A research team exploring how genes and environmental factors interact in psychiatry has discovered that a history of sexual trauma and a genetic tendency to develop mental illness are associated with increased risk for schizophrenia, bipolar disorder and major depression.
The findings, reported Oct. 30 in the journal JAMA Psychiatry, highlight the importance of evaluating the contributions of social and environmental risk factors in human genetic studies and emphasize the need for routine screening of sexual trauma in clinical settings.
“Evaluating how genetic risk interacts with environmental risk factors such as sexual trauma is important for understanding how mental illness develops and identifying high-risk groups for early intervention,” said Allison Lake, an MD/PhD student at Vanderbilt University School of Medicine and co-corresponding and first author of the study.
The investigators found that polygenic scores — estimates of a person’s genetic predisposition for a specific disease — for schizophrenia and bipolar disorder had weaker associations with mental health outcomes in individuals who reported sexual trauma.
“Our study suggests that schizophrenia and bipolar disorder polygenic scores generated using existing methods may be less predictive in the context of sexual trauma,” Lake said. “As polygenic scores are being considered for use in clinical settings, our findings demonstrate the importance of expanding clinical screening efforts for trauma and other environmental risk factors that may impact the clinical interpretation of polygenic scores.”
The investigators evaluated electronic health records (EHR) linked to genomic data from two large hospital systems that are part of PsycheMERGE, a collaborative network of EHR-linked biobanks with a focus on advancing precision psychiatry in diverse populations. The study included clinical and genetic data from 96,002 participants in EHR-linked biobanks at Vanderbilt University Medical Center (BioVU) and Mass General Brigham in Boston.
The study population included individuals of European (88.5%) and African (11.5%) ancestries. The team used a natural language processing approach to detect sexual trauma disclosures, which includes sexual abuse, assault and rape, from clinical notes.
In her future career, Lake aims to build on the research by investigating how natural language processing and artificial intelligence can be used to accurately characterize social determinants of health from the EHR for incorporation into genomic studies.
“All natural language processing algorithms are limited by what data are available in the medical record, which is a consequence of what physicians screen for and document,” Lake said. “As a future psychiatrist, I hope to advocate for routine screening and documentation of social determinants of health in the medical record to both enhance clinical care and improve the quality of clinical data that can be extracted from the EHR for research use.”
Lea Davis, PhD, a former VUMC faculty member who is now at Icahn School of Medicine at Mount Sinai, is co-corresponding author of the JAMA Psychiatry paper. Other VUMC authors include Ky’Era Actkins, PhD, and Nikhil Khankari, PhD, in the Division of Genetic Medicine and Vanderbilt Genetics Institute, and John Shelley, MS, in the Department of Biomedical Informatics. The research was supported in part by grants from the National Institutes of Health (R01MH118233, R01HG011405, F30MH132165, T32GM007347).
