Kathryn E. Hatchell (United States of America)
Invitae Department of Medical AffairsAuthor Of 1 Presentation
GENETIC TESTING GUIDES CLINICAL MANAGEMENT OF EPILEPSY AND IMPROVES PATIENT OUTCOMES
- Dianalee McKnight (United States of America)
Abstract
Background and Aims:
Nearly half of positive genetic testing findings for epilepsy are in clinically actionable genes and can help guide clinical management. However, little information is available on how genetic information is used by clinicians to guide management and what the patient outcomes are. In this study, we addressed this gap by investigating changes in clinical management and patient outcomes after a definitive genetic diagnosis of epilepsy was identified.
Methods:
Between May-November 2020, 170 of 1,567 invited clinicians completed case report forms for 429 patients with epilepsy and a positive genetic diagnosis.
Results:
In 49.9% of cases (n=214), the positive genetic diagnosis led to a change in clinical management. In most cases (81.3%, n=174), providers changed clinical management within 3 months of receiving the genetic result. Over half of the reported clinical management changes pertained to medication adjustments. Of those who were followed up on after treatment change (n = 172), 75% (n = 129) were reported to have improvement in their condition. Specifically, 65% (n=111) of patients had improved seizure control (reduced or stopped seizures).
Conclusions:
Our study demonstrates that genetic testing can enable critical clinical management changes that improve patient outcomes. Previous patient studies demonstrated reduced healthcare costs for individuals with good seizure management compared to individuals with poor seizure control (~$14,000/year vs. ~$23,000/year, respectively), due to decreased hospitalizations and emergency department visits. Collectively these data can inform updates to guidelines to include genetic testing to improve health outcomes, and ultimately reduce healthcare costs.