Genetic Risk Assessment in Psychiatry

精神病学中的遗传风险评估

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Abstract

Most psychiatric disorders of pediatric and adult onset are caused by a complex interplay of genetic and environmental risk factors. Risk assessment in genetic counseling is correspondingly complicated. Outside of neurodevelopmental conditions, genetic and genomic testing has not achieved clinical utility. Genetic counselors most often base risk assessment on the client's medical and family history and empiric recurrence risk data. In rare cases significant familial risk may arise from variants of large effect. New approaches such as polygenic risk scores have the potential to inform diagnosis and management of affected individuals and risk status for at-risk individuals. Research on the genetic and environmental factors that increase risk for schizophrenia and etiologically related disorders are reviewed, guidance in determining and communicating risks to families is delivered, and new opportunities and challenges that will come with translating new research findings to psychiatric risk assessment and genetic counseling are anticipated.

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