.
• Provide genetic counseling to help the patient/family cope with a lack of a diagnosis when a syndrome is still suspected, and address any related psychosocial concerns.

The referring or managing provider can:

• Support the patient living without an explanation for his or her condition.
• Coordinate and manage patient medical care as indicated.
• Share any new clinical information with the genetic provider that could inform the interpretation of genetic data in the future.
• Consider periodic re-referral of patients to genetic services for evaluation, especially with changes in the patient’s clinical history.

VUS Results

Variants of uncertain significance (VUS) may be reported in various genetic and genomic tests and are likely to be numerous in large scale tests like multigene panels, exome, and genome sequencing. Patient communication and management is typically similar to a negative result (see above) but will involve periodic checking in with the genetic provider or laboratory regarding an update on the VUS classification.

Secondary Findings (a type of positive result)

The patient and/or parents may have opted to receive results unrelated to the condition for which the referral was initially made. These secondary findings may have important clinical impact and typically involve a change in management based on guidelines and expert opinion.

• A secondary finding may be the only clinically significant result identified through genomic testing, in which case the patient is still “negative” for having a diagnosis for the cause of his or her symptoms.
• A secondary finding may also be identified along with diagnosis or VUS, and the patient should be managed accordingly.

Ongoing Follow-Up

Regardless of results, the genetic provider may recommend consultation with the patient every 1-2 years. For patients with a diagnosis, follow-up visits can:

• Ensure the patient is following the most current management guidelines.
• Help to coordinate ongoing evaluations and management.
• Inform consideration of new treatment options.
• Share new insights into the natural history of the condition.

For patients without a genetic diagnosis, follow-up may be helpful in order to:

• Assess changes in personal or family history.
• Identify if additional testing or reanalysis of genomic data is indicated.
• Tailor ongoing management.

Providers on the care team should communicate with each other about changes in recommended management protocols, or changes in family decisions about the evaluation or management plan.

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.

Disclaimer

All information in this resource is provided for educational purposes only.