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When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.
Sriretnakumar, Venuja; Harripaul, Ricardo; Kennedy, James L; So, Joyce.
  • Sriretnakumar V; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.
  • Harripaul R; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.
  • Kennedy JL; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.
  • So J; Institute of Medical Science, University of Toronto, Toronto, Canada.
Am J Med Genet A ; 194(8): e63609, 2024 Aug.
Article en En | MEDLINE | ID: mdl-38532509
ABSTRACT
Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated. Moreover, despite many treatment options available, a large subset of the psychiatric patient population is nonresponsive to standard medications and therapies. There has not been a comprehensive study to date examining the burden and impact of treatable genetic disorders (TGDs) that can present with neuropsychiatric features in psychiatric patient populations. In this study, we test the hypothesis that TGDs that present with psychiatric symptoms are more prevalent within psychiatric patient populations compared to the general population by performing targeted next-generation sequencing of 129 genes associated with 108 TGDs in a cohort of 2301 psychiatric patients. In total, 48 putative affected and 180 putative carriers for TGDs were identified, with known or likely pathogenic variants in 79 genes. Despite screening for only 108 genetic disorders, this study showed a two-fold (2.09%) enrichment for genetic disorders within the psychiatric population relative to the estimated 1% cumulative prevalence of all single gene disorders globally. This strongly suggests that the prevalence of these, and most likely all, genetic diseases is greatly underestimated in psychiatric populations. Increasing awareness and ensuring accurate diagnosis of TGDs will open new avenues to targeted treatment for a subset of psychiatric patients.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Trastornos Mentales Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Año: 2024 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Trastornos Mentales Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Año: 2024 Tipo del documento: Article