Clinical Characteristics of a Commercial Pharmacogenetic Testing Population

Pharmacogenetic testing is becoming more common, especially to provide guidance for psychiatric medications. Over 17 psychotropic medications currently have a Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline. Several clinical trials have described PGx testing in specific patient populations, but various exclusion criteria create cohorts that may not represent real-world populations. Given the overall undefined characteristics of a real-world population utilizing commercial PGx testing, the clinical presentation of 15,198 patients that used a commercial PGx laboratory (Genomind) from October 15, 2018 through April 11, 2023 was assessed. These 15,198 patients include those whose provider conducted a clinical consultation with a Genomind psychopharmacologist, regardless of ICD diagnosis on the requisition form. Data were extracted from de-identified consult notes entered by the psychopharmacologist. Consultants made a total symptom severity assessment based on CGI-S (Clinician Global Impression Severity) criteria. Most patients were described as mildly (15%), moderately (59%), or markedly ill (21%). The most common presenting symptoms identified in the cohort were “Anxious” (61.6%), “Depressed” (61.1%), “Inattentive” (37.8%) and “Hyperactive” (11.4%). The most common co-occurring symptoms in patients with a depressive presentation were “Anxious” (68.1%), “Inattentive” (16.0%), “Manic/Hypomanic” (11.1%), “Insomnia” (9.8%) and “Irritable/Angry” (7.4%). The most common co-occurring symptoms in patients presenting with anxiety were “Depressed” (67.6%), “Inattentive” (20.9%), “Panic” (11.5%), “Worry/Rumination” (11.2%) and “Hyperactive” (11.1%). This analysis suggests that PGx testing is commonly being utilized in patients with symptoms of anxiety, mood lability and inattentiveness. Future PGx research should prioritize the selection of patients with these symptoms to generate evidence that matches the real-world users of commercial PGx services. Funding Genomind, Inc.