Article
Medicine, General & Internal
Renske H. Olie, Rachelle R. K. Hensgens, Petal A. H. M. Wijnen, Leo F. Veenstra, Bianca T. A. de Greef, Minka J. A. Vries, Paola E. J. van der Meijden, Jurrien M. ten Berg, Hugo ten Cate, Otto Bekers, Yvonne M. C. Henskens
Summary: The study evaluated the differential effects of the CYP2C19 genotype on three different platelet function tests, showing that the metabolizer status of CYP2C19 significantly affects on-treatment platelet reactivity as measured by LTA and VerifyNow, but not by Multiplate. This suggests that the disagreement between PFTs is partly due to the differential effects of the CYP2C19 genotype, along with other patient-related variables.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Oncology
Jai N. Patel, Danielle Boselli, Elizabeth J. Jandrisevits, Issam S. Hamadeh, Ahmed Salem, Patrick Meadors, Declan Walsh
Summary: Approximately half of the patients received at least one symptom control medication, with the majority receiving SCMs with pharmacogenetic evidence. The study found a significant correlation between symptom severity and SCM prescribing.
SUPPORTIVE CARE IN CANCER
(2021)
Article
Pharmacology & Pharmacy
Blandine De La Gastine, Soizic Percevault, Laurent Varin, Nicolas Richard, Fabienne Fobe, Benoit Plaud, Georges Daccache, Vincent Compere, Jean-Jacques Parienti, Antoine Coquerel, Magalie Loilier, Nathalie Bleyzac, Laurent Bourguignon, Sylvain Goutelle, Veronique Lelong-Boulouard
Summary: This study investigated the relationship between tramadol and CYP2D6 phenotype and found that tramadol is not suitable as a probe drug for CYP2D6 phenotyping.
Article
Psychiatry
Beatriz Cantieri Almeida, Emanuella Dutra Goncalves, Maria Helena de Sousa, Maria Jose Martins Duarte Osis, Marilia Jesus Batista de Brito Mota, Aline Cristiane Planello
Summary: Brazilian psychiatrists have some familiarity with PGx but express concerns regarding education, test requests and interpretation, cost-effectiveness, and ethical issues. Age, practice setting, and gender are associated with varying perceptions and competency in PGx. Education and training resources are needed to improve the clinical implementation of PGx in psychiatry.
PSYCHIATRY RESEARCH
(2021)
Article
Multidisciplinary Sciences
Hannah McConnell, T. Daniel Andrews, Matt A. Field
Summary: This study evaluated the effectiveness of eleven missense mutation functional inference tools on all known pharmacogenetic missense variants in the Pharmacogenomics Knowledgebase (PharmGKB) repository. The results showed variable performance of functional inference tools on PharmGKB variants, particularly on variants causing off-target, type B adverse drug reactions. New predictive algorithms are needed to accurately predict the effects of these variants in order to improve the adoption of pharmacogenetics in clinical practice.
Review
Genetics & Heredity
Austin A. Saugstad, Natasha Petry, Catherine Hajek
Summary: As our understanding of genomics and genetic testing continues to advance, the personalization of medical decision making is progressing simultaneously. By carefully crafting medical care to fit the specific needs of the individual, patients can experience better long-term outcomes, reduced toxicities, and improved healthcare experiences. Studies have revealed diverse relationships between specific genetic variants and available therapies, ranging from well-documented clinical approaches to potential future applications.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Mariangeli Monero-Paredes, Roberto Feliu-Maldonado, Kelvin Carrasquillo-Carrion, Pablo Gonzalez, Igor B. Rogozin, Abiel Roche-Lima, Jorge Duconge
Summary: This study aimed to assess the possible interaction between genetic biomarkers linked to cardiovascular diseases and those associated with clopidogrel resistance among admixed Caribbean Hispanics. The results showed no genetic loci with a dual predictive role for the risk of cardiovascular disease severity and clopidogrel resistance in this population.
Article
Cardiac & Cardiovascular Systems
Amber L. Beitelshees, Cameron D. Thomas, Philip E. Empey, George A. Stouffer, Dominick J. Angiolillo, Francesco Franchi, Sony Tuteja, Nita A. Limdi, James C. Lee, Julio D. Duarte, Rolf P. Kreutz, Todd C. Skaar, James C. Coons, Jay Giri, Caitrin W. McDonough, Rachel Rowland, James M. Stevenson, Thuy Thai, Mark R. Vesely, Jacob T. Wellen, Julie A. Johnson, Almut G. Winterstein, Larisa H. Cavallari, Craig R. Lee
Summary: The clinical implementation of CYP2C19-guided antiplatelet therapy after PCI has shown better outcomes compared to clopidogrel treatment. For patients with a CYP2C19 loss-of-function variant, alternative therapy significantly reduces the risk of major atherothrombotic events.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Review
Behavioral Sciences
Danilo Arnone, Omar Omar, Teresa Arora, Linda Ostlundh, Reshma Ramaraj, Syed Javaid, Romona Devi Govender, Bassam R. Ali, George P. Patrinos, Allan H. Young, Emmanuel Stip
Summary: Pharmacogenomic tests based on CYP2D6 and CYP2C19 genomic variants can guide the choice and dosing of antidepressants, improving treatment outcomes for major depressive disorders. A meta-analysis study demonstrated the effectiveness of these tests in improving, responding to, and achieving remission in patients with major depression.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2023)
Article
Biochemistry & Molecular Biology
Maria Laura Idda, Magdalena Zoledziewska, Silvana Anna Maria Urru, Gregory McInnes, Alice Bilotta, Viola Nuvoli, Valeria Lodde, Sandro Orru, David Schlessinger, Francesco Cucca, Matteo Floris
Summary: Pharmacogenetics aims to identify the genetic factors that determine individual differences in drug response. This study investigated the pharmacogenetic variation in a sample set of Sardinians and found a high likelihood of atypical responses to multiple drugs in this population. Additionally, Sardinians showed a higher number of pharmacogenetic variants compared to other European populations, which may contribute to interpopulation variability in drug response phenotypes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Pharmacology & Pharmacy
David F. Kisor, Natasha J. Petry, David R. Bright
Summary: Pharmacogenomics (PGx) is becoming more widely used in community pharmacies, with a focus on drug-gene pairs like clopidogrel-CYP2C19. The US is updating clinical guidelines to support clinical decision-making and incorporating direct-to-consumer (DTC) testing methods into PGx services in community pharmacy settings.
PHARMACOGENOMICS & PERSONALIZED MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Kris Oreschak, Laura M. Saba, Nicholas Rafaels, Amrut V. Ambardekar, Kimberly M. Deininger, Robert L. Page, JoAnn Lindenfeld, Christina L. Aquilante
Summary: The study identified an association between a variant in the HNF1A gene and drug-induced leukopenia in patients receiving medication post-heart transplant. This suggests genetic variation may play a role in influencing adverse drug reactions.
JOURNAL OF HEART AND LUNG TRANSPLANTATION
(2021)
Article
Pharmacology & Pharmacy
Myung-Eui Seo, Byung-Joo Min, Nayoon Heo, Kye Hwa Lee, Ju Han Kim
Summary: This study comprehensively assessed the drug metabolizing capabilities of CYP2C19 variants discovered through population sequencing and proposed a methodology that combines in silico prediction algorithms and functional assays to evaluate the changes in drug metabolism caused by genomic variants in CYP genes.
FRONTIERS IN PHARMACOLOGY
(2023)
Review
Pharmacology & Pharmacy
Danya Kabbani, Reem Akika, Ahmed Wahid, Ann K. Daly, Ingolf Cascorbi, Nathalie Khoueiry Zgheib
Summary: Considerable efforts have been made to implement Pharmacogenomics (PGx) into routine clinical practice. The article proposes an approach for initiating clinical PGx in hospitals, including evaluating available evidence, selecting relevant drugs and gene pairs, deciding on genotyping strategy, interpreting and reporting test results, and involving stakeholders. The article also recommends strategies for further advancing PGx implementation, such as educating healthcare providers and patients, and advocating for test reimbursement. Available PGx resources and implementation programs are also provided.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Pharmacology & Pharmacy
Meha Mehta, Normi Gajjar, Rutvi Patel, Lipi Joshi, Gaurang Shah
Summary: The objective of this study was to determine the frequency of genetic variants of cytochrome P450 enzymes and their impact on the efficacy of clopidogrel. The frequencies of CYP2C19*2, CYP2C9*2, and CYP2C9*3 were determined using allele-specific polymerase chain reaction (ASPCR). The presence of the CYP2C19*2 variant was associated with reduced efficacy of clopidogrel.
INDIAN JOURNAL OF PHARMACOLOGY
(2023)
Editorial Material
Medicine, General & Internal
Chris Piech, Ali Malik, Eric J. Topol
Review
Medicine, General & Internal
Daniel P. Oran, Eric J. Topol
Summary: Available data suggests that at least one third of SARS-CoV-2 infections are asymptomatic. Longitudinal studies indicate that nearly three quarters of individuals who test positive via PCR but show no symptoms at the time of testing will remain asymptomatic. Control strategies for COVID-19 need to be adjusted considering the prevalence and transmission risk of asymptomatic SARS-CoV-2 infections.
ANNALS OF INTERNAL MEDICINE
(2021)
Editorial Material
Biochemistry & Molecular Biology
Eric J. Topol
Review
Biochemistry & Molecular Biology
Pranav Rajpurkar, Emma Chen, Oishi Banerjee, Eric J. Topol
Summary: This Review discusses the potential of AI to reshape medicine and make healthcare more accurate, efficient, and accessible. It covers recent progress in medical AI, including advances in medical image analysis, non-image data sources, and human-AI collaboration. The article also addresses technical and ethical challenges, such as data scarcity and racial bias.
Editorial Material
Multidisciplinary Sciences
Eric Topol
Article
Health Care Sciences & Services
Matteo Gadaleta, Jennifer M. Radin, Katie Baca-Motes, Edward Ramos, Vik Kheterpal, Eric J. Topol, Steven R. Steinhubl, Giorgio Quer
Summary: Individual smartwatch or fitness band sensor data have shown promise in identifying COVID-19 infection, and a explainable gradient boosting prediction model based on decision trees was proposed for detection. The model demonstrated good performance in symptomatic individuals and also performed well in all individuals, including asymptomatic and pre-symptomatic cases.
NPJ DIGITAL MEDICINE
(2021)
Article
Medicine, General & Internal
Siegfried Karl Wagner, Fintan Hughes, Mario Cortina-Borja, Nikolas Pontikos, Robbert Struyven, Xiaoxuan Liu, Hugh Montgomery, Daniel C. Alexander, Eric Topol, Steffen Erhard Petersen, Konstantinos Balaskas, Jack Hindley, Axel Petzold, Jugnoo S. Rahi, Alastair K. Denniston, Pearse A. Keane
Summary: Retinal signatures of systemic disease are being revealed through high-resolution ophthalmic imaging and advanced modelling. However, progress is limited due to the lack of large labelled datasets. This study aims to link longitudinal multimodal retinal imaging with systemic disease data to identify hidden retinal signatures for earlier detection and risk management of life-threatening conditions.
Article
Health Care Sciences & Services
Giorgio Quer, Matteo Gadaleta, Jennifer M. Radin, Kristian G. Andersen, Katie Baca-Motes, Edward Ramos, Eric J. Topol, Steven R. Steinhubl
Summary: The ability to track physiological changes in individuals after vaccination using wearable devices can provide objective evidence of vaccine-induced immune response. Preliminary findings show that resting heart rate increases after vaccination in most individuals and returns to normal within days. Vaccine dosage, gender, and age may also affect the physiological response.
NPJ DIGITAL MEDICINE
(2022)
Letter
Biotechnology & Applied Microbiology
Giorgio Quer, Eric J. Topol, Steven R. Steinhubl
NATURE BIOTECHNOLOGY
(2022)
Review
Biotechnology & Applied Microbiology
Jay A. Pandit, Jennifer M. Radin, Giorgio Quer, Eric J. Topol
Summary: During the COVID-19 pandemic, smartphone apps played a crucial role in tracking outbreaks, individual screening, and contact tracing. Despite limitations and concerns, there is ample evidence that these apps have been beneficial in understanding and controlling the spread of the virus.
NATURE BIOTECHNOLOGY
(2022)
Review
Engineering, Biomedical
Rayan Krishnan, Pranav Rajpurkar, Eric J. Topol
Summary: This Review examines the advantages and limitations of self-supervised methods and models in medicine and healthcare, as well as the challenges in collecting unbiased data for their training. The utilization of self-supervised learning has the potential to accelerate the development of medical artificial intelligence, particularly in tasks involving multimodal datasets and the analysis of electronic health records, medical images, bioelectrical signals, and genetic and protein sequences and structures.
NATURE BIOMEDICAL ENGINEERING
(2022)
Review
Biochemistry & Molecular Biology
Julian N. Acosta, Guido J. Falcone, Pranav Rajpurkar, Eric J. Topol
Summary: This Review discusses the potential applications, technical pitfalls, and challenges of multimodal artificial intelligence models in the field of health and medicine. By utilizing data from large biobanks, electronic health records, medical imaging, and genomics, multimodal AI solutions have the ability to capture the complexity of human health and disease. Key areas such as personalized medicine, digital clinical trials, remote monitoring and care, pandemic surveillance, and virtual health assistants offer opportunities, but data, modeling, and privacy challenges need to be addressed for the full potential of multimodal AI in health to be realized.
Review
Microbiology
Hannah E. Davis, Lisa McCorkell, Julia Moore Vogel, Eric J. Topol
Summary: Long COVID is a common and debilitating illness that affects at least 10% of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections, with a wide range of symptoms and impacts on multiple organ systems. There are an estimated 65 million individuals worldwide with long COVID, and the number of cases is increasing daily. Current diagnostic and treatment options are insufficient, and there is a need for clinical trials to address leading hypotheses. Future research should account for biases and testing issues, build on viral-onset research, include marginalized populations, and meaningfully engage patients.
NATURE REVIEWS MICROBIOLOGY
(2023)
Correction
Microbiology
Hannah E. Davis, Lisa McCorkell, Julia Moore Vogel, Eric J. Topol
NATURE REVIEWS MICROBIOLOGY
(2023)
Article
Health Care Sciences & Services
Bertalan Mesko, Eric J. J. Topol
Summary: The rapid advancements in AI have led to the development of sophisticated large language models (LLMs) such as GPT-4 and Bard. The potential implementation of LLMs in healthcare settings has gained attention due to their diverse applications, but caution is necessary as these models are trained differently and require regulatory oversight to ensure safety and protect patient privacy. This paper provides practical recommendations for regulators to bring this vision to reality.
NPJ DIGITAL MEDICINE
(2023)