Accurate phenotype assignment and identifying clinically significant drug-gene interactions (ie pharmacogenomic actionability) in psychiatric care requires comprehensive genotyping, including allele-specific copy number variants (CNVs) for CYP2D6. Patients receiving psychiatric care and referred for clinical pharmacogenomic (PGx) testing have a high prevalence of CYP2D6 and CYP2C19 actionability, according to study results presented at Psych Congress 2022, held from September 17 to 20, 2022, in New Orleans, Louisiana.
Researchers aimed to assess the prevalence of PGx actionability among patients receiving psychiatric care in a real-world setting. They conducted a study that included 11,833 de-identified records of patients who underwent PGx testing through routine psychiatric care.
Among the study patients (64% women; median age of 29 years; 56% major depressive disorder [MDD]; 46% generalized anxiety disorder; 24% attention-deficit/hyperactivity disorder, respectively), researchers found that 53% did not respond well to at least 1 prior medication and 63% never underwent PGx testing. The most common reason for ordering PGx testing was a diagnosis of MDD and history of failure to respond to neuropsychiatric medication.
Researchers observed 65% of patients had a potentially actionable CYP2D6 or CYP2C19 phenotype. Among 865 patients who attempted PGx-guided medications, 22% had at least 1 clinically actionable phenotype. It was discovered that among the 883 patients with CYP2D6 CNVs (7.5% overall), 369 patients (42%) had genotypes where CNV allele assignment changed the phenotype.
Study authors conclude, “Prevalence of CYP2D6 and CYP2C19 actionability is high in a large real-world cohort of patients receiving psychiatric care and referred for clinical PGx testing.” They add, “Comprehensive genotyping, including allele-specific CNVs for CYP2D6, is critical for accurate phenotype assignment and can identify clinically significant drug-gene interactions in psychiatric care.”
Disclosure: This research was supported by Atrium Health and Tempus Labs. Some study authors declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of authors’ disclosures.
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References:
Morris S, Stanton J, Badgeley M, Patel J. Prevalence of pharmacogenomic actionability in >11,000 patients receiving psychiatric care. Abstract presented at: Psych Congress 2022, September 17-20, 2022; New Orleans, LA. Poster 92.