Psychiatric polygenic risk scores: Child and adolescent psychiatrists' knowledge, attitudes, and experiences

Abstract

Psychiatric polygenic risk scores (PRS) have potential utility in psychiatric care and prevention, but there are concerns about their implementation. We surveyed 960 US-based practicing child and adolescent psychiatrists' (CAP) about their experiences, perspectives, and potential uses of psychiatric PRS. While 23% of CAP reported that they had never heard of PRS, 10 % of respondents have had a patient/ family bring PRS to them and 4% have generated PRS for patients. Though 25% stated they would request PRS if a patient/caregiver asked, 35% indicated that nothing would prompt them to request PRS. Most respondents (54%) believed psychiatric PRS are currently at least slightly useful and 87% believed they will be so in 5 years.More than 70% indicated they would take action in response to a child with a top fifth percentile psychiatric PRS but no diagnosis: 48% would increase monitoring of symptoms, 42% would evaluate for current symptoms, and 4% would prescribe medications. Yet, most respondents were concerned that high-PRS results could lead to overtreatment and negatively impact patients' emotional well-being. Findings indicate emerging use of psychiatric PRS within child and adolescent psychiatry in the US. It is critical to examine the ethical and clinical challenges that PRS may generate and begin efforts to promote their informed and responsible use.

How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia?

“…Those with self‐reported “expert” familiarity with PRS were 12% more likely to answer more knowledge‐based questions correctly compared to participants who self‐reported being unfamiliar with PRS. These results parallel findings from a 2022 study that found weak correlation between self‐rated knowledge of PRS and correct interpretation of PRS scores from the same graph utilized in our study (overall, only 26.8% of participants in that study were correct in their interpretations [Pereira et al, 2022]). In addition, most participants in our survey reported that they regularly discussed the role of genetics in the development and prognosis of psychiatric conditions with patients and family members.…”

“…Possible explanations include concerns about the child's autonomy, decision‐making options, and lack of available interventions (Sabatello et al, 2021). Furthermore, child and adolescent psychiatrists believe that using PRS in pediatric settings could result in excessive treatment (Pereira et al, 2022).…”

“…Our work adds to an ongoing discussion on the future utility of PRS. Even child and adolescent psychiatrists agree that PRS will be at least slightly useful in 5 years (Pereira et al, 2022).…”

Child and Adolescent Psychiatrists’ Use, Attitudes, and Understanding of Genetic Tests in Clinical Practice

“…Survey methods have been previously described. 27 Briefly, a 47-question survey was developed to assess CAP current practice, knowledge, and perceptions toward genetic testing based on current literature with input from an expert panel consisting of CAP, psychologists, genetic counselors, bioethicists, lawyers, and an anthropologist using a modified Delphi method 28 . The survey included three sections: general (diagnostic) genetic testing, PGx testing, and polygenic risk scores.…”

“…Questions about the current use of general genetic testing and PGx testing were used to learn about CAP knowledge, experience, opinions on current and potential future utility, and concerns and appropriateness of PGx testing. For results on knowledge and perceptions of the utility of genetic testing in the evaluation of ASD, see Soda et al 15 , and for results related to polygenic risk scores, see Pereira et al 27 . The survey is found as supplementary file 1.…”