The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition. However, making a molecular diagnosis with current technologies and knowledge is often still a challenge. Paediatric genomics is an immature but rapidly evolving field that tackles this issue by incorporating next-generation sequencing technologies, especially whole-exome sequencing and whole-genome sequencing, into research and clinical workflows. This complex multidisciplinary approach, coupled with the increasing availability of population genetic variation data, has already resulted in an increased discovery rate of causative genes and in improved diagnosis of rare paediatric disease. Importantly, for affected families, a better understanding of the genetic basis of rare disease translates to more accurate prognosis, management, surveillance and genetic advice; stimulates research into new therapies; and enables provision of better support.

大多数罕见疾病会影响儿童，其中大多数是儿童的潜在遗传原因。然而，利用当前的技术和知识进行分子诊断通常仍然是一个挑战。儿科基因组学是一个不成熟但发展迅速的领域，它通过将下一代测序技术（尤其是全外显子组测序和全基因组测序）纳入研究和临床工作流程来解决这一问题。这种复杂的多学科方法，再加上群体遗传变异数据的日益增加，已经导致致病基因的发现率提高，罕见儿科疾病的诊断得到改善。重要的是，对于受影响的家庭，更好地了解罕见病的遗传基础可以转化为更准确的预后，管理，监测和遗传咨询；促进对新疗法的研究；并提供更好的支持。