Accessing and understanding genetic testing results from GeneDx

Some genetic changes, also known as variants, may be hard to interpret, which is what makes them ‘uncertain.’ A variant is called uncertain if there’s limited or inconclusive data about it. In many cases, this is because it hasn’t been seen often enough in people with similar symptoms to draw clear conclusions.

Not necessarily. It just means that right now, there isn’t enough evidence to clearly link a genetic variant to the condition. As science advances, so does our understanding of genetic conditions—and our ability to find answers for more patients.

Yes—as our understanding of genetic disease evolves, so does the way we understand genetic variants. We may reclassify a variant based on new evidence about the genetic variant or patient-specific clinical information. This can include:

- Published research
- Additional testing from parents or biological relatives
- Updates to a person’s medical or family history
- Advances in technology and interpretation tools

Yes—a ‘VUS’ can become more certain over time. Our team continuously checks for new gene discoveries and reclassifications. Families and providers can help move things forward by:

- Considering parental or familial testing to learn whether the variant is inherited or de novo.
- Exploring current research related to the gene(s) in question—and staying open to future studies. Our team will reach out as opportunities to participate in GeneDx collaborative studies come up.
- Asking for a reanalysis (one reanalysis is included at no cost with every exome or genome test).
- Updating and monitoring for any changes in symptoms or medical history and checking in with GeneDx to let us know when they change.

Every report includes next steps tailored to your patient. For ‘Negative’ or ‘VUS’ results, we often recommend one or more of the following:

- Connecting with a genetic counselor to talk through what the result means.
- Consider any follow-up testing recommended or additional family studies.
- Asking about reanalysis down the line—as science evolves, new answers can emerge.