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

Author:

Moorthy Tiahna1,Nguyen Huyen2,Chen Ying3,Austin Jehannine4ORCID,Smoller Jordan W.567,Hercher Laura8,Sabatello Maya91011ORCID

Affiliation:

1. NYC Health + Hospitals/Jacobi Medical Center Bronx NY USA

2. Mount Sinai Services New York City NY USA

3. New York State Psychiatric Institute New York City NY USA

4. Psychiatry and Medical Genetics University of British Columbia Vancouver British Columbia Canada

5. Psychiatry Harvard Medical School Boston MA USA

6. Epidemiology Harvard T.H. Chan School of Public Health Boston MA USA

7. Center for Precision Psychiatry and Psychiatric and Neurodevelopmental Genetics Unit Massachusetts General Hospital Boston MA USA

8. Sarah Lawrence College Joan H. Marks Graduate Program in Human Genetics Bronxville NY USA

9. Medical Sciences (in Medicine), Center for Precision Medicine and Genomics, Department of Medicine Columbia University New York City NY USA

10. Medical Sciences (in Medical Humanities and Ethics), Division of Ethics, Department of Medical Humanities and Ethics Columbia University New York City NY USA

11. Precision Medicine: Ethics, Politics and Culture Project Columbia University New York City NY USA

Abstract

AbstractPolygenic risk scores (PRS) are promising for identifying common variant‐related inheritance for psychiatric conditions but their integration into clinical practice depends on their clinical utility and psychiatrists' understanding of PRS. Our online survey explored these issues with 276 professionals working in psychiatric genetics (RR: 19%). Overall, participants demonstrated knowledge of how to interpret PRS results. Their performance on knowledge‐based questions was positively correlated with participants' self‐reported familiarity with PRS (r = 0.21, p = 0.0006) although differences were not statistically significant (Wald Chi‐square = 3.29, df = 1, p = 0.07). However, only 48.9% of all participants answered all knowledge questions correctly. Many participants (56.5%), especially researchers (42%), indicated having at least occasional conversations about the role of genetics in psychiatric conditions with patients and/or family members. Most participants (62.7%) indicated that PRS are not yet sufficiently robust for assessment of susceptibility to schizophrenia; most significant obstacles were low predictive power and lack of population diversity in available PRS (selected, respectively, by 53.6% and 29.3% of participants). Nevertheless, 89.8% of participants were optimistic about the use of PRS in the next 10 years, suggesting a belief that current shortcomings could be addressed. Our findings inform about the perceptions of psychiatric professionals regarding PRS and the application of PRS in psychiatry.

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

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