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Key Takeaways
- Genetic testing is increasingly viewed as an ongoing process rather than a one-time event.
- Reanalysis and updated testing approaches may uncover answers that were previously missed.
- Neurologists are increasingly discussing exome and genome sequencing as first-tier testing approaches.
- Conversations at AAN 2026 reflected growing awareness around access, longitudinal care, and the evolving role of genetic testing in patient management.
Why Genetic Testing Is Becoming an Ongoing Process in Neurology Care
Genetic testing continues to move toward the center of neurologic care, both for pediatric patients and also adult patients with key phenotypes like epilepsy. At this year’s American Academy of Neurology Annual Meeting, among the topics shaping modern neurology, it was clear that genetic testing is top of mind.
At the same time, testing is increasingly viewed not as a one-time step, but rather as a tool that can be revisited to unlock a genetic diagnosis later in time. A key theme emerging from the meeting was the growing recognition that comprehensive approaches like exome sequencing can deliver value well beyond the initial report. Even if there is not a genetic answer established upfront, in many cases there is opportunity to uncover genetic answers as knowledge advances.
The AAN meeting is an important finger on the pulse, a major indicator of larger changes occurring across the neurology landscape, particularly in how clinicians think about the timing, utility, and ongoing role of genetic testing in patient management. Here are some reflections from speakers at AAN sessions about these topics.
Why Test Timing and Test Type Matter in Neurology Genetic Testing
A key nuance emphasized throughout the meeting was that it is not only whether genetic testing has been performed, but also when it was done and what type of testing was used. Discussions highlighted the importance of asking whether prior testing should be revisited, either through reanalysis of existing data or through updated approaches such as exome or genome sequencing.
This evolving approach to test selection reflects a broader shift in how clinicians are thinking about genetic evaluation over time. In one discussion, American Academy of Pediatrics (AAP) guidance was referenced, including its positioning of exome and genome sequencing as first-tier testing, highlighting how neurologists are considering this approach when caring for patients with developmental delay and intellectual disability.
How Reanalysis and Repeat Testing Can Help Unlock Genetic Diagnoses
A practical point was raised in multiple sessions: genetic results should not be viewed as fixed. Reanalysis or repeat testing over time can meaningfully change both diagnostic clarity and management decisions. Advances in technology and interpretation mean that prior negative or inconclusive results may warrant re-evaluation, and that updated testing strategies can yield new insights that impact both diagnosis and management.
These discussions also raised a more practical question that surfaced across multiple sessions: where does genetic testing add meaningful value when a clinical diagnosis is already established? Speakers noted that even when a clinical diagnosis is established, genetic testing may provide additional value, particularly in guiding management and supporting family counseling, including recurrence risk considerations.
Improving Access to Genetic Testing Resources in Neurology Care
A session survey highlighted variability in how frequently clinicians order genetic testing, as well as a clear desire for additional support and resources for testing. Cost and access were also discussed, with speakers suggesting that financial barriers are not always as limiting as they are perceived to be, particularly when clinicians are familiar with available testing pathways and support resources.
Overall, a consistent thread emerged: there is a shifting mindset on the value of genetic testing. No longer is a test’s value solely defined by its initial diagnostic yield. The test's role is expanding over time with the power to refine earlier conclusions, which can provide new opportunities to evolve and improve a patient’s care over time as well.
For neurologists, these conversations point to an increasing understanding that genetic testing is not a one-time event. It’s becoming an ongoing process, with revisiting tests creating chances for patients to benefit as the borders of genetics knowledge continue to expand.
