Recently, more than 500 genomic loci associated with various psychiatric disorders, including schizophrenia, depression, and autism spectrum disorders, have been identified. This makes it possible to generate polygenic risk scores (PRS) to stratify individuals by risk for different psychiatric disorders compared to the general population. As a prediction tool, psychiatric PRS would likely be most valuable when applied to individuals before the onset of illness. In about 75% of cases, the onset of psychiatric disorders or prodromal features occurs by early adulthood making psychiatric PRS likely most useful for children and adolescents.
PRS have the potential to improve early identification, and lead to enhanced monitoring and interventions to potentially prevent or delay onset, and minimize morbidity and risk for suicide, the second leading cause of death in the United States in ages 10–24. Despite their promise, PRS could be especially perilous in the context of psychiatry, and our preliminary work has found that PRS are already being used in child and adolescent psychiatry.
There is significant stigma around mental illness, and a history of misuse of “predictors” of “undesirable” behaviors or mental illness in the US. Thus, psychiatric PRS could be another tool used against patients with psychiatric disorders. Further, psychiatric PRS are arguably the first tool with the capacity to generate risk predictions about psychiatric disorders for any individual and there are key legal gaps in the protection of the privacy of this information and the prevention of genetic discrimination.
We will use a mixed-methods approach that includes qualitative, quantitative, and legal analysis to:
- Give voice to stakeholders (i.e., patients, parents/caregivers, clinicians) by examining their perspectives regarding whether psychiatric PRS should be used and, if so, how.
- Examine the legal and regulatory landscape to identify what safeguards may be necessary.
The long-term goal of this research is to develop ethically-justified and empirically-informed guidelines to address the ethical challenges raised by the use of psychiatric PRS with children and adolescents.
Building on our NIH-funded Child and Adolescent Psychiatric Genetics Survey (CAPGS), which examined child and adolescent psychiatrists’ perspectives about PRS (3R00HG008689-05S1).
Pereira S, Muñoz KA, Small BJ, et al. Psychiatric polygenic risk scores: Child and adolescent psychiatrists' knowledge, attitudes, and experiences. [published online ahead of print, 2022 Jul 6]. Am J Med Genet B Neuropsychiatr Genet. 2022;10.1002/ajmg.b.32912. doi:10.1002/ajmg.b.32912.