Review
Biochemistry & Molecular Biology
Christopher E. Hopkins, Trisha Brock, Thomas R. Caulfield, Matthew Bainbridge
Summary: Precision medicine aims to provide highly personalized treatments based on an individual's unique genetic makeup and environmental exposures, considering both susceptibility to diseases and optimal therapeutic approaches. In the case of rare disorders, genetic predisposition often plays a significant role, making it crucial to identify pathogenic variations in the patient's genome. However, determining the pathogenicity of such variants can be challenging, especially when functional data is lacking.
MOLECULAR ASPECTS OF MEDICINE
(2023)
Article
Economics
Abram L. Wagner, Felicia Zhang, Kerry A. Ryan, Eric Xing, Paige Nong, Sharon L. R. Kardia, Jodyn Platt
Summary: This study aims to assess preferences for sharing electronic health records (EHR) and genetic information separately and to examine whether there are different preferences for sharing these two types of information.
Review
Food Science & Technology
Ingrid Rivera-Iniguez, Karina Gonzalez-Becerra, Omar Ramos-Lopez, Yolanda E. E. Perez-Beltran, Marian S. S. Chaguen-Hernandez, Erika Martinez-Lopez, Edgar J. J. Mendivil
Summary: This systematic review aims to identify genetic variants associated with lipid abnormalities for use in nutrigenetic interventions to prevent and treat dyslipidemia effectively.
MOLECULAR NUTRITION & FOOD RESEARCH
(2023)
Review
Genetics & Heredity
Haipeng Pang, Ying Xia, Shuoming Luo, Gan Huang, Xia Li, Zhiguo Xie, Zhiguang Zhou
Summary: Type 1 diabetes mellitus (T1DM) is an autoimmune disorder with a complex and heterogeneous nature, caused by a combination of genetic susceptibility and environmental factors. While known susceptibility loci can explain a significant portion of the heritability of T1DM, undetected rare and low-frequency variants may account for some of its missing genetic components. Rare and low-frequency variants are believed to have larger effect sizes and play more significant roles in susceptibility to common diseases like T1DM compared to common variants.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Public, Environmental & Occupational Health
Xin Wang, Yun Sun, Xian-Wei Guan, Yan-Yun Wang, Dong-Yang Hong, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Tao Jiang, Zheng-Feng Xu
Summary: Newborn genetic screening for high-risk infants shows potential clinical effectiveness in detecting genetic diseases at an early stage. Combined newborn screening can effectively reduce false positive rates caused by high-risk symptoms and improve the positive predictive value.
JOURNAL OF GLOBAL HEALTH
(2023)
Article
Nutrition & Dietetics
Yolanda E. Perez-Beltran, Ingrid Rivera-Iniguez, Karina Gonzalez-Becerra, Naomi Perez-Naitoh, Juscelino Tovar, Sonia G. Sayago-Ayerdi, Edgar J. Mendivil
Summary: This systematic review examines the interaction between genes and diet on circulating lipid variations and provides relevant nutrigenetic recommendations. The findings suggest that personalized dietary interventions, including dietary fats, carbohydrates, dietary fiber, nutraceuticals, and protein intake, can have a direct impact on blood lipid levels, serving as potential strategies for preventive and control measures against cardiovascular diseases.
FRONTIERS IN NUTRITION
(2022)
Article
Computer Science, Information Systems
Eli M. Lourie, Levon Haig Utidjian, Maria F. Ricci, Linda Webster, Carola Young, Stephanie M. Grenfell
Summary: Personalized optimization programs can significantly improve providers' knowledge, efficiency, and reduce feelings of burnout related to the electronic health record (EHR). Utilizing a one-on-one approach for optimization sessions helps enhance provider engagement and outcomes.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2021)
Article
Computer Science, Information Systems
Yuriy Pylypchuk, Chad D. Meyerhoefer, William Encinosa, Talisha Searcy
Summary: The study found that hospitals' adoption of a new electronic health record (EHR) developer increases patient sharing with hospitals using the same developer. Consolidation in the EHR industry has led to higher patient sharing among hospitals with the same EHR developer, which may impact patient flow and healthcare outcomes across hospitals.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2022)
Article
Medicine, Research & Experimental
Chengcheng Li, Jackson Wilborn, Sara Pittman, Jil Daw, Jorge Alonso-Perez, Jordi Diaz-Manera, Conrad C. Weihl, Gabe Haller
Summary: Genetic testing is crucial for patients with suspected hereditary myopathy, as a significant number of diagnosed myopathy patients carry unknown variants in myopathy genes, leading to a lack of genetic diagnosis. The study focused on limb-girdle muscular dystrophy (LGMD), specifically type R4/2E caused by beta-sarcoglycan (SGCB) mutations. By analyzing the functional impact of missense variants in the SGCB gene, a correlation between variant function and disease severity was discovered, providing valuable insights for clinical interpretation and improving LGMD diagnosis.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Review
Cardiac & Cardiovascular Systems
Bryan Ju Min Yap, Ashley Sean Lai-Foenander, Bey Hing Goh, Yong Sze Ong, Acharaporn Duangjai, Surasak Saokaew, Caroline Lin Lin Chua, Pochamana Phisalprapa, Wei Hsum Yap
Summary: Leukocytoclastic vasculitis is characterized by inflammation of the vascular endothelium, with advancements in genomic technologies helping to identify genetic variations and pathways for targeted therapies. Personalized medicine aims to provide more effective treatments for individuals through understanding immunopathogenic pathways and genetic associations.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Medical Informatics
Santiago Frid, Maria Angeles Fuentes Exposito, Inmaculada Grau-Corral, Clara Amat-Fernandez, Montserrat Munoz Mateu, Xavier Pastor Duran, Raimundo Lozano-Rubi
Summary: This study developed a methodology based on the dual-model paradigm to facilitate communication of clinical information between a patient mobile app and an institutional clinical repository. By utilizing EN/ISO 13606 standardized archetypes and ontologies, the study achieved clinical information reuse and extended the knowledge representation of the clinical repository.
JMIR MEDICAL INFORMATICS
(2022)
Article
Multidisciplinary Sciences
Alexandra A. Soukup, Daniel R. Matson, Peng Liu, Kirby D. Johnson, Emery H. Bresnick
Summary: The study explores conditionally pathogenic enhancer motif variants that differentially affect hematopoietic development and regeneration, as well as an Ets motif variant that autonomously disrupts hematopoiesis in hematopoietic cells.
Article
Genetics & Heredity
Anthony Scott, Donna M. Martin
Summary: Genetic testing and result return in pediatric settings require patient follow-up, referrals, and coordination between providers. The Pediatric Genetic Tracking episodes system serves as a centralized summary for tracking patient genetic information and facilitates communication to support timely and accurate return of results.
GENETICS IN MEDICINE
(2021)
Letter
Computer Science, Interdisciplinary Applications
Aya Gamal, Sherif Barakat, Amira Rezk
Summary: This paper discusses the issues with current Health Information Exchange and proposes a solution of transitioning to an integrated universal health information infrastructure to support real-time HIE and big data analytics. However, achieving HIS integration still requires significant effort.
JOURNAL OF BIOMEDICAL INFORMATICS
(2021)
Article
Biochemistry & Molecular Biology
Gabriele Bonetti, William Cozza, Andrea Bernini, Jurgen Kaftalli, Chiara Mareso, Francesca Cristofoli, Maria Chiara Medori, Leonardo Colombo, Salvatore Martella, Giovanni Staurenghi, Anna Paola Salvetti, Benedetto Falsini, Giorgio Placidi, Marcella Attanasio, Grazia Pertile, Mario Bengala, Francesca Bosello, Antonio Petracca, Fabiana D'Esposito, Benedetta Toschi, Paolo Lanzetta, Federico Ricci, Francesco Viola, Giuseppe Marceddu, Matteo Bertelli
Summary: This study investigates the use of PacBio sequencing to detect genetic variants in low-complexity regions, such as the ORF15 exon of RPGR, and interpret their pathogenicity through structural studies. The results show that PacBio sequencing is more accurate in detecting these variants and provides a way to predict their pathogenicity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Computer Science, Information Systems
Ling Zheng, Zhe He, Duo Wei, Vipina Keloth, Jung-Wei Fan, Luke Lindemann, Xinxin Zhu, James J. Cimino, Yehoshua Perl
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2020)
Article
Computer Science, Information Systems
Tiago K. Colicchio, Pavithra Dissanayake, James J. Cimino
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2020)
Article
Health Care Sciences & Services
Isaac S. Kohane, Bruce J. Aronow, Paul Avillach, Brett K. Beaulieu-Jones, Riccardo Bellazzi, Robert L. Bradford, Gabriel A. Brat, Mario Cannataro, James J. Cimino, Noelia Garcia-Barrio, Nils Gehlenborg, Marzyeh Ghassemi, Alba Gutierrez-Sacristan, David A. Hanauer, John H. Holmes, Chuan Hong, Jeffrey G. Klann, Ne Hooi Will Loh, Yuan Luo, Kenneth D. Mandl, Mohamad Daniar, Jason H. Moore, Shawn N. Murphy, Antoine Neuraz, Kee Yuan Ngiam, Gilbert S. Omenn, Nathan Palmer, Lav P. Patel, Miguel Pedrera-Jimenez, Piotr Sliz, Andrew M. South, Amelia Li Min Tan, Deanne M. Taylor, Bradley W. Taylor, Carlo Torti, Andrew K. Vallejos, Kavishwar B. Wagholikar, Griffin M. Weber, Tianxi Cai
Summary: The increase in studies using real-world data coinciding with the COVID-19 pandemic has led to concerns about the soundness and quality of the studies, resulting in retractions of some high-profile publications. Lack of frameworks for critical appraisal and understanding of EHR-derived studies among medical editorial teams and readers highlight the need for better understanding and evaluation of such research. Key considerations for appraising studies using EHR data include data completeness, data handling, data types, method robustness against EHR variability, data transparency, and a multidisciplinary approach.
JOURNAL OF MEDICAL INTERNET RESEARCH
(2021)
Article
Pharmacology & Pharmacy
Harry Hochheiser, Xia Jing, Elizabeth A. Garcia, Serkan Ayvaz, Ratnesh Sahay, Michel Dumontier, Juan M. Banda, Oya Beyan, Mathias Brochhausen, Evan Draper, Sam Habiel, Oktie Hassanzadeh, Maria Herrero-Zazo, Brian Hocum, John Horn, Brian LeBaron, Daniel C. Malone, Oystein Nytro, Thomas Reese, Katrina Romagnoli, Jodi Schneider, Louisa (Yu) Zhang, Richard D. Boyce
Summary: This paper presents a new minimal information model for describing potential drug-drug interactions, which was developed through in-depth examination and expert input. Ten core information items and best practices recommendations were identified to assist artifact creators in synthesizing drug interaction evidence for clinical use.
FRONTIERS IN PHARMACOLOGY
(2021)
Review
Medical Informatics
Xia Jing
Summary: The Unified Medical Language System (UMLS) has been widely used in English-language peer-reviewed publications over the past 30 years, with primary themes including natural language processing, information retrieval, terminology study, ontology and modeling.
JMIR MEDICAL INFORMATICS
(2021)
Article
Health Policy & Services
Lisa Bastarache, Jeffrey S. Brown, James J. Cimino, David A. Dorr, Peter J. Embi, Philip R. O. Payne, Adam B. Wilcox, Mark G. Weiner
Summary: Developing evidence-based practice requires analyzing real-world data from electronic health records (EHRs), which contain a wealth of information about patients for risk stratification and insight into associations between exposures, interventions, and outcomes. To transform real-world data into reliable evidence, one must choose correct analytical methods and understand the quality and differences in source data characteristics.
LEARNING HEALTH SYSTEMS
(2022)
Article
Health Care Sciences & Services
Temiloluwa Sokoya, Yuchun Zhou, Sebastian Diaz, Timothy Law, Lina Himawan, Francisca Lekey, Lu Shi, Ronald W. Gimbel, Xia Jing
Summary: This study analyzed the perspectives of the public towards 29 health indicators and found that drug or substance abuse, smoking or tobacco use, alcohol abuse, major depression, and diet and nutrition were highly rated by the participants.
JOURNAL OF MEDICAL INTERNET RESEARCH
(2022)
Article
Computer Science, Information Systems
Xia Jing, Akash Indani, Nina Hubig, Hua Min, Yang Gong, James J. Cimino, Dean F. Sittig, Lior Rennert, David Robinson, Paul Biondich, Adam Wright, Christian Nohr, Timothy Law, Arild Faxvaag, Ronald Gimbel
Summary: This study developed a systematic and data-driven methodology for configuring MetaMap for optimal performance.
METHODS OF INFORMATION IN MEDICINE
(2022)
Article
Computer Science, Information Systems
Genevieve B. Melton, James J. Cimino, Christoph U. Lehman, Patricia R. Sengstack, Joshua C. Smith, William M. Tierney, Randolph A. Miller
Summary: A panel sponsored by ACMI discussed the negative impact of electronic health records on clinicians, including reduced efficiency, reasoning abilities, and knowledge. Addressing these issues will require engagement from various stakeholders, and future EHR systems should be more user-focused and scalable.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2022)
Review
Medical Informatics
Xia Jing, Hua Min, Yang Gong, Paul Biondich, David Robinson, Timothy Law, Christian Nohr, Arild Faxvaag, Lior Rennert, Nina Hubig, Ronald Gimbel
Summary: Clinical decision support systems (CDSSs) play a crucial role in improving the quality and safety of healthcare. However, the reuse and management of CDSS rules are still limited. This systematic literature review explores the use of ontologies in CDSS rule management and highlights the need for further research to improve the reusability and interoperability of CDSS rules.
JMIR MEDICAL INFORMATICS
(2023)
Article
Health Care Sciences & Services
Xia Jing, Vimla L. Patel, James J. Cimino, Jay H. Shubrook, Yuchun Zhou, N. Draghi, Mytchell A. Ernst, Chang Liu, Sonsoles De Lacalle
Summary: The study developed a visual interactive analytic tool (VIADS) for filtering and summarizing large health data sets. The usability of VIADS was evaluated through visualizing patient diagnoses and procedures coded in ICD-9-CM. The results demonstrated that VIADS provides new perspectives on data sets and is relatively easy to use.
JMIR HUMAN FACTORS
(2023)
Article
Computer Science, Interdisciplinary Applications
Tiago K. Colicchio, James J. Cimino
Summary: Despite the extensive literature exploring alert fatigue, most studies have focused on describing the phenomenon, but not on fixing it. This study conducted a retrospective observational study of opioid drug allergy alert (DAA) overrides to identify data elements useful to avoid clinically irrelevant alerts. The findings suggest that a significant number of opioid DAAs could be safely averted, and future research should focus on identifying other relevant data elements to improve clinical decision support systems.
JOURNAL OF BIOMEDICAL INFORMATICS
(2023)
Article
Medicine, Research & Experimental
Richard J. Bookman, James J. Cimino, Christopher A. Harle, Rhonda G. Kost, Sean Mooney, Emily Pfaff, Svetlana Rojevsky, Jonathan N. Tobin, Adam Wilcox, Nick F. Tsinoremas
Summary: The recipients of NIH's Clinical and Translational Science Awards (CTSA) have played a crucial role in combatting the COVID-19 pandemic through their established informatics infrastructure and support for clinical research. Survey data showed increased reliance on electronic health record data by healthcare providers and researchers, highlighting the importance of investments and research in informatics and public health for post-COVID-19 clinical and translational research.
JOURNAL OF CLINICAL AND TRANSLATIONAL SCIENCE
(2021)
Article
Health Care Sciences & Services
Xia Jing, Vimla L. Patel, James J. Cimino, Jay H. Shubrook, Yuchun Zhou, Chang Liu, Sonsoles De Lacalle
Summary: The study aims to explore the role of secondary data analytics tools in facilitating scientific hypothesis generation, comparing the differences between experienced and inexperienced clinical researchers. Results indicate that clinical researchers can quickly generate initial scientific hypotheses based on data sets and prior experience, but refining these hypotheses is a more time-consuming activity.
JMIR RESEARCH PROTOCOLS
(2022)