Article
Genetics & Heredity
Cameron B. Haas, James Ralston, Stephanie M. Fullerton, Aaron Scrol, Nora B. Henrikson
Summary: This study examines the implementation of automated family cascade genetic testing in electronic health records and finds limited bioinformatic support and non-technical barriers, including understanding of regulations, consent, and workflow.
FRONTIERS IN GENETICS
(2022)
Review
Computer Science, Information Systems
Kevin B. Johnson, Michael J. Neuss, Don Eugene Detmer
Summary: This study aims to provide an introductory tutorial on the history of medical documentation, sources of clinician burnout, and opportunities to improve electronic health records (EHRs). It highlights both the successes and current limitations of EHRs, and suggests that improving the clinician's experience through collaboration and policy changes can address burnout.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2021)
Article
Urology & Nephrology
Atlas Khan, Ning Shang, Lynn Petukhova, Jun Zhang, Yufeng Shen, Scott J. Hebbring, Halima Moncrieffe, Leah C. Kottyan, Bahram Namjou-Khales, Rachel Knevel, Soumya Raychaudhuri, Elizabeth W. Karlson, John B. Harley, Ian B. Stanaway, David Crosslin, Joshua C. Denny, Mitchell S. V. Elkind, Ali G. Gharavi, George Hripcsak, Chunhua Weng, Krzysztof Kiryluk
Summary: This study identified genetic determinants of plasma C3 and C4 levels using eMERGE genomic data linked to electronic medical records. Genetic variants regulating C3 and C4 levels have large effects and multiple clinical correlations across a spectrum of complement-related diseases in humans.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Review
Public, Environmental & Occupational Health
Ingridy M. P. Barbalho, Felipe Fernandes, Daniele M. S. Barros, Jailton C. Paiva, Jorge Henriques, Antonio H. F. Morais, Karilany D. Coutinho, Giliate C. Coelho Neto, Arthur Chioro, Ricardo A. M. Valentim
Summary: This paper presents an audit of the main approaches used for Electronic Health Records (EHR) development in Brazil, discussing prospects, challenges, and existing gaps. The analysis highlights the importance of interoperability, data security, and defined development methodologies.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Endocrinology & Metabolism
Ky'Era Actkins, Kritika Singh, Donald Hucks, Digna R. Velez Edwards, Melinda Aldrich, Jeeyeon Cha, Melissa Wellons, Lea K. Davis
Summary: This study aimed to characterize the phenotypic spectrum of PCOS clinical features within and across racial and ethnic groups. Different phenotyping strategies revealed that PCOS symptoms are observed across a severity spectrum that parallels the continuous genetic liability to PCOS in the general population, with racial and ethnic group differences in PCOS symptomology and metabolic health.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Biochemical Research Methods
Layla Aref, Lisa Bastarache, Jacob J. Hughey
Summary: The linking of electronic health record (EHR) data to DNA biobanks provides a valuable resource for studying the effects of genetic variation on human phenotypes. The phenotype risk score (PheRS) approach has been developed to identify associations between Mendelian disease-like phenotypes and rare genetic variants, as well as to identify undiagnosed Mendelian disease in patients. To improve the usability of the PheRS approach, the researchers have developed the phers R package, which includes functions and maps for performing PheRS-based analysis on linked clinical and genetic data. This package will enhance our understanding of the relationship between rare genetic variants and clinically meaningful human phenotypes.
Article
Health Care Sciences & Services
Susanne B. Haga, Lori A. Orlando
Summary: The collection of family health history is important for clinical practice and patient risk assessment. However, family history data often exclude medication history. Early pharmacogenetic research confirmed the role of genes in drug response and with the availability of clinical pharmacogenetic tests, collecting family medication history can inform testing decisions. This paper explores the roots of family-based pharmacogenetic studies, emphasizing the benefits and challenges of collecting family medication history.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Computer Science, Information Systems
Lina Sulieman, Robert M. Cronin, Robert J. Carroll, Karthik Natarajan, Kayla Marginean, Brandy Mapes, Dan Roden, Paul Harris, Andrea Ramirez
Summary: This analysis compares the medical history collected in the All of Us Research Program through surveys and electronic health records (EHRs). The study found that survey data can supplement EHR data and disagreement between the two sources can help identify missing records and guide researchers in adjusting biases.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(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
Health Care Sciences & Services
Xi Yang, Aokun Chen, Nima PourNejatian, Hoo Chang Shin, Kaleb E. Smith, Christopher Parisien, Colin Compas, Cheryl Martin, Anthony B. Costa, Mona G. Flores, Ying Zhang, Tanja Magoc, Christopher A. Harle, Gloria Lipori, Duane A. Mitchell, William R. Hogan, Elizabeth A. Shenkman, Jiang Bian, Yonghui Wu
Summary: This study develops a large clinical language model and evaluates it on five clinical NLP tasks. By scaling up the number of parameters and increasing the size of the training data, the model improves accuracy and shows potential for enhancing medical AI systems.
NPJ DIGITAL MEDICINE
(2022)
Article
Computer Science, Information Systems
Harrison G. Zhang, Boris P. Hejblum, Griffin M. Weber, Nathan P. Palmer, Susanne E. Churchill, Peter Szolovits, Shawn N. Murphy, Katherine P. Liao, Isaac S. Kohane, Tianxi Cai
Summary: The ATLAS algorithm is a powerful tool for conducting association testing on probabilistically linked data, with the ability to handle missing variables and avoid false matches, resulting in high power compared to previous methods.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2021)
Article
Psychology, Clinical
Brandon J. Coombes, Isotta Landi, Karmel W. Choi, Kritika Singh, Brian Fennessy, Greg D. Jenkins, Anthony Batzler, Richard Pendegraft, Nicolas A. Nunez, Y. Nina Gao, Euijung Ryu, Priya Wickramaratne, Myrna M. Weissman, Jyotishman Pathak, J. John Mann, Jordan W. Smoller, Lea K. Davis, Mark Olfson, Alexander W. Charney, Joanna M. Biernacka
Summary: This study evaluated the polygenic contribution to comorbid depression and anxiety, finding that depression and anxiety have partially independent genetic liabilities and the genetic vulnerabilities make distinct contributions to comorbid depression and anxiety.
PSYCHOLOGICAL MEDICINE
(2023)
Review
Health Care Sciences & Services
Hao Sen Andrew Fang, Teng Hwee Tan, Yan Fang Cheryl Tan, Chun Jin Marcus Tan
Summary: Blockchain technology in the healthcare sector has matured over the past 5 years, with a growing trend towards publications describing prototypes and implementations. Most articles on blockchain PHRs are found in engineering or computer science publications, with common design choices being permissioned blockchains and off-chain storage. Although interest in blockchain PHRs is increasing, the technology is largely in the conceptual stage.
JOURNAL OF MEDICAL INTERNET RESEARCH
(2021)
Article
Biochemical Research Methods
Xiayuan Huang, Nicholas Tatonetti, Katie LaRow, Brooke Delgoffee, John Mayer, David Page, Scott J. Hebbring
Summary: The use of Electronic Health Records (EHR) has increased rapidly in the past few decades. A new stand-alone application, E-Pedigrees, has been developed to automatically construct family pedigrees using two validated family prediction algorithms. This software is fast, easy to use, compatible with different EHR data sources, and provides accurate results for downstream analyses.
Article
Biotechnology & Applied Microbiology
Shuai Wang, James B. Meigs, Josee Dupuis
Summary: Advancements in statistical methods and sequencing technology have led to numerous novel discoveries in human genetics in the past two decades. We propose an efficient score test to analyze a multinomial trait in family samples, in the context of genome-wide association/sequencing studies. Both proposed tests have correct type-I error rate and similar power.
Article
Genetics & Heredity
Katerina S. Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R. Robles, Oksana Kutsa, Heidi Cope, Katherine C. Okoniewski, Anne Wheeler, Catherine W. Rehder, Edward C. Smith, Holly L. Peay
Summary: Screening for elevated CK-MM levels in dried blood spots is a feasible method to identify newborns with DMD. Including specific cutoffs, repeat testing, and genetic sequencing can improve the accuracy and sensitivity of screening.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Madeline Currey, Ilana Solomon, Sarah Mcgraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W. Gray
Summary: This study conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and propose care delivery solutions for the return of secondary germline findings. The responses of patients varied depending on the amount of pre-test counseling they received, and providers identified insufficient clinic time as a major barrier to pretest education. Online support tools and standardized pre-test education models were favored by providers. There were differing perspectives on how pre-test education should be integrated into clinical workflows, but agreement on the inclusion of differences between somatic and germline testing, likelihood of medically actionable findings, and the possibility of being referred to a genetics provider.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kiely N. James, Shimul Chowdhury, Yan Ding, Sergey Batalov, Kelly Watkins, Yong Hyun Kwon, Lucitia Van Der Kraan, Katarzyna Ellsworth, Stephen F. Kingsmore, Lucia Guidugli
Summary: This study used genome sequencing to detect a wide range of copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types. These genetic alterations accounted for 15.8% of reported variants, with deletions being the most common type. The study also found that additional genetic tests were ordered in some cases, but failed to report the variants detected by genome sequencing.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Asem Berkalieva, Nicole R. Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E. Bonini, Priya Marathe, Jacqueline A. Odgis, Sabrina A. Suckiel, Michelle A. Ramos, Rosamond Rhodes, Noura S. Abul-Husn, John M. Greally, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb, Bart S. Ferket
Summary: The study aims to understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. The results showed that patients with positive findings were more likely to receive specialist consultation, but there were no significant increases in overall physician services and costs. More large-scale studies are needed to confirm these findings.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Yunjia Chen, Ender Karaca, Nathaniel H. Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna C. E. Hurst, Andrew J. Carroll, Fady M. Mikhail
Summary: This study confirms the association between DLG2 intragenic deletions and neurodevelopmental disorders, supports the haploinsufficiency of the DLG2 gene, and suggests a potential association between these deletions and congenital anomalies and dysmorphism.
GENETICS IN MEDICINE
(2024)
