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Date of Award


Document Type

Thesis - Campus Access Only

Degree Name

MS in Human Genetics

First Advisor

Laura Hercher, MS, CGC


Psychiatric pharmacogenetics (PGx) describes the use of pharmacogenetic testing to guide selection of an optimal therapeutic approach for patients in need of psychiatric medication. PGx is intended to inform providers and patients if a patient’s genotype may impact the efficacy of a psychiatric medication, or the likelihood of side effects. Commercial PGx tests typically report all guideline-based and well-documented gene-drug associations, but often include additional gene-drug interactions supported by emerging evidence as well. The evidence and rationale for commercial proprietary algorithms governing recommendations are not commonly disclosed to purchasers. Commercial labs have varying methods of reporting out their findings to providers and patients, including approaches intended to help users visualize the results. Differences in algorithms and reporting practices cause significant inconsistencies in the gene-drug recommendations, a source of confusion and distrust among both providers and patients. Here we perform an Inductive Content Analysis on seven transcripts from semi-structured interviews consisting of three people with lived experience of PGx for psychiatric medication management (PWLE) and four PGx subject matter experts (SME). We scored reports from ten commercial psychiatric PGx labs based on best practices extrapolated from SME/PWLE groups. Experiences and perspectives with psychiatric PGx tests were also explored for each group. The discordance in perceptions between SMEs and PWLEs highlights the importance of pre-test education and the need for clear reports with transparent evidence that can be interpreted by providers and patients alike.