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Chunk #18 — What polygenic risk scores cannot do now

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Polygenic risk scores in psychiatry: Will they be useful for clinicians?
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• PRS does not help with genomic testing recommended as standard screening for autism and developmental disorders. The focus in this kind of testing is primarily copy number variants, for which the genomic burden is high in affected individuals 29, 30. Rare pathogenic variants are also informative and can be identified by whole exome sequencing 31. The general recommendation for clinical screening is chromosomal microarray plus Fragile X testing 32, although expansion to include PRS from GWAS and integrative genomics approaches may occur in the future 33, 34.