专家指出：真正的突破，不只是测序，而是理解基因背后的生物学意义

迪拜，2026年2月12日 —— 在今日举行的 WHX Labs 分子诊断与基因组学专题论坛上，多位区域与国际专家围绕“未来十年的分子诊断：区域与全球视角”展开深入讨论。论坛不仅梳理了基因组医学的快速进展，也直面当前尚未解决的关键挑战。

尽管全基因组测序（Whole Genome Sequencing）的应用日益广泛，但专家指出，仍有大量患者无法获得明确诊断。如何弥合这一“诊断缺口”，成为本场论坛的核心议题。

技术进步显著，但诊断缺口仍高达50%

论坛嘉宾包括：

• Dr Hemad Yasaei国家参考实验室分子诊断与基因组学负责人
• 
• Dr Ahmed Alfares沙特费萨尔国王专科医院基因医学卓越中心副执行主任

• Dr Rami Mahfouz贝鲁特美国大学医学中心临床病理学教授兼科室主任
  
• Dr Ahmad Abu Tayoun迪拜健康基因医学中心主任

在讨论中，Dr Ahmed Alfares 指出：

“即便在最先进的标准检测体系下，我们仍然面临约50%的诊断缺口。新兴技术——包括长读长测序、多组学整合以及人工智能——正在推动我们向更完整的基因组组装与功能解读迈进。真正的机会，不只是识别基因变异，而是理解其生物学影响。”

专家一致认为，未来的突破不仅依赖更高精度的测序技术，更依赖对生物学机制的深层理解，以及多组学（multi-omics）的整合应用。

本地基因数据库建设成为关键议题

论坛强调，构建“本地来源的基因数据库”对于精准解读变异意义至关重要。

不同人群存在显著遗传差异，若缺乏本地数据支撑，基因变异的临床意义往往难以准确判断。但同时，全球知识空白仍然存在，国际间的数据共享与合作仍是未来发展的关键。

基因组医学正在进入临床常规应用阶段

在临床层面，专家们也对“成本高、周期长、不确定性强”的传统认知提出挑战。

随着快速测序技术的发展与检测成本的持续下降，基因检测正逐步进入常规医疗体系。从肿瘤标志物到感染性疾病快速检测，分子诊断正成为实验室医学的重要支柱。

液体活检：替代还是补充？

在前沿技术讨论中，液体活检成为热点议题。

Dr Rami Mahfouz 表示：

“液体活检正在重塑我们的诊断能力，但在现阶段，它更适合作为组织检测的补充，而非替代。未来，若在诊疗路径一开始就整合两种方式，将大幅提升检测敏感度与临床决策质量。”

专家强调，在推广新技术时必须坚持循证原则，平衡创新速度与临床验证。

专题会议内容聚焦分子创新

本次分子诊断与基因组学专题以：

“分子创新：重塑实验室医学与患者预后”

为主题，内容涵盖：

• 新一代测序（NGS）实施路径
• 感染性疾病快速分子检测
• 肿瘤生物标志物进展
• 质量管理框架
• CRISPR 诊断技术
• AI 与分子数据整合

会议面向分子技术专家、实验室主任与病理学家，聚焦真实操作场景中的挑战，如检测验证、数据分析流程、法规合规与复杂数据解读。

WHX Labs 25周年里程碑

作为第25届实验室管理与医学大会的重要组成部分，本届会议共设九大CME认证学术轨道，包括：

• 实验室管理
• 血液学
• 临床化学
• 临床微生物
• 分子诊断
• 组织病理学
• 实验室质量管理
• 输血医学与细胞治疗

大会由全球250位实验室与医学领域专家共同参与，延续“庆祝过去，赋能未来”的主题。

明日（展会最后一天），会议将重点聚焦实验室质量管理与输血医学专题。

CN1699 Global Medical Media Hub：www.cn1699.com

Dubai · 12 February 2026(Original English version published by CN1699 and globally distributed.)

Contact: medical@cn1699.com

CN1699 | Global Medical Media Connecting Academia and Healthcare

英文版本：

·Experts attending WHX Labs today highlighted the emerging technologies that are redefining molecular diagnostics

·The panel discussion, held at the event’s Molecular Diagnostics track, discussed both advances and gaps in genomic medicine 

·WHX Labs continues until tomorrow at Dubai World Trade Centre

Dubai, United Arab Emirates, 12 February 2026: Discussions at WHX Labs today highlighted both the rapid advances and ongoing challenges shaping the future of genomic medicine during a session titled: “Molecular diagnostics in the next decade, regional and global perspectives” held as part of the event’s Molecular Diagnostics and Genomics track.

Featuring a distinguished panel of regional and international experts, the session included insights fromDr HemadYasaei, Head of Molecular Diagnostics & Genomics, National Reference Laboratory; Dr Ahmed Alfares, Deputy Executive Director, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre; Dr Rami Mahfouz, Professor & Head of Division of Clinical Pathology, American University of Beirut Medical Center and Dr Ahmad Abu Tayoun, Director, Dubai Health Genomic Medicine Center.

During the panel discussion, panelists emphasised that, despite the expanding use of whole genome sequencing, many patients still remain without definitive diagnoses. Speakers noted that closing this diagnostic gap will require not only technological innovation but also deeper biological insight and broader integration of multi-omics approaches.

Addressing the evolution of genomic testing, Alfares said: “Even with the best standard-of-care testing, we continue to see a diagnostic gap of around 50%. Emerging technologies, including long-read sequencing, multi-omics and artificial intelligence, are moving us closer to near-complete genomic assemblies and functional interpretation. This is where the real opportunity lies – not just identifying variants but understanding their biological impact.”

The panelists also underscored the growing importance of locally derived genomic databases, recognising their value in refining variant interpretation while acknowledging that significant global knowledge gaps remain.

The conversation extended to the clinical adoption of genomics, where speakers challenged long-standing perceptions surrounding cost, turnaround time and diagnostic uncertainty. Advances in rapid sequencing technologies, coupled with declining testing costs, were highlighted as critical enablers for integrating genomics into routine healthcare.

Looking ahead, discussions on liquid biopsy and data sharing reinforced the need for balanced, evidence-driven implementation. Mahfouz said: “Liquid biopsy is transforming our capabilities, but today it is best viewed as complementary to tissue testing rather than a replacement. As technologies mature, combining both approaches from the outset will enhance sensitivity and clinical decision-making.”

Held under the theme “Molecular Innovations: Transforming laboratory medicine and patient outcomes” the Molecular Diagnostics and Genomics track at WHX Labs features expert-led sessions covering next-generation sequencing implementation, rapid molecular testing for infectious diseases, advances in oncology biomarkers, quality assurance frameworks, and emerging technologies including CRISPR diagnostics and AI integration.

Designed for molecular technologists, laboratory directors, and pathologists, the program addresses real-world challenges in assay validation, bioinformatics workflows, regulatory compliance, and clinical interpretation of complex molecular data. The conference provides attendees with actionable insights to enhance laboratory operations, improve diagnostic accuracy, and implement innovative molecular approaches.

Rejoy Penacerrada, Conference Director, Informa Markets said: “Genomic medicine is progressing rapidly, and the focus must remain on converting innovation into real-world patient impact. Conversations like these play a vital role in addressing both the promise of new technologies and the realities of clinical adoption.”

Marking a significant milestone, the 25th Annual Laboratory Management and Medicine Congress features nine CME-accredited scientific conference tracks, including Laboratory Management, Haematology, Clinical Chemistry, Clinical Microbiology, Molecular Diagnostics, Histopathology, Lab Quality Management and Blood Transfusion Medicine & Cell Therapy.

Led by 250 global thought leaders and laboratory specialists, the congress reflects the 25-year journey of WHX Labs in Dubai under the theme, “Celebrating the past and empowering the future of lab quality through innovation and global benchmarking.” Tomorrow, on the final day of WHX Labs, the Congress will focus on Lab Quality Management and Blood Transfusion Medicine & Cellular Therapy.

ENDS