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Genetic Testing in Epilepsy improves disease management and outcomes
![Genetic Testing in Epilepsy improves disease management and outcomes Genetic Testing in Epilepsy improves disease management and outcomes](https://medicaldialogues.in/h-upload/2022/11/02/750x450_189648-download-64.webp)
Genetic Testing in Epilepsy improves disease management and outcomes suggest a recent study published in the JAMA Neurology
It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.
A study was conducted to evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.
This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals.
Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms.
Results:
- Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals.
- The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days).
- A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result.
- The most common clinical management changes were the addition of a new medication, the initiation of medication, the referral of a patient to a specialist, vigilance for subclinical or extra neurological disease features.
- Among 167 patients with follow-up clinical information available 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects.
- A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]).
- No clinical management changes were reported for 178 patients (42.6%).
Results of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes.
Reference:
McKnight D, Morales A, Hatchell KE, et al. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice. JAMA Neurol. Published online October 31, 2022. doi:10.1001/jamaneurol.2022.3651
Keywords:
Genetic, Testing, Epilepsy, improves, disease, management, outcomes, JAMA Neurology, McKnight D, Morales A, Hatchell KE
Dr. Shravani Dali has completed her BDS from Pravara institute of medical sciences, loni. Following which she extensively worked in the healthcare sector for 2+ years. She has been actively involved in writing blogs in field of health and wellness. Currently she is pursuing her Masters of public health-health administration from Tata institute of social sciences. She can be contacted at editorial@medicaldialogues.in.
Dr Kamal Kant Kohli-MBBS, DTCD- a chest specialist with more than 30 years of practice and a flair for writing clinical articles, Dr Kamal Kant Kohli joined Medical Dialogues as a Chief Editor of Medical News. Besides writing articles, as an editor, he proofreads and verifies all the medical content published on Medical Dialogues including those coming from journals, studies,medical conferences,guidelines etc. Email: editorial@medicaldialogues.in. Contact no. 011-43720751