Article
Medicine, General & Internal
Kimberley M. DeMerle, Jason N. Kennedy, Octavia M. Peck Palmer, Emily Brant, Chung-Chou H. Chang, Robert P. Dickson, David T. Huang, Derek C. Angus, Christopher W. Seymour
Summary: In precision medicine, identifying and utilizing biomarkers to subtype patients for targeted treatment is essential. Developing a virtually enabled biorepository and electronic health record system for precision medicine is feasible and cost-effective compared to traditional study designs in acute care settings.
Article
Cardiac & Cardiovascular Systems
John R. Giudicessi, Michael J. Ackerman, Diane Fatkin, Jason C. Kovacic
Summary: The initial papers in this Focus Seminar series reviewed the fundamentals and key concepts of precision medicine, then focused on precision medicine in the context of vascular disease and cardiomyopathy. The remaining papers will delve into precision medicine in the context of arrhythmias, specifically on long QT syndrome, Brugada syndrome, and atrial fibrillation. The emerging approaches to these arrhythmias vary significantly, but common themes include increased use of genetic testing, avoidance of triggers, and personalized risk stratification for treatment.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Sheng-Chia Chung, Amand F. Schmit, Gregory Y. H. Lip, Rui Providencia
Summary: This study analyzed electronic health records to identify the most common reasons for healthcare utilization among patients with atrial fibrillation (AF), both before and after diagnosis. It also discovered new conditions that have not yet been associated with AF. The findings of this study are important for understanding the clinical needs of AF patients and for guiding screening and treatment strategies.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Yang Yu, Isabelle Deschenes, Ming-Tao Zhao
Summary: Long QT syndrome (LQTS) is a dangerous arrhythmia syndrome caused by ion channel dysregulation. Clinical symptoms of LQTS vary among subtypes and can include ventricular arrhythmias, palpitations, and syncope. Identical mutations may result in different clinical manifestations due to modifier genes. This review discusses the role of ion channels in LQTS and highlights the use of patient-specific iPSC models. Future treatments may capitalize on whole-genome sequencing, CRISPR genome editing, and machine learning to advance precision medicine in LQTS.
EXPERT REVIEWS IN MOLECULAR MEDICINE
(2023)
Review
Oncology
Richard C. Wang, Zhixiang Wang
Summary: The concept of precision medicine, based on genomics, emerged after the Human Genome Project. Precision medicine allows tailored treatment for different patient subpopulations based on their susceptibility to specific diseases or responsiveness to specific therapies. This review examines the history, development, and future perspective of precision medicine and discusses its concepts, principles, tools, and applications.
Article
Computer Science, Interdisciplinary Applications
Thomas Ferte, Sebastien Cossin, Thierry Schaeverbeke, Thomas Barnetche, Vianney Jouhet, Boris P. Hejblum
Summary: PheVis is an automated unsupervised algorithm that identifies patient medical conditions from EHR data by combining diagnosis codes and medical concepts, performing well for chronic diseases.
JOURNAL OF BIOMEDICAL INFORMATICS
(2021)
Article
Cardiac & Cardiovascular Systems
Brent A. Williams, Stephen Voyce, Stephen Sidney, Veronique L. Roger, Timothy B. Plante, Sharon Larson, Michael J. LaMonte, Darwin R. Labarthe, Bailey M. DeBarmore, Alexander R. Chang, Alanna M. Chamberlain, Catherine P. Benziger
Summary: Cardiovascular disease surveillance involves quantifying the burden of cardiovascular outcomes and risk factors, followed by implementing intervention strategies. Although the US currently lacks a dedicated national surveillance system, electronic health records (EHRs) can be used for this purpose. This article discusses the strengths (ubiquity of EHRs, common data infrastructure, longitudinal data, breadth of outcomes) and limitations (incomplete health information, suspect data quality, difficulty in surveilling patients without documented interactions, challenges in interpreting temporal trends) of using EHRs for establishing a national cardiovascular disease surveillance system.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Review
Health Care Sciences & Services
Milena A. Gianfrancesco, Neal D. Goldstein
Summary: The challenges of using electronic health records (EHRs) for epidemiological analysis include assumptions about representativeness, data availability, interpretability, and missing data. Collaboration between epidemiologists, clinicians, and informaticians, as well as a variety of methodological approaches, is necessary to address these challenges and ensure data quality.
BMC MEDICAL RESEARCH METHODOLOGY
(2021)
Article
Computer Science, Information Systems
Crampton Noah, Greiver Michelle, Woods Nicole, Singer Alex, Domb Sharon, Orava Matthew, Shachak Aviv
Summary: Clinical documentation and EMR data quality have slight differences. It is important to train clinicians in data discipline to ensure high quality EMR data. However, there is limited understanding on how to teach and instill these competencies, including learning objectives, content, and teaching methods.
INTERNATIONAL JOURNAL OF MEDICAL INFORMATICS
(2022)
Article
Public, Environmental & Occupational Health
Oliver J. Canfell, Kamila Davidson, Leanna Woods, Clair Sullivan, Noelle M. Cocoros, Michael Klompas, Bob Zambarano, Elizabeth Eakin, Robyn Littlewood, Andrew Burton-Jones
Summary: Precision public health (PPH) is a new approach to prevent non-communicable diseases (NCDs) using digital health data. Based on the learnings from digital health, we propose three horizons of digital health transformation: digital public health workflows, population health data and analytics, and precision public health. Two multinational use cases are presented to contextualize our roadmap.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Health Care Sciences & Services
Anurag Verma, Scott M. Damrauer, Nawar Naseer, JoEllen Weaver, Colleen M. Kripke, Lindsay Guare, Giorgio Sirugo, Rachel L. Kember, Theodore G. Drivas, Scott M. Dudek, Yuki Bradford, Anastasia Lucas, Renae Judy, Shefali S. Verma, Emma Meagher, Katherine L. Nathanson, Michael Feldman, Marylyn D. Ritchie, Daniel J. Rader
Summary: The Penn Medicine BioBank is an EHR-linked biobank that integrates a variety of health information with genomic data, making it one of the most diverse medical biobanks. Its significance lies in expanding diversity in genetic and translational research, and its potential for biological discovery and precision medicine.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Computer Science, Information Systems
Robert M. Cronin, Alese E. Halvorson, Cassie Springer, Xiaoke Feng, Lina Sulieman, Roxana Loperena-Cortes, Kelsey Mayo, Robert J. Carroll, Qingxia Chen, Brian K. Ahmedani, Jason Karnes, Bruce Korf, Christopher J. O'Donnell, Jun Qian, Andrea H. Ramirez
Summary: This study collected family health history information through surveys and EHR data, revealing inconsistencies between the two sources with surveys providing more details. Integrating data from both sources can offer a more comprehensive source for family health history, but informatics challenges and opportunities exist.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2021)
Article
Medical Informatics
Jeffrey A. Kline, Brian Reed, Alex Frost, Naomi Alanis, Meylakh Barshay, Andrew Melzer, James W. Galbraith, Alicia Budd, Amber Winn, Eugene Pun, Carlos A. Camargo Jr
Summary: This study describes the development and operation of a national network dedicated to surveillance of acute respiratory infections in emergency departments, providing a valuable public health resource for monitoring the epidemiology, viral causes, and outcomes of ED patients with ARIs.
BMC MEDICAL INFORMATICS AND DECISION MAKING
(2023)
Article
Medicine, General & Internal
Taoying Lu, Jingwen Yan, Jianfang Chang, Jianxiong Cai, Lingjia Yin, Jiamin Yuan, Li Huang, Yingshuai Li, Minghua Bai, Kit -Tai Hau, Darong Wu, Zhimin Yang
Summary: This study examined the performance of the Constitution in Chinese Medicine Questionnaire (CCMQ) in terms of item-constitution relations, reliability of each constitution, and the overall nine-constitution structure. The results supported the appropriateness of the CCMQ and provided directions for future revisions.
PATIENT PREFERENCE AND ADHERENCE
(2022)
Article
Critical Care Medicine
Dirk Stengel, Peter Augat, Peter V. Giannoudis
Summary: During the past decade, there has been an increase in large-scale pragmatic clinical trials in orthopedic trauma surgery. However, the precision of outcome measurement depends not only on sample size but also on the homogeneity of the studied population. There is currently a lively and controversial debate about the role of randomized controlled trials in the era of stratified medicine and the use of artificial intelligence in data analysis.
INJURY-INTERNATIONAL JOURNAL OF THE CARE OF THE INJURED
(2023)