{'fraction_non_alphanumeric': 0.02157788267026298, 'fraction_numerical': 0.016857720836142953, 'mean_word_length': 5.625, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Pharmacogenetic Testing in the Pediatric Epileptic Population

Epilepsy is a chronic neurologic disorder characterized by recurrent unprovoked seizures that can be controlled with antiepileptic drugs (AEDs) in approximately 65% of patients. However, AED therapeutic windows are narrow and patients can experience severe adverse drug reactions (ADRs). CYP2C9, CYP2C19, EPHX1, and ABCB1 genetic variants can affect the metabolism and transport of AEDs. A pharmacogenetic test of these loci was developed for use in first‐time seizure pediatric patients to guide therapy and ADR risk. Laboratory specimens and quality controls were analyzed using the ABI Taqman Drug Metabolism Genotyping Assays. Genotypes were detected on the ABI 7900HT Fast Real‐Time PCR system. Testing was validated using human genomic specimens, customized plasmid DNA, and oligonucleotides representing all tested alleles. The assays demonstrated 100% specificity and 100% accuracy in detecting the correct genotype for synthetic DNA and 48 human genomic samples. To date, 53 patients have been tested. Genotype results were in agreement with expected allelic frequencies in the tested population. Test results were evaluated by a Pharmacogenetics resource team to individualize AED therapy. For 10% of these patients, the results were beneficial and provided faster therapeutic treatment. For some patients, knowing the reference genotype was useful in providing greater physician comfort of the prescribed AED.