Recall by genotype study points to precision psychiatry path
Mount Sinai researchers used a diverse biobank to recontact people with rare psychiatric risk variants for detailed assessments.
By Priya Raghavan · Science Reporter
3 min read
A recall by genotype study led by researchers at the Icahn School of Medicine at Mount Sinai found that a large health system biobank can be used to identify and recontact people carrying rare genetic variants tied to neuropsychiatric risk. The work, published in npj Genomic Medicine, offers a practical model for precision psychiatry research.
The study used BioMe, which Mount Sinai describes as one of the nation’s largest and most diverse health care system biobanks. Such biobanks pair genomic data with electronic health records, giving researchers a way to study how genetic variants relate to disease and to invite selected participants into follow-up studies.
What is recall by genotype?
Recall by genotype means researchers identify people for a study because their genetic data show a variant of interest, then contact them for additional testing or assessment. In this case, the variants were rare copy number variants, or CNVs, that substantially raise the risk of neurodevelopmental disorders, according to Mount Sinai.
CNVs are genetic changes involving deleted or duplicated stretches of DNA. The Mount Sinai team focused on rare CNVs associated with autism spectrum disorder, intellectual disability and schizophrenia.
How the Mount Sinai study worked
Researchers recontacted 892 BioMe participants. The group included 335 people carrying the rare CNVs, 217 people with schizophrenia who did not carry those variants and 340 neurotypical controls.
According to the study, 18% of those contacted responded to recruitment efforts. Eight percent completed full psychiatric and cognitive assessments.
The final cohort reflected the mix of participants in the BioMe biobank, the researchers reported. Among those who completed the study, 37% self-identified as having African ancestry, 34% as having Hispanic ancestry and 26% as having European ancestry.
The assessments gathered information that routine electronic health records did not capture. Mount Sinai said the evaluations revealed developmental, clinical and cognitive characteristics beyond what was available in EHR data, showing why direct phenotyping can add value in psychiatric genetics research.
Why the findings matter for precision psychiatry
The study sets operating benchmarks for using recall by genotype in a diverse health care system, including how often participants may respond and complete testing. Those numbers may help researchers design future studies that use clinical biobanks to find people with genetic variants relevant to brain health.
Mount Sinai said the approach could help translate psychiatric risk variants into clinical research and support more personalized approaches to diagnosis, patient grouping and targeted treatments. The findings do not report a new treatment; they describe a way to recruit and study people whose genetic profiles may help clarify psychiatric risk.
Rebecca Birnbaum, assistant professor of psychiatry and genetics and genomic sciences at Icahn School of Medicine at Mount Sinai and senior author of the paper, said clinical biobanks are valuable not only for genetic discovery but also for clinical research. She said recontacting participants with rare CNVs showed both the opportunities and the challenges of using recall by genotype in a large, diverse health care system biobank.
The paper is titled “Recall-by-genotype of neurodevelopmental disorder copy number variants in a multi-ancestry, healthcare-system biobank.” The listed DOI is 10.1038/s41525-026-00597-6.
This story draws on original reporting from Medical Xpress.