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
When a genetic condition has been identified, the genetic provider can:
The referring or managing provider can:
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.
When no causal variant is identified, the genetic provider can:
The referring or managing provider can:
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.
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.
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:
For patients without a genetic diagnosis, follow-up may be helpful in order to:
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.
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.
All information in this resource is provided for educational purposes only.