Peay Holly Landrum
Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina 27703, USA.
Cold Spring Harb Perspect Med. 2020 Dec 1;10(12):a036616. doi: 10.1101/cshperspect.a036616.
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.
大多数儿童期和成人期起病的精神障碍是由遗传和环境风险因素的复杂相互作用引起的。因此,遗传咨询中的风险评估相应地较为复杂。除了神经发育疾病外,基因和基因组检测尚未达到临床应用水平。遗传咨询师通常根据客户的病史和家族史以及经验性复发风险数据进行风险评估。在极少数情况下,显著的家族风险可能源于具有较大效应的变异。多基因风险评分等新方法有可能为受影响个体的诊断和管理以及高危个体的风险状况提供信息。本文综述了增加精神分裂症及病因相关疾病风险的遗传和环境因素的研究,提供了确定向家庭传达风险的指导,并预期了将新研究结果转化为精神疾病风险评估和遗传咨询所带来的新机遇和挑战。