Using exome analysis as a tool for genetics acquaintance in a psychiatry residence program

Abstract

Objective: In this paper, a residency program at a Brazilian University Hospital shares its experience with a genetic screening test during the investigation of an inpatient with schizophrenia features. Method: A whole exome sequencing study investigation of a clozapine-refractory patient with schizophrenia served as a facilitator for mastering skills in genetics. Results: During the hospitalization of a 26-year-old patient with clozapine-refractory schizophrenia, the medical residency team noted syndromic features, such as retrognathia, large ear pinnae, pectus excavatum, and a longer wingspan relative to height. These findings led to an interest in genetic evaluation using exome sequencing. The exam showed variations in TMEM106B, IRF2BPL, and ALKBH8, leading to the hypothesis of polygenic heritage. The variations found are previously linked to a wide variety of neuropsychiatric syndromes. Conclusions: Clinical practice in modern psychiatry demands deep knowledge in genetics as genetic and pharmacogenetic tests become more accessible. Genetic training is imperative for the 21st-century psychiatric resident so that one can critically assess this field of knowledge. In this paper, a residency program at a Brazilian University Hospital shares its experience in genetics learning.