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Date of Award

5-2021

Document Type

Thesis - Campus Access Only

Degree Name

MS in Human Genetics

First Advisor

Maya Sabatello

Second Advisor

Laura Hercher

Abstract

Psychiatric disorders are one of the main causes of disability worldwide(World Health Organization, 2008). However, detection, risk assessment, and treatment of these conditions can be challenging due to their multifactorial nature. Polygenic Risk Scores (PRS)appear to be a promising predictive tool with the ability to capture common variant-related inheritance,and ongoing discussions contemplate the possibility of integrating PRS into clinical practice. The success of such efforts would largely depend on psychiatrists’ understanding of PRS and their potential for clinical use.Our study aimed to evaluate the opinions of professionals working in the field of psychiatric genetics on their familiarity with PRS and its current and future clinical utility. A survey with primarily multiple-choice and knowledge-based questions was distributed to members of the International Society of Psychiatric Genetics (ISPG), a group projected to be knowledgeable about PRS and the genetic architecture of psychiatric disease.We hypothesized that the majority of respondents would be skeptical of the current clinical utility of PRS and ambivalent about its future potential. The general consensus among respondents was that PRS are not yet sufficiently robust for assessment of susceptibility for schizophrenia, with the low predictive power and lack of population diversity in such models described most frequently as the main obstacles.Nevertheless, the majority of survey participants were optimistic about the use of PRS in the next 10 years, suggesting that they believed current shortcomings could be addressed. Participants were overall less familiar about the potential societal, familial and public health implications of PRS in schizophrenia, therefore related educational initiatives would be valuable. Findings from this study shed light on the perceptions of psychiatric professionals with regard to PRS and could potentially allow for the establishment of guidelines that would advance and protect the interests of patients with psychiatric diseases and their families.

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