Genome-wide sequencing (exome and whole genome) has transformed our ability to diagnose patients with suspected genetic disorders. Cerebral palsy (CP), although historically thought to be due to birth injury (perinatal hypoxia), represents a clinical spectrum of disorders, many of which have been attributed to a genetic cause. GWS has elucidated the underlying single gene cause for many patients with CP and has important implications for the customization of treatment, management, and genetic counseling.

International guidelines recommend genetic counseling for all families considering genome-wide sequencing. Genetic counselors educate and support families and help them to make testing decisions based on their values. They can help families adapt to, and understand the implications of a genomic diagnosis. Here, we review advances in sequencing for CP, clinical features suggestive of a genetic etiology of CP, practice guidelines for GWS, and a practical approach to the genetic counseling of these families. This includes: the content to be addressed in pre-test and post-test genetic counseling sessions, the benefits of a establishing a genetic cause and importantly, the need for ongoing support.

全基因组测序（外显子组和全基因组）改变了我们诊断疑似遗传病患者的能力。脑瘫 (CP)，虽然历史上被认为是由于出生损伤（围产期缺氧）引起的，但它代表了一系列临床疾病，其中许多归因于遗传原因。GWS 阐明了许多 CP 患者潜在的单基因病因，对定制治疗、管理和遗传咨询具有重要意义。

国际指南建议对所有考虑全基因组测序的家庭进行遗传咨询。遗传咨询师教育和支持家庭，帮助他们根据自己的价值观做出检测决定。他们可以帮助家庭适应并了解基因组诊断的意义。在这里，我们回顾了 CP 测序的进展、提示 CP 遗传病因的临床特征、GWS 实践指南以及这些家庭遗传咨询的实用方法。这包括：测试前和测试后遗传咨询课程中要解决的内容、确定遗传原因的好处以及重要的是，需要持续支持。