Developmental brain disorders (DBD), including autism spectrum disorder, intellectual disability, and schizophrenia, are clinically defined and etiologically heterogeneous conditions with a wide range of outcomes. Rare pathogenic copy number and single nucleotide genomic variants are among the most common known etiologies, with diagnostic yields approaching for some DBD cohorts. Incorporating genetic testing into the care of adult patients with DBD, paired with targeted genetic counseling and family cascade testing, may increase self-advocacy and decrease stigma. In the long-term, breakthroughs in the understanding of DBD pathophysiology will hinge on the identification, engagement, and study of individuals with rare genetic DBD etiologies, consistent with successful precision medicine approaches to the treatment of cancer and cardiovascular disease.

发育性脑部疾病 (DBD)，包括自闭症谱系障碍、智力障碍和精神分裂症，是临床上定义的、病因学异质性的疾病，具有多种结果。罕见的致病性拷贝数和单核苷酸基因组变异是最常见的已知病因之一，某些 DBD 群体的诊断率已接近这一水平。将基因检测纳入成年 DBD 患者的护理中，再加上有针对性的遗传咨询和家庭级联检测，可能会增加自我宣传并减少耻辱感。从长远来看，对 DBD 病理生理学理解的突破将取决于对具有罕见遗传性 DBD 病因的个体的识别、参与和研究，这与治疗癌症和心血管疾病的成功的精准医学方法是一致的。