STAMFORD, Conn.--(BUSINESS WIRE)--GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced it has provided genomic newborn screenings (gNBS) for more than 14,000 infants through its participation in groundbreaking research studies which aim to explore the clinical utility and implementation of utilizing genome sequencing to expand standard newborn screening (NBS).

康涅狄格州斯坦福德——（商业新闻短讯）——GeneDx（纳斯达克：WGS）是通过基因组见解改善健康结果的领导者，今天宣布，它通过参与开创性的研究，为14000多名婴儿提供了基因组新生儿筛查（gNBS），旨在探索利用基因组测序扩大标准新生儿筛查（NBS）的临床实用性和实施。

Through these studies, GeneDx has conducted more gNBS than any other lab and gained experience understanding diverse multi-site implementation strategies, positioning GeneDx as a laboratory leader set to revolutionize the standard approach to NBS..

通过这些研究，GeneDx比任何其他实验室都进行了更多的GNB，并获得了了解多种多站点实施策略的经验，将GeneDx定位为实验室领导者，旨在彻底改变国家统计局的标准方法。。

Early diagnosis is critical to ensuring patients have the best chance at fighting the progression of disease. The broad availability of gNBS can significantly decrease time-to-diagnosis, which is particularly critical for diagnoses with actionable outcomes, including associated treatments and/or interventions.

早期诊断对于确保患者有最好的机会对抗疾病进展至关重要。GNB的广泛可用性可以显着缩短诊断时间，这对于具有可行结果的诊断（包括相关治疗和/或干预措施）尤其关键。

Through a retrospective analysis of its large database - currently more than 700,000 exomes and genomes - GeneDx looked to identify positive findings that would have been reported at birth had gNBS been available to patients as newborns. This analysis showed that greater than 21% of patients would have received a diagnosis earlier, on average by more than 8 years..

GeneDx通过对其大型数据库（目前有70多万个外显子组和基因组）的回顾性分析，试图确定如果新生儿患者可以获得gNBS，出生时就会报告的阳性结果。这项分析表明，超过21%的患者会更早得到诊断，平均时间超过8年。。

As the lab behind industry moving research studies, including GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns), which has served more than 10,000 infants, and its early involvement in Early Check, supporting 2,000 infants, GeneDx has a unique understanding of the complexities of offering gNBS at scale.

作为推动行业研究的实验室，包括为10000多名婴儿提供服务的GUARDIAN（针对所有新生儿罕见疾病的基因组统一筛查）及其早期参与早期检查（支持2000名婴儿），GeneDx对大规模提供GNB的复杂性有着独特的理解。

Interpretation of gNBS is heavily dependent on having a robust and diverse database of clinically significant variants to reduce the burden of analysis. Additionally, expertise in technical evaluation and understanding sequencing data outputs are necessary to inform variant interpretation and deliver a more definitive diagnosis..

gNBS的解释在很大程度上取决于拥有一个强大且多样化的临床重要变体数据库，以减轻分析负担。此外，技术评估和理解测序数据输出方面的专业知识对于告知变体解释和提供更明确的诊断是必要的。。

“GeneDx’s participation in GUARDIAN and Early Check allowed us to not only help end the diagnostic odyssey by delivering actionable diagnoses for hundreds of newborns before symptoms ever started, but also gave us the opportunity to showcase the power and impact of genomic newborn screening in this setting,” said Dr.

“GeneDx参与GUARDIAN和Early Check不仅使我们能够在症状出现之前为数百名新生儿提供可行的诊断，从而帮助结束诊断之旅，而且还为我们提供了展示基因组新生儿筛查在这种情况下的力量和影响的机会，”Dr。

Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “Over the past few years science and technology have allowed us to make remarkable strides that both lower costs and improve turnaround time that allows GeneDx to bring genomic newborn screening to families at scale today.”.

Paul Kruszka，医学博士，FACMG，GeneDx首席医疗官。“在过去的几年中，科学和技术使我们取得了长足的进步，既降低了成本，又缩短了周转时间，使GeneDx能够在今天的规模上为家庭带来基因组新生儿筛查。”。

GeneDx is proud to partner with Columbia University Irving Medical Center, New York-Presbyterian and the New York State Department of Health on the GUARDIAN study, and with the North Carolina State Laboratory of Public Health and the University of North Carolina at Chapel Hill for the Early Check study..

GeneDx很荣幸与哥伦比亚大学欧文医学中心、纽约长老会和纽约州卫生部合作进行《卫报》研究，并与北卡罗莱纳州公共卫生实验室和北卡罗莱纳大学教堂山分校合作进行早期检查研究。。

Dr. Kruszka is set to present “Lessons Learned: 14,000+ Infants Screened with Newborn Sequencing1” at the International Conference on Newborn Sequencing (ICoNS) this week in New York City.

Kruszka博士将于本周在纽约市举行的新生儿测序国际会议（ICoNS）上介绍“经验教训：14000多名接受新生儿测序筛查的婴儿”。

GeneDx’s ongoing work to support research within gNBS underscores the company’s vision for a world where any genetic disorder is diagnosed quickly to prevent disease progression and ensure long and healthy lives for all. As gNBS continues to advance, GeneDx remains dedicated to being at the forefront by harnessing genomic insights for early disease detection and one day ending the diagnostic odyssey..

GeneDx正在进行的支持gNBS内部研究的工作突显了该公司对世界的愿景，即快速诊断任何遗传疾病，以防止疾病进展，确保所有人的长寿和健康。随着gNBS的不断进步，GeneDx仍然致力于通过利用基因组洞察力进行早期疾病检测，并有一天结束诊断之旅，从而走在最前沿。。

For more information about GeneDx and our pioneering work in gNBS, visit genedx.com/newborn-screening.

有关GeneDx和我们在gNBS中的开创性工作的更多信息，请访问GeneDx.com/novel-screening。

About GeneDx:

关于GeneDx：

GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world’s largest, rare disease data sets.

GeneDx（纳斯达克：WGS）提供个性化和可行的健康见解，为诊断、直接治疗和改进药物发现提供信息。该公司在加速使用基因组和大规模临床信息以使精准医学成为护理标准方面具有独特的优势。GeneDx通过其业界领先的外显子组和基因组测试和解释服务，在世界上最大的罕见疾病数据集的推动下，处于医疗保健转型的前沿。

For more information, please visit www.genedx.com and connect with us on LinkedIn, Facebook, and Instagram..

有关更多信息，请访问www.genedx.com，并通过LinkedIn、Facebook和Instagram与我们联系。。

1 The findings and conclusions in this presentation are those of the authors and do not necessarily represent the views of the North Carolina Department of Health and Human Services, Division of Public Health

1本演示文稿中的发现和结论是作者的发现和结论，不一定代表北卡罗莱纳州卫生与公众服务部公共卫生司的观点