Shortly after Freddie was born in April 2025, he was diagnosed with retinoblastoma(视网膜母细胞瘤), a rare form of eye cancer. It was spotted early and treated promptly(早发现早治疗), which means he has a much better chance of growing up with normal vision. That quick diagnosis was no accident. Freddie is part of the Generation Study, an English programme which plans to sequence(测序) the complete genetic code(遗传密码) of 100,000 babies. The idea is both to screen them for genetic diseases and to use the collected genomic data to boost medical research in future.(这个想法既是为了筛查遗传疾病，也是为了利用收集到的基因组数据来推动未来的医学研究。)
弗雷迪于2025年4月出生后不久，就被诊断出患有视网膜母细胞瘤，这是一种罕见的眼癌。由于发现得早并及时治疗，他长大后拥有正常视力的机会要大得多。这次快速诊断并非偶然。弗雷迪是"世代研究"项目的一员，这是一个英国项目，计划对10万名婴儿进行完整的基因测序。其理念既是为了筛查遗传疾病，也是为了利用收集到的基因组数据来推动未来的医学研究。
Similar trials are under way(正在进行) in America, Australia and parts of Europe, to test whether such screening should be offered for all newborns. Supporters hope to transform the diagnosis and treatment of rare diseases. Critics fret(担忧) that genomic sequencing may cause needless worry, and require parents to hand over sensitive data(交出敏感数据) about their children.
类似的试验正在美国、澳大利亚和欧洲部分地区进行，以测试是否应该为所有新生儿提供此类筛查。支持者希望借此改变罕见病的诊断和治疗方式。批评者则担心基因组测序可能会引起不必要的焦虑，并要求父母交出孩子的敏感数据。
Many countries screen infants for diseases already, usually by taking a blood sample and looking for marker(标志物)s of conditions such as sickle-cell anaemia(镰状细胞贫血) or cystic fibrosis(囊性纤维化). The most comprehensive(全面的) screens, such as Italy’s, look for markers of around 50 diseases. Analysing DNA rather than blood can increase that number dramatically, as well as flagging mutations that are not causing problems yet, but might in future.(分析DNA而非血液可以大幅增加这一数字，并且还能标记那些目前尚未引发问题但未来可能出现的突变。) The Generation Study is screening for around 200 conditions that arise in childhood. In America the BabySeq2 project screened for around 1,000 genes, some linked to diseases that emerge in adulthood such as breast or ovarian cancer.
许多国家已经对婴儿进行疾病筛查，通常是通过采集血样并寻找疾病标志物，如镰状细胞贫血或囊性纤维化。最全面的筛查，如意大利的筛查，可检测约50种疾病的标志物。分析DNA而非血液可以大幅增加这一数字，并且还能标记那些目前尚未引发问题但未来可能出现的突变。"世代研究"正在筛查约200种儿童期疾病。在美国，BabySeq2项目筛查了约1000个基因，其中一些与成年后出现的疾病（如乳腺癌或卵巢癌）相关。