Remaining uncertainty with testing:
- Information limitations with a diagnosis
- Genetic epilepsies are often rare. Lack of long-term studies on large numbers of patients with the same underlying genetic condition mean that clinicians are often unable to provide accurate prognostic (seeing into the future) information.
- As new genes are discovered, the first cohort described often have similar (and often more severe) medical complications.
- Over time, with more individuals being tested, a clearer picture of the full spectrum of the condition will be seen, but this can take several years.
- What does it mean if genetic testing is negative?
- A negative result (no cause found) one day does not rule out the possibility of a genetic condition in an individual in the future.
- Information about genetic causes of health conditions changes over time.
- This is because there remains the possibility that new gene discovery, technology or understanding will clarify the reason when future reanalysis or more testing is available in the future.
Reanalysis
An individual who receives a negative result on an exome or genome will generally be advised to consider reanalysis (the laboratory reassessing the data for a diagnosis) as future discoveries may provide a diagnosis. The current suggested reanalysis timeframe is every 18 months.