Our very own Dr. Aaron Besterman led one of the largest meta-analyses to date of genetic testing in schizophrenia. Results analyzed from 31 studies, representing more than 20,000 participants, found that modern genetic testing, including chromosomal microarray and exome or genome sequencing, identified a clinically significant genetic explanation for schizophrenia in about 6% of patients, or roughly 1 in 16 individuals. An early age of onset and the presence of co-occurring neurodevelopmental disorders were associated with a higher likelihood of identifying a genetic explanation. When a genetic explanation is identified, it may help inform clinical management and guide family decision-making. These findings primarily reflect rare, higher-impact genetic variants detectable through current clinical testing. However, a much larger proportion of schizophrenia risk is thought to arise from the combined effects of many common genetic variants, which are not captured by standard clinical tests.
At the same time, the authors identified important gaps in the existing evidence relevant to community mental health settings. Most published studies were conducted in a limited number of regions, with no data from Latin America, South Asia, or Africa, raising concerns about how well findings generalize across diverse populations. The authors also note that genetic testing has been adopted more slowly in schizophrenia than in other areas of medicine. Patient access to potentially beneficial information can contribute to ongoing health disparities.
“For a condition as complex as schizophrenia, genetics will never provide all the answers—but this study shows that for a meaningful subset of patients, modern genetic testing can offer clinically useful information, said Dr. Besterman. “The challenge now is ensuring these tools are used thoughtfully and equitably in real-world mental health settings and that mental health clinicians understand who to meaningfully leverage genetics to support their patients.” In an accompanying commentary, experts note that these findings provide an important foundation for future research and clinical integration of genetic testing in schizophrenia.
The full article can be read in Biological Psychiatry: https://www.biologicalpsychiatryjournal.com/article/S0006-3223(25)01485-4/fulltext