一种以人工智能（AI）为基础的技术，可以快速、准确地诊断危重儿童的罕见疾病, 根据犹他大学健康和织物基因组学的科学家的一份报告, collaborators on a study led by Rady Children’s Hospital in San Diego. The benchmark finding, published in Genomic Medicine, foreshadows the next phase of medicine, 在哪里，技术可以大发娱乐临床医生快速确定疾病的根本原因，以便他们能够更快地为患者大发娱乐提供正确的治疗.
“这项研究是一个令人兴奋的里程碑，表明人工智能决策支持技术的快速见解有可能显著改善患者护理,” says Mark Yandell, Ph.D., co-corresponding author on the paper. 杨德尔是人类遗传学教授，也是美国国立卫生大学埃德娜·本宁总统捐赠主席, and a founding scientific advisor to Fabric.
全世界每年约有700万婴儿出生时患有严重的遗传疾病. For these children, life usually begins in intensive care. A handful of NICUs in the U.S., including at U of U Health, are now searching for genetic causes of disease by reading, or sequencing, the three billion DNA letters that make up the human genome. While it takes hours to sequence the whole genome, 诊断疾病可能需要数天或数周的计算和人工分析.
For some infants, that is not fast enough, Yandell says. 了解新生儿疾病的原因对有效治疗至关重要. 在出生后的最初24至48小时内做出诊断，为这些患者大发娱乐提供了改善病情的最佳机会. Knowing that speed and accuracy are essential, Yandell’s group worked with Fabric to develop the new Fabric GEM algorithm, which incorporates AI to find DNA errors that lead to disease.
In this study, 科学家们通过分析来自雷迪儿童医院和世界各地其他五个医疗中心的179例先前诊断的儿科病例的全基因组来测试GEM. 在92%的情况下，GEM将致病基因确定为其前两个候选基因之一. 这样做优于现有的工具，后者完成相同任务的时间不到60%.
"This is a major innovation, one made possible through AI."
“Dr. Yandell和犹他大学的团队在将人工智能研究应用于基因组学方面走在了前列,” says Martin Reese, Ph.D., CEO of Fabric Genomics and a co-author on the paper. “大发娱乐的合作大发娱乐Fabric达到了前所未有的精确度, 为在新生儿重症监护室广泛使用人工智能全基因组测序打开了大门.”
GEM利用人工智能从庞大且不断增长的知识体系中学习，这些知识对于临床医生和科学家来说已经变得具有挑战性. GEM交叉引用了来自不同种群的基因组序列的大型数据库, clinical disease information, and other repositories of medical and scientific data, combining all this with the patient’s genome sequence and medical records. To assist with the medical record search, GEM can be coupled with a natural language processing tool, Clinithink’s CLiX focus, 哪一种会通过扫描医生的大量记录来获取患者疾病的临床表现.
“危重儿童很快就会积累很多页的临床记录，”Yandell说. “作为诊断过程的一部分，医生需要手动查看和总结笔记内容，这需要耗费大量时间. Clinithink的工具能够在几秒钟内自动转换这些笔记的内容以供GEM使用，这对于速度和可扩展性至关重要.”
现有技术主要识别包括单个DNA字母变化的小基因组变异, or insertions or deletions of a small string of DNA letters. By contrast, GEM can also find “structural variants” as causes of disease. These changes are larger and are often more complex. 据估计，10%到20%的遗传疾病是由结构变异造成的.
“能够更确定地诊断，开辟了一个新的领域，”卢卡·布鲁内利（Luca Brunelli）说.D., a neonatologist and professor of pediatrics at U of U Health, 谁领导一个团队使用GEM和其他基因组分析技术来诊断新生儿重症监护病房的患者. 他的目标是为那些在这些工具开发出来之前不得不生活在不确定之中的家庭大发娱乐提供答案. He says these advances now provide an explanation for why a child is sick, enable doctors to improve disease management, and, at times, lead to recovery.
“This is a major innovation, one made possible through AI,” Yandell says. GEM使基因组测序在新生儿重症监护室应用中更具成本效益和可扩展性. 这需要一个由临床医生、科学家和软件工程师组成的国际团队来实现. Seeing GEM at work for such a critical application is gratifying.”
Fabric and Yandell’s team at the Utah Center for Genetic Discovery have had their collaborative research supported by several national agencies, including the National Institutes of Health and American Heart Association, and by the U of U’s Center for Genomic Medicine. Yandell将继续建议Fabric团队进一步优化GEM的准确性和界面，以供临床使用.
# # #
The research was published online on October 14, 2021, as, “人工智能使全面的基因组解释和提名罕见遗传疾病的候选诊断成为可能.”
参与这项研究的其他中心包括波士顿儿童医院, Christian-Albrechts University of Kiel & University Hospital Schleswig-Holstein, HudsonAlpha Institute of Biotechnology, Tartu University Hospital, and the Translational Genomics Research Institute (TGen).
利益冲突：杨德尔从Fabric Genomics获得了股票期权和咨询费, Inc. Reese is an employee of Fabric Genomics, Inc.
About University of Utah Health
University of Utah Health 为包括美国10%的转诊地区大发娱乐提供领先的和富有同情心的护理, including Idaho, Wyoming, Montana, and much of Nevada. A hub for health sciences research and education in the region, U of U Health拥有一个价值4.28亿美元的研究企业，培养了犹他州大多数的医生, including more than 1,460 health care providers each year at its Colleges of Health, Nursing, and Pharmacy and Schools of Dentistry and Medicine. 该系统拥有2万多名员工，包括12个社区诊所和5家医院. For 11 straight years, 在严格的Vizient质量和责任研究中，U of U Health跻身美国十大学术医疗中心之列.
About Fabric Genomics
Fabric Genomics is making genomics-driven precision medicine a reality. 该公司大发娱乐提供临床决策支持软件，使临床实验室, hospital systems, and country-sequencing programs to gain actionable genomic insights, improved diagnostic yields, and reduced turnaround time. Fabric’s Enterprise Platform 端到端基因组分析结合了成熟的人工智能算法和自然语言处理，在遗传性疾病和肿瘤学方面都有应用. Headquartered in Oakland, California, Fabric Genomics是由对生物信息学有深刻理解的行业资深人士和创新者创立的, large-scale genomics, and clinical diagnostics. To learn more, visit Fabric Genomics and follow us on Twitter and LinkedIn.