NEW YORK – A project is underway in France that will test the feasibility and value of routine genome sequencing-based newborn screening. The effort, called Perigenomed for perinatal genomic medicine, could lead to the adoption of genomic newborn screening across France by the start of the next decade..

纽约——法国正在进行一个项目，测试基于常规基因组测序的新生儿筛查的可行性和价值。这项名为“围产期基因组医学”（Perigenomed）的工作可能会在下一个十年初推动法国采用基因组新生儿筛查。

According to Laurence Faivre, a professor of clinical genetics at Dijon University Hospital Center (CHU Dijon) who oversees the first phase of the project, investigators at CHU Dijon have already sequenced 500 babies to date using Illumina's NovaSeq X Plus instrument.

据第戎大学医院中心（CHU Dijon）临床遗传学教授劳伦斯·费弗尔称，她负责该项目的第一阶段，第戎大学医院中心的研究人员迄今已经使用Illumina的NovaSeq X Plus仪器对500名婴儿进行了测序。

Participating parents are offered to have their newborns tested for an initial list of 172 treatable diseases and disease groups, as well as a second, elective list of 218 additional actionable diseases. So far, seven children have been identified as positive for five rare diseases.

参与的父母可以选择让他们的新生儿接受最初包含172种可治疗疾病和疾病组的检测，以及第二份包含218种额外可干预疾病的选做列表。目前，已有七名儿童被发现对五种罕见疾病呈阳性。

'Perigenomed could transform newborn screening in France by introducing targeted genomic sequencing at birth, enabling the early detection of hundreds of treatable rare diseases before symptoms appear,' Faivre said. 'This would allow for truly personalized early medical intervention.'

“Perigenomed可以通过在出生时引入靶向基因组测序，从而改变法国的新生儿筛查，能够在症状出现之前早期检测出数百种可治疗的罕见疾病，”Faivre说。“这将实现真正个性化的早期医疗干预。”

Proving that utility will take time, though. In September, Perigenomed will expand to four other university hospitals in the cities of Besançon, Rennes, Nantes, and Angers, with the aim to have 2,500 newborns sequenced by early 2026. This first phase of the project, funded with €3 million ($3.5 million) in state and private financing, will test out implementation pathways for genomic newborn screening, as well as subsequent care processes.

不过，证明其效用尚需时日。今年九月，Perigenomed 将扩展到贝桑松、雷恩、南特和昂热这四个城市的其他四所大学医院，并计划在 2026 年初完成对 2,500 名新生儿的基因测序。该项目的第一阶段获得了来自政府和私人共计 300 万欧元（350 万美元）的资助，将测试新生儿基因组筛查的实施路径以及后续的护理流程。

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It will be followed by a larger, second phase that will assess the deployment of genomic newborn screening in routine care and evaluate its impact over the course of five years. This second phase will be led by Christel Thauvin, a geneticist, and Christine Binquet, a professor of public health, both at CHU Dijon.

随后将进行规模更大的第二阶段，该阶段将评估基因组新生儿筛查在常规护理中的应用，并评估其在五年内的影响。第二阶段将由遗传学家克里斯特尔·托万和公共卫生教授克里斯汀·比内特共同领导，二人均来自第戎大学医院中心 (CHU Dijon)。

It will include about 19,000 newborns from all maternity hospitals across five departments in the Bourgogne-Franche-Comté region, located in the east of France. .

它将包括来自法国东部勃艮第-弗朗什-孔泰地区五个省的所有妇产医院的约19,000名新生儿。

'We will include not only university hospitals but smaller and private hospitals to see how feasible it is,' Faivre said. This phase of the project, which has an anticipated budget of about €10 million, will also look at clinical utility, technology performance, and economic factors.

“我们不仅会包括大学医院，还会包括更小的和私立的医院，以评估其可行性如何，”法伊弗说。该项目的这一阶段预计预算约为1000万欧元，还将考量临床效用、技术性能以及经济因素。

'The idea has been to design the project to be transferable, with all of its tools, to the rest of France,' said Faivre, adding that a successful outcome would be the nationwide adoption of genomic newborn screening. She cautioned that she is unsure of when enough data will exist to convince French policymakers.

“我们的想法是设计一个可转移的项目，连同其所有工具一起推广到法国其他地区，”法伊弗说，并补充道，成功的成果将是全国范围内采用基因组新生儿筛查。她提醒道，目前尚不确定何时会有足够的数据来说服法国政策制定者。

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Considering that newborns sequenced now as part of Perigenomed will be followed for five years, no decision will likely be made before 2030, she said. Ultimately, the French Ministry of Solidarity and Health will make the call.

她说，鉴于现在作为 Perigenomed 项目的一部分进行测序的新生儿将接受五年的随访，因此很可能在 2030 年之前不会做出任何决定。最终，法国团结与卫生部将做出决定。

An early adopter

早期采用者

Dijon, a city of about 250,000 people that is known for its cuisine and architecture, might seem like an unexpected launch site for a project that might redefine newborn screening for a nation of 68 million. But according to Faivre, CHU Dijon was an early adopter of next-generation sequencing and has applied it to detect the genetic variation underlying rare diseases.

第戎，这座以美食和建筑闻名、拥有约25万人口的城市，看似不太可能成为重新定义一个6800万人口国家新生儿筛查项目的启动地。但据费弗尔称，第戎大学医院是新一代测序技术的早期采用者，并已将其应用于检测罕见病背后的基因变异。

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She noted that when next-gen sequencing emerged as a new technology, clinical geneticists in France were reluctant to adopt it in healthcare out of fear of managing incidental findings. CHU Dijon was one of the first centers to embrace the new technology. 'For years, the French genetics community did not use exome sequencing, but we did,' said Faivre.

她指出，当新一代测序技术作为一种新技术出现时，法国的临床遗传学家由于担心如何处理意外发现而对将其引入医疗保健领域持犹豫态度。第戎大学医院是最早采用该新技术的中心之一。“多年来，法国遗传学界没有使用外显子组测序，但我们用了，”福托说。

'We have had the chance to run pilot projects about applying exome sequencing in healthcare.'.

“我们已经有机会开展关于在外显子组测序在医疗保健中应用的试点项目。”

While France implemented newborn screening for certain rare diseases in the early 1970s, Faivre acknowledged that the country's cautiousness around DNA sequencing has slowed the adoption of the technology. In 2021, the path for applying sequencing in newborn screening was cleared with the passage of a revision of the country's bioethics law, which she called a 'key turning point.' As genetic testing was previously forbidden as a first-line assay for newborn screening, a study such as Perigenomed was not possible before the update of the regulation..

虽然法国在 20 世纪 70 年代初就开始对某些罕见疾病进行新生儿筛查，但 Faivre 指出，法国在 DNA 测序方面的谨慎态度减缓了该技术的采用。2021 年，随着国家生物伦理法修订案的通过，为将测序技术应用于新生儿筛查扫清了道路，她称这一事件为“关键转折点”。由于此前法规禁止将基因检测作为新生儿筛查的首选方法，因此像 Perigenomed 这样的研究在法规更新之前是不可能进行的。

Perigenomed has also participated in the International Consortium on Newborn Sequencing (ICoNS) since its inception, and Faivre

Perigenomed自成立以来也参与了国际新生儿测序联盟（ICoNS），并且Faivre

discussed the project

讨论了该项目

at the ICoNS annual conference in London

在伦敦举行的ICoNS年度会议

in 2023

2023年

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The French investigators behind Perigenomed have involved the country's active national rare disease health networks, Faivre pointed out, as well as genomic medicine stakeholders, newborn screening experts, scientific societies, social science research teams, industrial partners, and patient associations.

佩里基因组学背后的法国研究人员让该国活跃的国家罕见疾病健康网络参与其中，弗维尔指出，还包括基因组医学利益相关者、新生儿筛查专家、科学学会、社会科学研究团队、工业合作伙伴和患者协会。

Faivre herself is the head of the national health network for rare diseases, called Healthcare for Developmental Anomalies and Intellectual Disability of Rare Causes, or AnDDI-Rares. .

法维尔本人是名为“罕见病因导致的发育异常和智力障碍医疗网络”（AnDDI-Rares）的国家罕见病健康网络的负责人。

These networks and associations also helped Perigenomed to refine its gene-disease lists. Only variants in targeted genes are reported back, and variants of unknown significance are not included to avoid false positive results. The sequencing has a turnaround time of less than two weeks. The results so far — about 1 to 2 percent positives — are in line with the current literature and more or less what the investigators expected.

这些网络和协会还帮助Perigenomed完善了其基因-疾病列表。只有目标基因中的变异会被报告，且不包括意义不明的变异，以避免假阳性结果。测序的周转时间不到两周。迄今为止的结果——大约1%到2%为阳性——与当前文献一致，也大致符合研究人员的预期。

They also 'will change the way these babies are cared for,' Faivre added..

弗雷弗还补充道：“他们还将改变这些婴儿的护理方式。”

Positive results are typically reported back via a pediatrician together with a geneticist, she noted, explaining that every university center in France has a pediatrician trained in handling newborn screening.

她指出，阳性结果通常由儿科医生与遗传学家一起报告，并解释说法国每个大学中心都有一名经过新生儿筛查培训的儿科医生。

While Perigenomed is not directly involved with

虽然Perigenomed并未直接参与

Genomic Medicine France 2025

法国基因组医学2025

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a government effort to integrate genomic sequencing into healthcare

将基因组测序整合到医疗保健中的政府努力

, Faivre noted that it does align with the aims of the initiative, which is set to end this year.

，弗韦尔指出，它确实与该倡议的目标一致，该倡议将于今年结束。