Defense Date


Document Type


Degree Name

Doctor of Philosophy


Human Genetics

First Advisor

Danielle Dick


Rapid advances in gene identification in recent years suggest that the provision of tailored genotypic information is increasingly likely in the future, as we move toward an era of precision medicine. Public websites already allow users to upload their raw genetic data obtained from direct-to-consumer companies to provide users with polygenic risk scores for a wide variety of health outcomes. Data from one of these popular websites illustrates an exponential increase in individuals accessing polygenic risk scores over the last several years, with a majority of the top twelve most accessed polygenic risk scores being for substance use and psychiatric disorders. However, due to the complex nature of polygenic risk scores, there are concerns that providing genetic risk information for substance use and psychiatric disorders may have a negative influence on behavior, self-efficacy, and psychological state, as well as uncertainty about the potential benefit to providing genetic risk information.

To further our understanding of utilizing a precision medicine approach in psychiatry, a series of studies were conducted to address ethical concerns related to the return of genetic feedback for substance use and psychiatric disorders. First, study one assessed interest in receiving genetic feedback for common substance use and psychiatric disorders, general understanding of complex genetic risk information for these outcomes, and factors that contribute to risk perception for developing substance use disorders. 207 participants recruited from a registry that enrolled cohorts of incoming first-year students at an urban, public university completed the study. Results indicated that interest in receiving genetic risk information for substance use and psychiatric disorders is high, but there are misunderstandings related to the role of genetic factors in these conditions.

A randomized controlled trial was conducted in a sample of college students to evaluate the efficacy of an educational tool that was developed to accompany polygenic risk score information for alcohol use disorder. Data from the randomized controlled trial aimed to evaluate the impact of the educational tool on participants’ understanding of hypothetical polygenic risk scores for alcohol use disorder, assess how beliefs regarding alcohol use disorder are influenced by educational information, and evaluate the impact of different levels of polygenic risk scores on risk perception, psychological distress, and intentions to seek additional information, talk to a healthcare provider about risk, and change drinking behavior. Finally, data collected from a longitudinal study is used to illustrate an example of integrating genetic, clinical, and environmental risk factors to predict substance use disorders. Analyses from a variety of methods demonstrate that additional research is needed to better predict individuals who are at greater risk for developing a substance use disorder. Together, these studies lay the foundation for future research to further investigate the potential use of polygenic risk scores for substance use and psychiatric disorders in clinical practice.


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Available for download on Sunday, June 13, 2027