The second edition of the NUHS Scientific and Innovation Summit underscores how data and genetic insight is transforming health, with launch of the National University Centre for Genomic Medicine a major transformative step in bringing genomics to clinical care

新加坡国立大学健康科学系统第二届科学与创新峰会强调了数据和基因洞察如何改变健康领域，而新加坡国立大学基因组医学中心的成立是将基因组学引入临床护理的重大变革性一步。

SINGAPORE

新加坡

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，

April 2, 2026

2026年4月2日

/PRNewswire/ -- The National University Health System (NUHS) today showcased how advances in genomics, data science and digital health are accelerating Singapore's shift towards predictive, personalised and precise healthcare at the cluster's biennial

/PRNewswire/ -- 新加坡国立大学卫生系统（NUHS）今天展示了基因组学、数据科学和数字健康领域的进步如何加速新加坡向预测性、个性化和精准医疗的转变，这是该集团两年一度的活动。

Scientific and Innovation Summit

科技创新峰会

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The launch of the National University Centre for Genomic Medicine (NUGEM) was officiated by Mr Heng Swee Keat, Chairman of the National Research Foundation, at the NUHS Scientific and Innovation Summit 2026. The new Centre marks a major step in NUHS’s effort to embed genomics into everyday care.

新加坡国立大学基因组医学中心（NUGEM）的成立仪式由新加坡国立研究基金会主席王瑞杰先生在2026年NUHS科学与创新峰会上正式主持。该新中心标志着NUHS在将基因组学融入日常医疗的努力中迈出了重要一步。

Photo credit: NUHS.

照片来源：NUHS。

The Summit brought together clinicians, scientists and healthcare leaders across various disciplines to demonstrate how health is being reimagined – by detecting health risks earlier, tailoring interventions more precisely, and ensuring safer, more effective care for patients and the population at large..

峰会汇集了各个学科的临床医生、科学家和医疗保健领导者，展示如何通过更早发现健康风险、更精确地调整干预措施，以及确保为患者和广大民众提供更安全、更有效的护理来重新构想健康。

A key highlight of the Summit was the launch of the

峰会的一个重要亮点是启动了

National University Centre for Genomic Medicine (NUGEM)

国立大学基因组医学中心 (NUGEM)

, marking a major step in NUHS's effort to embed genomics into everyday care. This will strengthen early diagnosis, enabling tailored therapies, and ensuring safer, more precise prescribing across the health system.

，标志着NUHS在将基因组学融入日常医疗的努力中迈出了重要一步。这将加强早期诊断，实现个性化治疗，并确保在整个医疗系统中更安全、更精确的处方。

'From public health experts modelling risk trajectories using population data across the life course, to digital health teams advancing digital‑first preventive care through wearables and real‑time monitoring, the Summit is highlighting how proactive, data‑driven insights are closing care gaps between hospital visits and enabling earlier action,' said Professor Roger Foo, Co-Chair of the NUHS Scientific and Innovation Summit Organising Committee..

“从公共卫生专家使用生命历程中的人口数据建模风险轨迹，到数字健康团队通过可穿戴设备和实时监测推进数字化预防性护理，此次峰会强调了积极主动、数据驱动的洞察如何在医院就诊之间填补护理空白并实现更早的干预，”新加坡国立大学卫生系统科学与创新峰会组织委员会联合主席傅罗杰教授表示。

Clinicians and scientists also showcased breakthroughs in reshaping precision diagnosis and treatment. Oral frailty studies, for example, are revealing how oral health signals systemic health and opens the door to personalised care. Pathogen genome sequencing research by infectious diseases experts also helps to uncover hidden transmission patterns and cut diagnostic time more than fivefold to just 24 hours, strengthening infection containment efforts.

临床医生和科学家还展示了重塑精准诊断和治疗的突破性进展。例如，口腔脆弱性研究揭示了口腔健康如何反映全身健康，并开启了个性化护理的大门。传染病专家的病原体基因组测序研究还有助于揭示隐藏的传播模式，将诊断时间缩短五倍以上，仅需24小时，从而加强了感染控制工作。

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(Please see Annex A for more information on the above projects.)

（有关上述项目的更多信息，请参见附件A。）

Bringing genomics into everyday care

将基因组学融入日常护理

Officiated by Mr Heng Swee Keat, Chairman of the National Research Foundation, the launch of the new Centre brings together NUHS's expertise across different specialties such as oncology, cardiology, nephrology, ophthalmology, neurology, infectious diseases and more, expanding genomics testing beyond rare paediatric conditions..

由国立研究基金会主席王瑞杰先生主持的新中心启动仪式，汇集了NUHS在肿瘤学、心脏病学、肾病学、眼科、神经学、传染病等不同领域的专业知识，将基因组学检测扩展到罕见的儿科疾病以外。

Situated within the National University Hospital (NUH), NUGEM will be led by a multidisciplinary team comprising experts from NUH – including those from the National University Centre for Women and Children (NUWoC) – the Ng Teng Fong General Hospital (NTFGH), the Alexandra Hospital (AH), the National University Polyclinics (NUP), the National University Cancer Institute, Singapore (NCIS), the National University Heart Centre, Singapore (NUHCS), and researchers from the Yong Loo Lin School of Medicine, National University of Singapore (NUS Medicine)..

新加坡国立大学医院（NUH）内的NUGEM将由一个多学科团队领导，该团队包括来自NUH的专家——包括新加坡国立大学妇女儿童中心（NUWoC）、黄廷芳综合医院（NTFGH）、亚历山大医院（AH）、新加坡国立大学综合诊疗所（NUP）、新加坡国立癌症中心（NCIS）、新加坡国立大学心脏中心（NUHCS），以及新加坡国立大学杨潞龄医学院（NUS Medicine）的研究人员。

Across NUHS, genomics testing is already supporting care across multiple settings, including primary care, prenatal care, intensive care units (ICUs), cancer treatment and rare disease diagnosis. Earlier genetic diagnosis will lead to personalised surveillance regimes, help avoid diagnostic odysseys and unnecessary investigations, and enable targeted treatments and proactive family screening, contributing to better outcomes for patients..

在 NUHS 内，基因组学检测已经在多种环境中支持护理工作，包括初级护理、产前护理、重症监护室 (ICU)、癌症治疗和罕见病诊断。更早的基因诊断将促成个性化的监测方案，帮助避免漫长的诊断过程和不必要的检查，并实现靶向治疗和积极的家庭筛查，从而为患者带来更好的结果。

Supported by NUS researchers, new tests will be innovated so that patients who remain undiagnosed or have ambiguous genetic results can be clarified. This will bring new genomic tests to clinical labs, new insights into disease mechanisms, and identify potential new therapeutic targets.

在新加坡国立大学研究人员的支持下，将创新新的测试方法，以便对那些仍未确诊或基因结果不明确的患者进行澄清。这将会把新的基因组测试带入临床实验室，带来对疾病机制的新见解，并确定潜在的新治疗靶点。

'NUGEM is about transformation. It transforms the way we think about genomics in clinical care across the entire NUHS workforce, leveraging the strong foundations we have in digital and research ecosystems,' said Associate Professor Ng Kar Hui, Director of NUGEM.

“NUGEM关乎转型。它改变了我们对整个NUHS员工队伍在临床护理中基因组学的思考方式，利用了我们在数字和研究生态系统中的坚实基础，”NUGEM主任Ng Kar Hui副教授表示。

'NUGEM is an enabler that brings genomics from the specialist pockets into routine care. This process will take time, but the first step is taken today: ensuring genomic insights occur where care happens, so decisions can be made faster, safer and more precise.'

“NUGEM 是一个推动者，它将基因组学从专业领域带入常规医疗。这一过程需要时间，但第一步已经在今天迈出：确保基因组学见解在医疗发生的地方产生，从而能够更快、更安全、更精准地做出决策。”

Hope made tangible

希望变得具体

At NUHS, genomics is already making a real difference in the lives of patients by supporting them through various critical and deeply personal decisions. Each story reflects how genetic insights can change a patient's trajectory or offer clarity, certainty and hope when it matters most.

在新加坡国立大学医院（NUHS），基因组学已经在通过支持患者做出各种关键且高度个人化的决策，切实改变着他们的生活。每个故事都反映了基因洞察如何在最重要的时刻改变患者的命运，或为其提供清晰、确定性和希望。

(Please refer to 'Genomics in action: Patient profiles' for more information on each case.)

（欲了解每个病例的更多信息，请参阅“基因组学在行动：患者概况”。）

Life

生命

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saving diagnosis and treatment in fulminant infection:

暴发性感染的诊治：

Immunologic and genetic testing in the ICU uncovered a new immune defect affecting pathogen-killing in a young woman who was critically ill with a severe bacterial infection and had been non-responsive to conventional treatment over five weeks. The discovery enabled doctors to administer targeted immune-augmenting therapy that brought her off life support in days, and she has since recovered..

重症监护室中的免疫和基因检测发现了一名年轻女性的新免疫缺陷，她因严重细菌感染而病危，并且五周内对常规治疗无反应。这一发现使医生能够实施针对性的免疫增强疗法，几天内就让她脱离了生命支持，此后她逐渐康复。

Supporting patients across their life course:

支持患者在整个生命历程中：

A newly married young woman diagnosed with neonatal diabetes as a baby underwent updated genetic testing to confirm the gene variant she carried, enabling her and her husband to undergo in-vitro fertilisation (IVF) with pre-implantation genetic testing (PGT‑M

一名新婚年轻女性在婴儿时期被诊断出患有新生儿糖尿病，她接受了最新的基因检测以确认自己携带的基因变异，这使得她和丈夫能够通过体外受精（IVF）结合胚胎植入前遗传学检测（PGT-M）来生育。

[1]

[1]

). She welcomed a healthy baby girl in 2025.

`). 她在2025年迎来了一个健康的女婴。`

Uncovering a hidden risk:

揭示一个隐藏的风险：

Genetic testing revealed a serious inherited kidney condition in an otherwise healthy mother after her first child was diagnosed at birth. With this knowledge, she was able to undergo IVF with PGT-M for her second pregnancy. She later welcomed a second child who does not carry the condition.

基因检测揭示了一位健康母亲患有严重的遗传性肾脏疾病，此前她的第一个孩子在出生时就被诊断出该病。得知这一情况后，她通过IVF和PGT-M技术进行了第二次怀孕。之后，她顺利迎来了一个没有遗传该病的第二个孩子。

Ending a diagnostic odyssey:

结束诊断的漫长旅程：

After years without answers, new genetic testing technology may soon help a young man with suspected Alport syndrome – a hereditary kidney condition that can cause kidney failure and hearing loss – secure a definitive diagnosis. This will help guide treatment and clarify prognosis without the need for more unnecessary and painful tests, such as a kidney biopsy..

多年未果，新的基因检测技术或许很快就能帮助一名疑似患有阿尔波特综合症（一种可导致肾衰竭和听力丧失的遗传性肾病）的年轻人获得明确诊断。这将有助于指导治疗并明确预后，而无需进行更多不必要的痛苦测试，例如肾活检。

Making medicines safer

使药品更安全

Another focus at NUHS is pharmacogenomics, which uses a patient's genetic profile to guide medication choice and dosage, helping doctors to prescribe more safely and effectively. With over 99 per cent of local patients carrying variants that influence drug response, early identification of these variants can help doctors avoid adverse drug reactions and ensure patients receive medications that are most effective for them.

新加坡国立大学医院的另一个重点是药物基因组学，它利用患者的基因图谱来指导药物的选择和剂量，帮助医生更安全有效地开药。由于超过99%的本地患者携带影响药物反应的变异，及早识别这些变异可以帮助医生避免不良药物反应，并确保患者获得对他们最有效的药物。

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NUGEM plans to expand pre‑emptive pharmacogenomic panel testing so that genetic insights can inform prescribing decisions before treatment begins. More than 2,000 patients have undergone pharmacogenomics testing at NUHS, with plans to scale towards preventive, population‑level use.

NUGEM 计划扩大先发制人的药物基因组学面板测试，以便在治疗开始前，基因洞察可以为处方决策提供信息。在 NUHS，已有 2000 多名患者接受了药物基因组学测试，并计划朝着预防性、人群水平的使用扩展。

Bringing better insights to the patients

为患者带来更好的见解

Within the next two decades, it is estimated that one‑third of clinic encounters across NUHS may involve conversations around genomics or precision medicine. NUGEM is the bridge that transforms and conveys the genomic or precision medicine insights from research and Singapore's National Precision Medicine Programme to the patients and families..

在未来二十年内，据估计NUHS内的三分之一诊所会诊可能涉及围绕基因组学或精准医学的对话。NUGEM是将基因组学或精准医学的研究成果以及新加坡国家精准医学计划中的洞察转化为临床应用，并传递给患者及其家属的重要桥梁。

Beyond genomics, the Summit also highlighted NUHS's broader ecosystem of innovation, spanning population health research, digital preventive care, antimicrobial stewardship, ageing science and precision diagnostics.

除了基因组学，峰会还突显了NUHS更广泛的创新生态系统，涵盖人口健康研究、数字预防保健、抗菌药物管理、老龄化科学和精准诊断。

'Behind every project shared at the Summit is a patient whose life can be changed for the better. As we scale genomics and other emerging tools across our system, our goal remains simple: to give every person the right care at the right time, guided by the best possible insight,' said Associate Professor David Tan, Co-Chair of the NUHS Scientific and Innovation Summit Organising .

“在峰会分享的每一个项目背后，都有一位患者的生活可以得到更好的改变。随着我们在整个系统中推广基因组学和其他新兴工具，我们的目标依然简单：在最佳洞察力的指导下，为每个人提供在正确的时间给予正确的护理。” 新加坡国立大学健康系统科学与创新峰会组织委员会联合主席、副教授陈大卫表示。

Committee.

委员会。

About

关于

the National University Health System (NUHS)

新加坡国立大学卫生系统 (NUHS)

The National University Health System (NUHS) aims to transform how illness is prevented and managed by discovering causes of disease, development of more effective treatments through collaborative multidisciplinary research and clinical trials, and creation of better technologies and care delivery systems in partnership with others who share the same values and vision..

新加坡国立大学卫生系统 (NUHS) 致力于通过发现疾病成因、通过协作的多学科研究和临床试验开发更有效的治疗方法，以及与志同道合的伙伴合作创造更好的技术和护理交付系统，来改变疾病的预防和管理方式。

Institutions in the NUHS Group include the National University Hospital, Ng Teng Fong General Hospital, Jurong Community Hospital and Alexandra Hospital; three National Specialty Centres – National University Cancer Institute, Singapore (NCIS), National University Heart Centre, Singapore (NUHCS) and National University Centre for Oral Health, Singapore (NUCOHS); the National University Polyclinics (NUP); Jurong Medical Centre; and three NUS health sciences schools – NUS Yong Loo Lin School of Medicine (including the Alice Lee Centre for Nursing Studies), NUS Faculty of Dentistry and NUS Saw Swee Hock School of Public Health..

国立大学医院系统（NUHS）集团的机构包括国立大学医院、黄廷芳综合医院、裕廊社区医院和亚历山大医院；三个国家专科中心——新加坡国立大学癌症研究所（NCIS）、新加坡国立大学心脏中心（NUHCS）和新加坡国立大学口腔健康中心（NUCOHS）；国立大学综合诊疗所（NUP）；裕廊医疗中心；以及三所新加坡国立大学健康科学学院——新加坡国立大学杨潞龄医学院（包括Alice Lee护理研究中心）、新加坡国立大学牙科学院和新加坡国立大学苏瑞福公共卫生学院。

With member institutions under a common governance structure, NUHS creates synergies for the advancement of health by integrating patient care, health science education and biomedical research.

在共同的治理结构下，拥有成员机构的国立大学健康系统通过整合患者护理、健康科学教育和生物医学研究，为医疗进步创造协同效应。

As a Regional Health System, NUHS works closely with health and social care partners across Singapore to develop and implement programmes that contribute to a healthy and engaged population in the Western part of Singapore.

作为一家区域卫生系统，NUHS与新加坡各地的健康和社会护理合作伙伴密切合作，开发并实施有助于新加坡西部地区人口健康且积极参与的项目。

For more information, please visit

欲了解更多信息，请访问

www.nuhs.edu.sg

www.nuhs.edu.sg

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Annex A – Featured projects at the NUHS Scientific and Innovation Summit

附录A - 新加坡国立大学医院科学与创新峰会的特色项目

Project name

项目名称

About the project

关于项目

Quote

引用

ACTIVATION – Precision Preventive Health at a Population Scale: Leveraging Wearables, Behavioural and Personality Phenotyping

激活——大规模人群的精准预防健康：利用可穿戴设备、行为和人格特征分析

Digital-first preventive care integrating wearables and real-time data

数字优先的预防性护理，整合可穿戴设备和实时数据

Digital health coaching provides timely guidance and behavioral support

数字健康辅导提供及时的指导和行为支持

Bridging care gaps between visits for earlier, more precise action

在就诊之间弥合护理差距，以便更早、更精准地采取行动

30 per cent of hidden conditions uncovered

30％的隐藏条件被揭露

Validated through a robust three-arm randomised controlled trial (RCT) design

通过强有力的三臂随机对照试验（RCT）设计验证

'We are able to pull different schools of data and track it over time. When risks are identified earlier, care can be more predictive, more precise, and more personalised.'

“我们能够收集不同学派的数据并进行长期跟踪。当风险被及早识别时，护理可以更具预测性、更精确且更加个性化。”

- Dr Alexander Yip, Alexandra Hospital

- 黄亚烈医生，亚历山德拉医院

Antimicrobial Stewardship (ASP) & Primary Care

抗菌药物管理（ASP）与初级保健

System-driven primary care prescribing guided by academic evidence

系统驱动的基于学术证据的初级医疗处方指导

86 per cent appropriateness in guideline adherence

指南遵守的适当性为86％

'Antibiotic resistance is one of the toughest challenges facing humankind today.

“抗生素耐药性是当今人类面临的最严峻挑战之一。

Antimicrobial resistance is accelerating globally – how we prescribe today directly shapes what treatments remain effective tomorrow.'

抗菌药物耐药性正在全球范围内加速发展——我们今天的处方方式直接影响着明天哪些治疗仍然有效。

- Dr Sky Koh, National University Polyclinics and NUS Yong Loo Lin School of Medicine

- 高云霄博士，国立大学综合诊疗所及新加坡国立大学杨潞龄医学院

Bioinformatics: Whole Genome Sequencing of Pathogens and the Microbiome

生物信息学：病原体和微生物组的全基因组测序

Broad-range detection from a single sample

单个样本的广范围检测

Five times faster diagnosis, strengthening infection control

诊断速度加快五倍，加强感染控制

'When genomic surveillance lags behind evolution, critical time is lost. What metagenomics allows you to do is to be agnostic, to cast the net wide and capture information of all possible causes of infection. When diagnosis accelerates, our ability to contain infections improves.'

“当基因组监测落后于进化时，关键时间就失去了。宏基因组学允许你做到不可知论，广泛撒网并捕获所有可能的感染原因的信息。当诊断加速时，我们控制感染的能力就会提高。”

- Associate Professor Niranjan Nagarajan, NUS Yong Loo Lin School of Medicine

- 新加坡国立大学 Yong Loo Lin 医学院副教授 Niranjan Nagarajan

Contributions of Oral Health to Longevity in our Super Ageing Society – Integrating Orofacial Pain Management into Holistic Strategies for Healthy Longevity

口腔健康对超级老龄化社会长寿的贡献——将口面部疼痛管理整合到健康长寿的整体策略中

Oral health as an indicator of systemic health

口腔健康作为全身健康的一个指标

Understanding pain, personalising value-driven care

理解疼痛，个性化价值驱动的护理

'Oral-systemic pathways show the bidirectional relationship between the oral health as well as your systemic health. Understanding how different people communicate and perceive pain will allow us to tailor and personalise care.'

“口腔-全身通路显示了口腔健康与全身健康之间的双向关系。了解不同人群如何沟通和感知疼痛，将使我们能够定制和个性化护理。”

- Dr Eunice Lua, National University Centre for Oral Health, Singapore and NUS Faculty of Dentistry

新加坡国立大学口腔健康中心及新加坡国立大学牙医学院的Eunice Lua博士

Insights into the Science of Ageing – LinAge

衰老科学的见解——LinAge

A clinical ageing clock using routine health data

利用常规健康数据的临床衰老时钟

Revealing biological risk beyond chronological age to guide precise intervention

揭示超出实际年龄的生物风险以指导精确干预

'Beyond treating disease, geroscience helps us to understand how our bodies age at a biological level. It identifies the factors driving an individual's biological ageing, highlighting modifiable risks before disease develops.'

“除了治疗疾病，老年科学还帮助我们从生物学层面理解身体是如何衰老的。它识别推动个体生物衰老的因素，在疾病发生之前突出可改变的风险。”

- Dr Fong Sheng, Ng Teng Fong General Hospital

- 方盛博士，黄廷芳综合医院

National University Centre for Genomic Medicine (NUGEM)

国立大学基因组医学中心 (NUGEM)

Embedding genomics into routine clinical care

将基因组学融入常规临床护理

Turning genomic insights into clinical decisions that matter for patients

将基因组学见解转化为对患者重要的临床决策

'Today, 99 per cent of individuals carry genetic variants that affect how common medications should be prescribed.

今天，99% 的人携带影响常见药物应如何开具处方的基因变异。

It is critical that these genomic insights emerge as part of routine care. It is a transformational process that will take time.

这些基因组学的见解作为常规护理的一部分出现是至关重要的。这是一个需要时间的转型过程。

But we need to take the first step.'

但是我们需要迈出第一步。

- Associate Professor Ng Kar Hui, National University Hospital and NUS Yong Loo Lin School of Medicine

- 新加坡国立大学医院及新加坡国立大学杨潞龄医学院副教授吴嘉慧

Non-Communicable Disease (NCD) Modelling in Public Health

公共卫生中的非传染性疾病（NCD）建模

Longitudinal population data across the life course to model risk trajectories and extend healthspan at scale

纵向人口数据贯穿生命周期，用于模拟风险轨迹并大规模延长健康寿命

'Within the Singapore population health study, we collect data of individuals across time, so we know what their health behaviours are. Through disease modelling, we can predict future health trends.'

“在新加坡人口健康研究中，我们收集了跨时间的个人数据，因此我们了解他们的健康行为。通过疾病建模，我们可以预测未来的健康趋势。”

- Associate Professor Cynthia Chen, Saw Swee Hock School of Public Health

- 陈欣副教授，苏瑞福公共卫生学院

Pain Talks in Singapore – Importance of Interdisciplinarity for Optimised Assessment and Management: Small Fibre Neuropathies in Neuropathic Pain Conditions

新加坡疼痛诊疗讨论——跨学科在优化评估与管理中的重要性：神经性疼痛疾病中的小纤维神经病

Direct visualisation of nerve and immune pathology

直接可视化神经和免疫病理学

Enabling mechanism-based, precision treatment of neuropathic pain

启用基于机制的神经性疼痛精准治疗

'Using skin biopsy and molecular staining, we can directly visualise nerve fibre damage that imaging and electro-diagnostic tests cannot detect. Identifying small fibre neuropathy and their molecular mechanisms allow us to treat patients in a targeted and precise manner.'

“通过皮肤活检和分子染色，我们可以直接观察到成像和电诊断测试无法检测到的神经纤维损伤。识别小纤维神经病变及其分子机制使我们能够以有针对性和精确的方式治疗患者。”

- Dr Amanda Chan, National University Hospital and NUS Yong Loo Lin School of Medicine

新加坡国立大学医院和新加坡国立大学杨潞龄医学院的陈安达医生

Read more about the projects

阅读更多关于这些项目的信息

here

这里

or watch the Summit opening video

或观看峰会开幕视频

here

这里

.

。

Watch the video on NUGEM

在NUGEM上观看视频

here

这里

.

。

Genomics in action: Patient profiles

基因组学在行动：患者概况

Deriving life

衍生生命

‑

‑

saving answers in the ICU: Bedside-to-bench and back

在重症监护室中挽救生命：从床边到实验室再回到床边

A healthy woman in her early 30s was admitted to the ICU with sudden, fulminant melioidosis, a severe bacterial infection that led to multi‑organ failure. While extracorporeal membrane oxygenation (ECMO) system supported vital organ functioning, she remained critically ill with limited improvement over five weeks.

一名 30 岁出头的健康女性因突发严重的类鼻疽（一种导致多器官衰竭的严重细菌感染）被送入 ICU。在体外膜氧合 (ECMO) 系统支持重要器官功能的情况下，她在五周内仍处于病危状态，改善有限。

Her care team decided to initiate immune and genetic testing by the bedside..

她的护理团队决定在床边启动免疫和基因测试。

The tests led to uncovering a first-to-be-described defect of the immune system that combats intracellular infections (

测试揭示了首个被描述的免疫系统缺陷，该系统对抗细胞内感染。

viz.

即，也就是（用于列举或具体说明）

of bacteria or germs that invade and multiply inside host cells) through programmed cell death, explaining her extreme vulnerability to the infection. This guided the team to administer a targeted immune-augmenting therapy that led to the patient clearing the infection within days. She was eventually extubated, underwent rehabilitation, and ultimately returned to work..

通过程序性细胞死亡清除入侵并在宿主细胞内繁殖的细菌或病菌），这解释了她对感染的极度脆弱性。这引导团队实施了针对性的免疫增强疗法，使患者在数天内清除了感染。她最终被拔管，接受了康复治疗，并最终重返工作岗位。

Subsequently, a hospital in India reached out to the NUH team about a 4-year-old girl with melioidosis who also required ECMO in the ICU. Commercial genetic testing had not yielded results. The raw genetic data was transmitted to Singapore, re-analysed, and led to the diagnosis of a similar gene defect from 3,000 kilometres away.

随后，印度的一家医院联系了NUH团队，询问一名患有类鼻疽的4岁女孩，她同样在ICU中需要ECMO。商业基因检测未能得出结果。原始基因数据被传输到新加坡，经过重新分析，从3000公里外诊断出类似的基因缺陷。

The little girl has since recovered.   .

小女孩现已康复。

These experiences illustrate how state-of-the-art investigations in critical infections can reveal hidden immune vulnerabilities and guide life‑saving interventions.

这些经验表明，针对严重感染的前沿研究如何揭示隐藏的免疫脆弱性并指导挽救生命的干预措施。

Care across a lifetime and into the next generation

一生的关怀，并延续到下一代

A 32‑year‑old woman who journeyed with NUH since infancy presented at just 90 days old with diabetic ketoacidosis and was diagnosed with likely insulin‑dependent diabetes. As a child, a research-based genetic test indicated a genetic cause of diabetes due to a variant in the INS gene.

一名自婴儿时期就与 NUH 一同前行的 32 岁女性，在仅 90 天大时因糖尿病酮症酸中毒就诊，并被诊断可能患有胰岛素依赖型糖尿病。在童年时期，一项基于研究的基因检测表明，由于 INS 基因变异，她的糖尿病具有遗传原因。

When planning for a family in her late 20s, she returned for pre-conception family planning. Newer genomic technology confirmed that she did indeed carry a mutation in the INS gene which causes autosomal dominant INS‑related permanent neonatal diabetes, clarifying her diagnosis and her risk of passing it on to her children..

在她将近三十岁时，她为备孕而回到计划生育科。新的基因组学技术证实，她的 INS 基因确实存在突变，这种突变导致常染色体显性遗传的与INS相关的永久性新生儿糖尿病，这明确了她的诊断以及将疾病遗传给子女的风险。

With this information, she and her husband were able to undergo in-vitro fertilisation (IVF) with pre-implantation genetic testing (PGT‑M

有了这些信息，她和她的丈夫能够进行体外受精（IVF）并结合胚胎植入前遗传学检测（PGT-M）。

[2]

[2]

). An embryo without the INS mutation was transferred, and follow‑up prenatal genetic testing confirmed with 99.9 per cent accuracy that their baby did not inherit the condition. In 2025, she delivered a healthy baby girl.

）。移植了没有INS突变的胚胎，后续的产前基因检测以99.9%的准确率确认他们的宝宝没有遗传到这种疾病。2025年，她顺利诞下一名健康的女婴。

Her story charts a full circle, from diagnosis in infancy to empowered reproductive decision‑making as an adult, showing how precision medicine supports patients across their entire life course.

她的故事描绘了一个完整的循环，从婴儿期的诊断到成年后的自主生殖决策，展示了精准医学如何在整个生命历程中为患者提供支持。

Informing care across generations

跨代护理信息

A woman in her 30s first came to NUH during her first pregnancy, having been otherwise healthy with no known kidney issues. Routine prenatal scans revealed that her child had abnormal kidneys, prompting genetic testing shortly after birth. The results confirmed autosomal dominant polycystic kidney disease (ADPKD) – an inherited condition that can lead to progressive kidney failure over time..

一名 30 多岁的女性在首次怀孕期间首次来到 NUH，她此前身体健康，没有已知的肾脏问题。常规产前扫描显示她的孩子肾脏异常，因此在出生后不久进行了基因检测。结果证实为常染色体显性多囊肾病 (ADPKD)，这是一种可能导致渐进性肾衰竭的遗传性疾病。

Her son, now in kindergarten, remains well and continues to be followed up at NUH. As a result of the child's diagnosis, the mother also underwent genetic testing and was found to carry the same disease‑causing mutation as her son. Further evaluation revealed that she had multiple cysts in her kidneys and liver.

她的儿子，现在在上幼儿园，依然健康，并继续在新加坡国立大学医院接受随访。由于孩子的诊断结果，这位母亲也接受了基因检测，发现她和儿子携带相同的致病突变。进一步评估显示，她的肾脏和肝脏有多个囊肿。

She is now under regular care with a kidney specialist..

她现在定期接受肾脏科医生的治疗。

With this knowledge, she and her husband were able to undergo IVF with PGT-M for their second child. She has since welcomed a healthy child who does not have the condition.

有了这些知识，她和她的丈夫能够通过IVF和PGT-M技术生下第二个孩子。之后，她顺利迎来了一位健康的孩子，这个孩子并没有患上该疾病。

Her journey highlights how genetic testing can uncover previously silent disease, guide long‑term monitoring, and empower families in care and reproductive decision-making.

她的旅程突显了基因检测如何揭示以前隐匿的疾病、指导长期监测，以及帮助家庭在护理和生育决策中获得主动权。

Ending a diagnostic odyssey in kidney disease

结束肾脏病的诊断之旅

A 20-year-old man first came to NUH at age four with blood in his urine. Based on clinical features, Alport syndrome was suspected. However, genetic testing then revealed a possible abnormality but could not confirm the diagnosis. The inconclusive tests at the time left the family disappointed and they decided to stop further check-ups and tests..

一名20岁的男子在4岁时首次因尿液带血来到新加坡国立大学医院求医。根据临床特征，医生怀疑他患有阿尔波特综合症。然而，基因测试当时显示可能有异常，但无法确认诊断。当时检测结果不确定，这让家人感到失望，他们决定停止进一步的检查和测试。

At 18, during routine army enlistment screening, the patient was found to have abnormally high levels of protein and blood in the urine, and had developed mild hearing loss. This again pointed strongly towards Alport syndrome, a hereditary kidney condition that can progress to kidney failure if undiagnosed..

患者 18 岁时，在常规的入伍体检中发现尿液中蛋白质和血液水平异常升高，并出现轻度听力损失。这些症状再次强烈指向 Alport 综合征，这是一种遗传性肾脏疾病，如果未被诊断出，可能会进展为肾衰竭。

He returned for care, and with newer genomic technologies now available, he is undergoing updated genetic testing to secure a definitive diagnosis without needing a kidney biopsy which may not always be informative.

他回来接受治疗，由于现在有了更新的基因组技术，他正在进行更新的基因检测，以获得明确的诊断，而无需进行肾活检，因为肾活检结果并不总是具有指导性。

A confirmed diagnosis will guide his treatment plan, clarify how quickly his kidney condition may progress, and help him understand future implications of passing to his children. His journey reflects how advances in genomics can close a diagnostic loop years in the making, avoiding unnecessary painful invasive procedures, and potentially providing closure to a diagnostic odyssey..

确诊将指导他的治疗计划，明确他的肾脏状况可能进展的速度，并帮助他理解未来对其子女的影响。他的经历反映了基因组学的进步如何能够结束长达数年的诊断循环，避免不必要的痛苦侵入性手术，并有可能为诊断之旅提供一个终点。

[1]

[1]

PGT-M refers to pre-implantation genetic testing for monogenic / single gene defects.

PGT-M是指针对单基因/单一基因缺陷的植入前遗传学检测。

[2]

[2]

PGT-M refers to pre-implantation genetic testing for monogenic / single gene defects.

PGT-M是指针对单基因/单一基因缺陷的植入前遗传学检测。

SOURCE National University Health System (NUHS)

来源：国立大学卫生系统 (NUHS)

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