ELSIcon2022 • Paper • June 1, 2022
Gabriel Lázaro-Muñoz, Eric Storch, Stacey Pereira
A growing body of research has begun to uncover the genetic architecture of psychiatric disorders such as schizophrenia, depression, and autism spectrum disorders. Identification of genomic loci associated with these disorders make it possible to generate polygenic risk scores (PRS) to estimate an individual’s genetic risk for developing psychiatric disorders. Recently, a survey with 962 child and adolescent psychiatrists (CAP) from the United States found that 14% of CAP have already encountered psychiatric PRS in their clinical practice. In most cases, it was patients or caregivers who brought psychiatric PRS to CAP. These scores are becoming increasingly easy to generate by patients and caregivers who can simply upload data generated from direct-to-consumer genetic testing companies into websites like impute.me. However, several challenges to clinical integration of psychiatric PRS were identified, including CAP self-reported poor knowledge about PRS, and concerns about how high PRS results could have negative impact on patient’s emotional well-being, lead to overtreatment of children with subthreshold signs or symptoms, and lead to genetic discrimination. In this presentation, we will report on interviews with CAP (n=30) who have encountered psychiatric PRS in the clinic. We will describe CAP’s or patient/caregivers’ motivations for generating these scores, actions CAP took, if any, based on the scores, the impact the scores had on the patient/caregivers, the contexts in which CAP would generate or recommend PRS; CAP perspectives on how PRS could be beneficial or harmful, and whether and how the generation and use of PRS should be regulated.