Document Type

Honors Project On-Campus Access Only


The field of pharmacogenomics (PGx) is a new and rapidly growing area of study aimed at lowering the risk of adverse drug reactions (ADRs) by investigating individual patient genetic variations. These variations alter medication metabolism and affect the efficacy of treatment. Different styles of PGx testing ranging from single gene/drug pairs to expanded panel tests have been developed based on recent need and litigation. This study compares the safety and effectiveness of these varying PGx test types through analysis of the number of potential gene-drug interactions found and reported as well as the number of genetic variations missed within individual patients. This was done with four tests and one list in a 246-patient population, 47 of which were excluded due to having no listed gene-drug interactions. Three targeted PGx tests were used and one targeted list of the seven most genotyped genes in psychotropics. This list was used for comparison only and demonstrated that even the most commonly genotyped psychotropic genes are not sufficient for safety due to missing significant potential gene-drug interactions. The expanded panel test is utilized at The Christ Hospital Health Network and was used as the basis of comparison. It was found that targeted PGx testing, testing that focuses on specific gene-drug pairs or clinical areas, is not comparably safe to expanded panel testing which reports on all discovered gene-drug interactions. This is due to the small percentage of potential interactions that targeted testing reported to patients and the substantial amount of [potential interactions missed. Targeted PGx testing additionally found less variations within patients that could become impactful in patient medication management as those unknown variations can lead to ADRs. Future research will expand on these findings and help to show how standard integration of expanded panel PGx testing can greatly improve patient safety.



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