Associations Between Polygenic Risk Score Loading, Psychosis Liability, and Clozapine Use Among Individuals With Schizophrenia.
Bochao D Lin et al. JAMA psychiatry 2022 12 (2) 181-185
Are polygenic risk scores for schizophrenia (PRS-SCZ) associated with a psychosis liability spectrum and a clinician’s decision to prescribe clozapine?
In this genetic association study with 2344 participants from 2 cohorts, we found that PRS-SCZ loading was highest among individuals with schizophrenia spectrum disorders taking clozapine, followed by those taking other antipsychotics, their relatives, and unrelated healthy controls. In addition, PRS-SCZ was positively associated with a clozapine prescription relative to other antipsychotics.
The controversial embryo tests that promise a better baby Some companies offer tests that rank embryos based on their risk of developing complex diseases such as schizophrenia or heart disease. Are they accurate — or ethical?
M Koslov, Nature, September 21, 2022
Pre-implantation genetic testing (PGT) for rare genetic disorders and chromosomal abnormalities has become common practice in the US$14-billion IVF industry. But testing for polygenic conditions (often referred to as PGT-P) is much newer, with only a small handful of companies selling it in a few countries, including the United States and Brazil, where it is largely unregulated.
Diverse mutations in autism-related genes and their expression in the developing brain
Nature Genetics, August 18, 2022
Across >150,000 individuals, we identified hundreds of genes associated with autism spectrum disorder (ASD) and atypical neurodevelopment. Most ASD-related genes were also associated with developmental delay. However, increased mutation rates in ASD and shared genetic risk with schizophrenia was observed for some genes, many of which are enriched in developing neurons.
Ultrarare Coding Variants and Cognitive Function in Schizophrenia—Unraveling the Enduring Mysteries of Neuropsychiatric Genetics
DL Braff et al, JAMA Psychiatry, August 17, 2022
For neuropsychiatric genomics the big picture is that we are looking at a spectrum of common and rare (and ultrarare) variations to understand a whole-brain disorder that seems to involve a complex tapestry encompassing both cortical and subcortical dysfunctions. Synthesizing these findings into a coherent functional neurobiological model of schizophrenia will be our formative challenge.