Article
Obstetrics & Gynecology
Michael Muriello
Summary: The role of genomic sequencing in the NICU has changed with advances in technology and bioinformatics. Studies have shown that it has an average diagnostic yield of close to 40% and immediate impact on clinical management in more than 20% of patients, with the highest clinical utility in the perinatal setting. Therefore, genomic sequencing should be the standard of care for NICU patients.
CLINICS IN PERINATOLOGY
(2022)
Article
Genetics & Heredity
Monica H. Wojcik, Katharine P. Callahan, Austin Antoniou, Maya C. del Rosario, Luca Brunelli, Nahed O. ElHassan, Semsa Gogcu, Karna Murthy, Jennifer A. Rumpel, Jennifer A. Wambach, Kristen Suhrie, Kristen Fishler, Bimal P. Chaudhari
Summary: This study investigated the variation in genomic medicine services in level IV neonatal intensive care units (NICUs) in the United States and Canada. Although chromosomal microarray and exome or genome sequencing were widely available, access to these services was restricted in some centers. Despite a significant burden of genetic disease, many NICUs had limited availability of rapid, comprehensive genetic testing relevant to critical care decision making. Further efforts are needed to improve access to neonatal genomic medicine services.
GENETICS IN MEDICINE
(2023)
Article
Oncology
Eric D. Routh, Amanda E. D. Van Swearingen, Maria J. Sambade, Steven Vensko, Marni B. McClure, Mark G. Woodcock, Shengjie Chai, Luz A. Cuaboy, Amy Wheless, Amy Garrett, Lisa A. Carey, Alan P. Hoyle, Joel S. Parker, Benjamin G. Vincent, Carey K. Anders
Summary: This study conducted a comprehensive analysis of the genomic and immune characteristics of TNBC BrM and matched primary tumors, revealing that BrM has a higher mutational burden and SNV-derived neoantigen expression, along with reduced immune gene signature expression compared to primary tumors.
FRONTIERS IN ONCOLOGY
(2022)
Article
Immunology
Jing-Jiang Zhou, Wei-Chao Ding, Yan-Cun Liu, Yu-Lei Gao, Lei Xu, Run-Lu Geng, Ying Ye, Yan-Fen Chai
Summary: This study evaluated the diagnostic performance of metagenomic next-generation sequencing (mNGS) and culture in detecting pathogens in patients with suspected pulmonary infection. The results showed that mNGS had a significantly higher positive detection rate than culture, indicating its value as a tool for identifying pathogens, especially in ICU patients who are more prone to mixed infections.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Wouter Steyaert, Shana Verschuere, Paul J. Coucke, Olivier M. Vanakker
Summary: Pseudogenes can complicate molecular diagnostics, especially in diseases like PXE caused by mutations in ABCC6. A PCR-based targeted enrichment approach combined with a specific mapping algorithm offers a reliable alternative to whole-exome sequencing for accurate genetic testing. This time- and cost-efficient strategy provides a comprehensive solution for PXE diagnosis and is highly automatable.
JOURNAL OF GENETICS AND GENOMICS
(2021)
Article
Genetics & Heredity
Seth I. Berger, Georgia Pitsava, Andrea J. Cohen, Emmanuele C. Delot, Jonathan LoTempio, Erin Hallie Andrew, Gloria Mas Martin, Sofia Marmolejos, Jessica Albert, Beatrix Meltzer, Jamie Fraser, Debra S. Regier, Amanda H. Kahn-Kirby, Erica Smith, Susan Knoblach, Arthur Ko, Vincent A. Fusaro, Eric Vilain
Summary: We evaluated the diagnostic yield of genome-slice panel reanalysis using an automated phenotype/gene ranking system in a clinical setting. We analyzed whole genome sequencing (WGS) data from 16 undiagnosed cases referred to a research center. We discovered potentially clinically significant variants in 5 out of 16 cases, including variants in genes not included in the original panel.
Article
Pediatrics
Haiyan Ma, Zezhong Tang, Feifan Xiao, Long Li, Yangfang Li, Wenyan Tang, Liping Chen, Wenqing Kang, Yulan Lu, Xinran Dong, Guoqiang Cheng, Laishuan Wang, Wei Lu, Lin Yang, Qi Ni, Xiaomin Peng, Yao Wang, Yun Cao, Bingbing Wu, Wenhao Zhou, Deyi Zhuang, Guang Lin, Huijun Wang
Summary: Neonatal metabolic acidosis (NMA) is a common problem, particularly in critically ill patients in neonatal intensive care units (NICUs), with a difficult diagnosis. 37% of neonates with metabolic acidosis have genetic disorders, with metabolic diseases being the leading cause. Accurate diagnosis can provide valuable treatment options for some genetic diseases.
FRONTIERS IN PEDIATRICS
(2021)
Article
Health Care Sciences & Services
Amy A. Lemke, Michelle L. Thompson, Emily C. Gimpel, Katelyn C. McNamara, Carla A. Rich, Candice R. Finnila, Meagan E. Cochran, James M. J. Lawlor, Kelly M. East, Kevin M. Bowling, Donald R. Latner, Susan M. Hiatt, Michelle D. Amaral, Whitley V. Kelley, Veronica Greve, David E. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah L. Deans, Carly Tuura, Trent Hughes, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick-Esteve, Anna C. E. Hurst, Brian M. Kirmse, Renate Savich, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper, Kyle B. Brothers
Summary: This study examined parents' experiences with genome sequencing (GS) as a first-line diagnostic tool for infants in the NICU. The results showed that GS in infancy is important for reproductive decision making, preparing for the child's care, ending the diagnostic odyssey, and sharing results with care providers. Most parents found the timing of disclosure acceptable, although the NICU environment was overwhelming for many. Parents did not consistently report negative impacts on parent-infant bonding and variable impact on feelings of guilt.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Oncology
Wenxin Zhang, Ruixia Wang, Huan Fang, Xiangyuan Ma, Dan Li, Tao Liu, Zhenxi Chen, Ke Wang, Shiguang Hao, Zicheng Yu, Zhili Chang, Chenglong Na, Yin Wang, Jian Bai, Yanyan Zhang, Fang Chen, Miao Li, Chao Chen, Liangshen Wei, Jinghua Li, Xiaoyan Chang, Shoufang Qu, Ling Yang, Jie Huang
Summary: This study established a linear model to correlate wesTMB and psTMB. It was found that psTMB could be a representative of wesTMB, and even in samples with low tumor content, psTMB could accurately classify TMB high and low patients.
CLINICAL AND TRANSLATIONAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Lu Lin, Weiqin Liu, Jing Mu, Enmei Zhan, Hong Wei, Siqi Hong, Ziyu Hua
Summary: The establishment of NNICU has gradually improved and standardized neuroprotective therapy and clinical follow-up to improve neurodevelopmental prognosis of NE patients. The unit focused on neonatal neurocritical care for babies susceptible to NE with evidence-based medicine guidance.
Article
Public, Environmental & Occupational Health
Y. Toyama, K. Hisata, Y. Kasai, S. Nakano, M. Komatsu, T. Shimizu
Summary: This study investigated the transmission pathway of MSSA in neonatal intensive care units through genetic analysis, revealing that hospital environment and healthcare workers may contribute to the spread of MSSA. It emphasizes the importance of thorough environmental maintenance and parental education in addition to hand hygiene for controlling MSSA infections.
JOURNAL OF HOSPITAL INFECTION
(2022)
Article
Environmental Sciences
Randall Jenkins, Devlynne Ondusko, Luke Montrose, Ryan Forbush, David Rozansky
Summary: The study shows that in a neonatal unit, infants receive 98% of DEHP exposure from respiratory devices, with bubble CPAP accounting for 95% of the total exposure. By avoiding the use of IV tubing containing DEHP and modifying respiratory equipment appropriately, DEHP exposure can be significantly reduced.
Article
Medicine, General & Internal
Andres Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, Houda Z. Elloumi, Matthew T. Oetjens, Claire Teigen, Karen E. Wain, Julie Scuffins, Scott M. Myers, Rebecca I. Torene, Vladimir G. Gainullin, Kevin Arvai, H. Lester Kirchner, David H. Ledbetter, Kyle Retterer, Christa L. Martin
Summary: The molecular diagnostic yield of exome sequencing among patients with cerebral palsy was found to be 32.7% in a cohort of pediatric patients and 10.5% in a cohort of adult patients. Further research is needed to understand the clinical implications of these findings. This study provides insights into the prevalence of pathogenic and likely pathogenic variants detected in children and adults with cerebral palsy undergoing genetic testing through exome sequencing.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2021)
Article
Clinical Neurology
Pauline E. Schneeberger, Sheela Nampoothiri, Tess Holling, Dhanya Yesodharan, Malik Alawi, A. S. Knisely, Thomas Mueller, Barbara Plecko, Andreas R. Janecke, Kerstin Kutsche
Summary: GARP and EARP are membrane-tethering heterotetramers located at the trans-Golgi network and recycling endosomes, mediating retrograde transport and endocytic recycling. Patients with VPS50 variants exhibit severe developmental delay, microcephaly, seizures, and liver abnormalities.
Article
Genetics & Heredity
Elisabet Rodriguez Llorian, Nick Dragojlovic, Teresa M. Campbell, Jan M. Friedman, Horacio Osiovich, Alison M. Elliott, Larry D. Lynd
Summary: This study compared the downstream utilization of medical services among critically ill infants who received rapid exome sequencing (ES) and those who followed alternative diagnostic testing pathways. The results showed that there was no evidence that ES changes the frequency of outpatient visits or use of in-hospital resources in critically ill infants with suspected genetic disorders.
GENETICS IN MEDICINE
(2022)
