The role of genetic testing in the domain of neurodevelopmental and psychiatric disorders (NPDs) is gradually changing from providing etiological explanation for the presence of NPD phenotypes to also identifying young individuals at high risk of developing NPDs before their clinical manifestation. In clinical practice, the latter implies a shift towards the availability of individual genetic information predicting a certain liability to develop an NPD (e.g., autism, intellectual disability, psychosis etc.). The shift from mostly a posteriori explanation to increasingly a priori risk prediction is the by-product of the systematic implementation of whole exome or genome sequencing as part of routine diagnostic work-ups during the neonatal and prenatal periods. This rapid uptake of genetic testing early in development has far-reaching consequences for psychiatry: Whereas until recently individuals would come to medical attention because of signs of abnormal developmental and/or behavioral symptoms, increasingly, individuals are presented based on genetic liability for NPD outcomes before NPD symptoms emerge. This novel clinical scenario, while challenging, also creates opportunities for research on prevention interventions and precision medicine approaches. Here, we review why optimization of individual risk prediction is a key prerequisite for precision medicine in the sphere of NPDs, as well as the technological and statistical methods required to achieve this ambition.

基因检测在神经发育和精神疾病 （NPD） 领域的作用正在逐渐改变，从为 NPD 表型的存在提供病因解释，转变为在临床表现之前识别患 NPD 高风险的年轻人。在临床实践中，后者意味着转向预测发展 NPD 的某种倾向（例如，自闭症、智力障碍、精神病等）的个体遗传信息的可用性。从主要是后验解释到越来越先验的风险预测的转变是系统实施全外显子组或基因组测序的副产品，作为新生儿和产前时期常规诊断检查的一部分。这种在发育早期快速接受基因检测对精神病学产生了深远的影响：直到最近，个体才会因为异常发育和/或行为症状的迹象而就医，而越来越多的个体在 NPD 症状出现之前就根据 NPD 结果的遗传易感性出现。这种新颖的临床情景虽然具有挑战性，但也为预防干预和精准医学方法的研究创造了机会。在这里，我们回顾了为什么优化个体风险预测是 NPD 领域精准医疗的关键先决条件，以及实现这一雄心所需的技术和统计方法。