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Precision medicine population

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https://www.readbyqxmd.com/read/29341157/minimizing-inequality-in-access-to-precision-medicine-in-breast-cancer-by-real-time-population-based-molecular-analysis-in-the-scan-b-initiative
#1
L Rydén, N Loman, C Larsson, C Hegardt, J Vallon-Christersson, M Malmberg, H Lindman, A Ehinger, L H Saal, Å Borg
BACKGROUND: Selection of systemic therapy for primary breast cancer is currently based on clinical biomarkers along with stage. Novel genomic tests are continuously being introduced as more precise tools for guidance of therapy, although they are often developed for specific patient subgroups. The Sweden Cancerome Analysis Network - Breast (SCAN-B) initiative aims to include all patients with breast cancer for tumour genomic analysis, and to deliver molecular subtype and mutational data back to the treating physician...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29334893/high-sensitivity-hla-typing-by-saturated-tiling-capture-sequencing-stc-seq
#2
Yang Jiao, Ran Li, Chao Wu, Yibin Ding, Yanning Liu, Danmei Jia, Lifeng Wang, Xiang Xu, Jing Zhu, Min Zheng, Junling Jia
BACKGROUND: Highly polymorphic human leukocyte antigen (HLA) genes are responsible for fine-tuning the adaptive immune system. High-resolution HLA typing is important for the treatment of autoimmune and infectious diseases. Additionally, it is routinely performed for identifying matched donors in transplantation medicine. Although many HLA typing approaches have been developed, the complexity, low-efficiency and high-cost of current HLA-typing assays limit their application in population-based high-throughput HLA typing for donors, which is required for creating large-scale databases for transplantation and precision medicine...
January 15, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29331519/understanding-and-misunderstanding-randomized-controlled-trials
#3
Angus Deaton, Nancy Cartwright
Randomized Controlled Trials (RCTs) are increasingly popular in the social sciences, not only in medicine. We argue that the lay public, and sometimes researchers, put too much trust in RCTs over other methods of investigation. Contrary to frequent claims in the applied literature, randomization does not equalize everything other than the treatment in the treatment and control groups, it does not automatically deliver a precise estimate of the average treatment effect (ATE), and it does not relieve us of the need to think about (observed or unobserved) covariates...
December 25, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/29329368/discovering-personalized-driver-mutation-profiles-of-single-samples-in-cancer-by-network-control-strategy
#4
Wei-Feng Guo, Shao-Wu Zhang, Li-Li Liu, Fei Liu, Qian-Qian Shi, Lei Zhang, Ying Tang, Tao Zeng, Luonan Chen
Motivation: It is a challenging task to discover personalized driver genes that provide crucial information on disease risk and drug sensitivity for individual patients. However, few methods have been proposed to identify the personalized-sample driver genes from the cancer omics data due to the lack of samples for each individual. To circumvent this problem, here we present a novel single-sample controller strategy (SCS) to identify personalized driver mutation profiles from network controllability perspective...
January 10, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29329296/identification-and-in-silico-analysis-of-functional-snps-of-human-tagap-protein-a-comprehensive-study
#5
Maria Arshad, Attya Bhatti, Peter John
Genetic polymorphisms in TAGAP gene have been associated with many diseases including rheumatoid arthritis, multiple sclerosis and other autoimmune disorders. Identifying functional SNPs in such disease associated genes is an uphill task hence before planning larger population study, it is better to scrutinize putative functional SNPs. In this study we used various computational approaches to identify nsSNPs which are deleterious to the structure and/or function of TAGAP protein that might be causing these diseases...
2018: PloS One
https://www.readbyqxmd.com/read/29319603/population-neuroscience-dementia-epidemiology-serving-precision-medicine-and-population-health
#6
Mary Ganguli, Emiliano Albanese, Sudha Seshadri, David A Bennett, Constantine Lyketsos, Walter A Kukull, Ingmar Skoog, Hugh C Hendrie
Over recent decades, epidemiology has made significant contributions to our understanding of dementia, translating scientific discoveries into population health. Here, we propose reframing dementia epidemiology as "population neuroscience," blending techniques and models from contemporary neuroscience with those of epidemiology and biostatistics. On the basis of emerging evidence and newer paradigms and methods, population neuroscience will minimize the bias typical of traditional clinical research, identify the relatively homogenous subgroups that comprise the general population, and investigate broader and denser phenotypes of dementia and cognitive impairment...
January 9, 2018: Alzheimer Disease and Associated Disorders
https://www.readbyqxmd.com/read/29318005/precision-medicine-does-ethnicity-information-complement-genotype-based-prescribing-decisions
#7
REVIEW
Rashmi R Shah, Andrea Gaedigk
Inter-ethnic differences in drug response are all too well known. These are underpinned by a number of factors, including pharmacogenetic differences across various ethnic populations. Precision medicine relies on genotype-based prescribing decisions with the aim of maximizing efficacy and mitigating the risks. When there is no access to genotyping tests, ethnicity is frequently regarded as a proxy of the patient's probable genotype on the basis of overall population-based frequency of genetic variations in the ethnic group the patient belongs to, with some variations being ethnicity-specific...
January 2018: Therapeutic Advances in Drug Safety
https://www.readbyqxmd.com/read/29310479/therapies-for-multidrug-resistant-and-extensively-drug-resistant-non-fermenting-gram-negative-bacteria-causing-nosocomial-infections-a-perilous-journey-toward-molecularly-targeted-therapy
#8
Nadim G El Chakhtoura, Elie Saade, Alina Iovleva, Mohamad Yasmin, Brigid Wilson, Federico Perez, Robert A Bonomo
Non-fermenting Gram-negative bacilli are at the center of the antimicrobial resistance epidemic. Acinetobacter baumannii and Pseudomonas aeruginosa are both designated with a threat level to human health of "serious" by the Centers for Disease Control and Prevention. Two other major non-fermenting Gram-negative bacilli, Stenotrophomonas maltophilia and Burkholderia cepacia complex, while not as prevalent, have devastating effects on vulnerable populations, such as those with cystic fibrosis, as well as immunosuppressed or hospitalized patients...
January 9, 2018: Expert Review of Anti-infective Therapy
https://www.readbyqxmd.com/read/29300382/proposed-outcomes-measures-for-state-public-health-genomic-programs
#9
Debra Lochner Doyle, Mindy Clyne, Juan L Rodriguez, Deborah L Cragun, Laura Senier, Georgia Hurst, Kee Chan, David A Chambers
PurposeTo assess the implementation of evidence-based genomic medicine and its population-level impact on health outcomes and to promote public health genetics interventions, in 2015 the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine formed an action collaborative, the Genomics and Public Health Action Collaborative (GPHAC). This group engaged key stakeholders from public/population health agencies, along with experts in the fields of health disparities, health literacy, implementation science, medical genetics, and patient advocacy...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29283218/identifying-the-genotypes-of-hepatitis-b-virus-hbv-with-dna-origami-label
#10
Ke Liu, Dun Pan, Yanqin Wen, Honglu Zhang, Jie Chao, Lihua Wang, Shiping Song, Chunhai Fan, Yongyong Shi
The hepatitis B virus (HBV) genotyping may profoundly affect the accurate diagnosis and antiviral treatment of viral hepatitis. Existing genotyping methods such as serological, immunological, or molecular testing are still suffered from substandard specificity and low sensitivity in laboratory or clinical application. In a previous study, a set of high-efficiency hybridizable DNA origami-based shape ID probes to target the templates through which genetic variation could be determined in an ultrahigh resolution of atomic force microscopy (AFM) nanomechanical imaging are established...
December 28, 2017: Small
https://www.readbyqxmd.com/read/29261180/preemptive-pharmacogenetic-testing-exploring-the-knowledge-and-perspectives-of-us-payers
#11
Nicholas J Keeling, Meagen M Rosenthal, Donna West-Strum, Amit S Patel, Cyrine E Haidar, James M Hoffman
PurposePreemptive pharmacogenetic testing aims to optimize medication use by having genetic information at the point of prescribing. Payers' decisions influence implementation of this technology. We investigated US payers' knowledge, awareness, and perspectives on preemptive pharmacogenetic testing.MethodsA qualitative study was conducted using semistructured interviews. Participants were screened for eligibility through an online survey. A blended inductive and deductive approach was used to analyze the transcripts...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29251737/integrated-tumor-identification-and-automated-scoring-minimizes-pathologist-involvement-and-provides-new-insights-to-key-biomarkers-in-breast-cancer
#12
Peter Bankhead, José A Fernández, Darragh G McArt, David P Boyle, Gerald Li, Maurice B Loughrey, Gareth W Irwin, D Paul Harkin, Jacqueline A James, Stephen McQuaid, Manuel Salto-Tellez, Peter W Hamilton
Digital image analysis (DIA) is becoming central to the quantitative evaluation of tissue biomarkers for discovery, diagnosis and therapeutic selection for the delivery of precision medicine. In this study, automated DIA using a new purpose-built software platform (QuPath) is applied to a cohort of 293 breast cancer patients to score five biomarkers in tissue microarrays (TMAs): ER, PR, HER2, Ki67 and p53. This software is able to measure IHC expression following fully automated tumor recognition in the same immunohistochemical (IHC)-stained tissue section, as part of a rapid workflow to ensure objectivity and accelerate biomarker analysis...
December 18, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29248362/large-scale-epidemiologic-studies-of-cardiovascular-diseases-in-china-need-for-improved-data-collection-methods-transparency-and-documentation
#13
REVIEW
Hui Qu, Yuan Lu, Emily Gudbranson, Emily M Bucholz, Si Xuan, Frederick A Masoudi, John A Spertus, Xin Zheng, Jing Li, Harlan M Krumholz
With the advent of international precision medicine initiatives, it is important to evaluate existing large-scale studies to inform future investigation. This study sought to review, describe, and evaluate all large-scale cardiovascular disease (CVD) studies completed in China. We undertook a review of all large-scale CVD studies completed in China to describe and evaluate their design, implementation, and dissemination in published medical reports. Seventeen studies met the inclusion criteria. There were substantial variations in study design, geographic location, and data collection...
December 13, 2017: Global Heart
https://www.readbyqxmd.com/read/29246028/challenges-and-future-of-biomarker-tests-in-the-era-of-precision-oncology-can-we-rely-on-immunohistochemistry-ihc-or-fluorescence-in-situ-hybridization-fish-to-select-the-optimal-patients-for-matched-therapy
#14
REVIEW
Young Kwang Chae, Ayush Arya, Lauren Chiec, Hiral Shah, Ari Rosenberg, Sandip Patel, Kirtee Raparia, Jaehyuk Choi, Derek A Wainwright, Victoria Villaflor, Massimo Cristofanilli, Francis Giles
Molecular techniques have improved our understanding of the pathogenesis of cancer development. These techniques have also fueled the rational development of targeted drugs for patient populations stratified by their genetic characteristics. These novel methods have changed the classic paradigm of diagnostic pathology; among them are IHC, FISH, polymerase chain reaction (PCR) and microarray technology. IHC and FISH detection methods for human epidermal growth factor receptor-2 (HER2), epidermal growth factor receptor (EGFR) and programmed death ligand-1 (PD-L1) were recently approved by the Food and Drug Administration (FDA) as routine clinical practice for cancer patients...
November 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/29242368/lessons-from-ckd-related-genetic-association-studies-moving-forward
#15
Sophie Limou, Nicolas Vince, Afshin Parsa
Over the past decade, genetic association studies have uncovered numerous determinants of kidney function in the general, diabetic, hypertensive, CKD, ESRD, and GN-based study populations (e.g., IgA nephropathy, membranous nephropathy, FSGS). These studies have led to numerous novel and unanticipated findings, which are helping improve our understanding of factors and pathways affecting both normal and pathologic kidney function. In this review, we report on major discoveries and advances resulting from this rapidly progressing research domain...
December 14, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29241890/value-of-information-analysis-of-multiparameter-tests-for-chemotherapy-in-early-breast-cancer-the-optima-prelim-trial
#16
RANDOMIZED CONTROLLED TRIAL
Peter S Hall, Alison Smith, Claire Hulme, Armando Vargas-Palacios, Andreas Makris, Luke Hughes-Davies, Janet A Dunn, John M S Bartlett, David A Cameron, Andrea Marshall, Amy Campbell, Iain R Macpherson, Dan Rea, Adele Francis, Helena Earl, Adrienne Morgan, Robert C Stein, Christopher McCabe
BACKGROUND: Precision medicine is heralded as offering more effective treatments to smaller targeted patient populations. In breast cancer, adjuvant chemotherapy is standard for patients considered as high-risk after surgery. Molecular tests may identify patients who can safely avoid chemotherapy. OBJECTIVES: To use economic analysis before a large-scale clinical trial of molecular testing to confirm the value of the trial and help prioritize between candidate tests as randomized comparators...
December 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/29240076/from-public-health-genomics-to-precision-public-health-a-20-year-journey
#17
REVIEW
Muin J Khoury, M Scott Bowen, Mindy Clyne, W David Dotson, Marta L Gwinn, Ridgely Fisk Green, Katherine Kolor, Juan L Rodriguez, Anja Wulf, Wei Yu
In this paper, we review the evolution of the field of public health genomics in the United States in the past two decades. Public health genomics focuses on effective and responsible translation of genomic science into population health benefits. We discuss the relationship of the field to the core public health functions and essential services, review its evidentiary foundation, and provide examples of current US public health priorities and applications. We cite examples of publications to illustrate how Genetics in Medicine reflected the evolution of the field...
December 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29239587/redefining-medical-care
#18
Lauren R Roth
President Donald J. Trump has said he will repeal the Affordable Care Act (ACA) and replace it with health savings accounts (HSAs). Conservatives have long preferred individual accounts to meet social welfare needs instead of more traditional entitlement programs. The types of "medical care" that can be reimbursed through an HSA are listed in section 213(d) of the Internal Revenue Code (Code) and include expenses "for the diagnosis, cure, mitigation, treatment, or prevention of disease, or for the purpose of affecting any structure or function of the body...
2017: Cornell Journal of Law and Public Policy
https://www.readbyqxmd.com/read/29238064/role-of-titin-in-cardiomyopathy-from-dna-variants-to-patient-stratification
#19
REVIEW
James S Ware, Stuart A Cook
Dilated cardiomyopathy (DCM) affects approximately 1 in 250 individuals and is the leading indication for heart transplantation. DCM is often familial, and the most common genetic predisposition is a truncating variation in the giant sarcomeric protein, titin, which occurs in up to 15% of ambulant patients with DCM and 25% of end-stage or familial cases. In this article, we review the evidence for the role of titin truncation in the pathogenesis of DCM and our understanding of the molecular mechanisms and pathophysiological consequences of variation in the gene encoding titin (TTN)...
December 14, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/29237706/patient-characteristics-resource-use-and-outcomes-associated-with-general-internal-medicine-hospital-care-the-general-medicine-inpatient-initiative-gemini-retrospective-cohort-study
#20
Amol A Verma, Yishan Guo, Janice L Kwan, Lauren Lapointe-Shaw, Shail Rawal, Terence Tang, Adina Weinerman, Peter Cram, Irfan A Dhalla, Stephen W Hwang, Andreas Laupacis, Muhammad M Mamdani, Steven Shadowitz, Ross Upshur, Robert J Reid, Fahad Razak
BACKGROUND: The precise scope of hospital care delivered under general internal medicine services remains poorly quantified. The purpose of this study was to describe the demographic characteristics, medical conditions, health outcomes and resource use of patients admitted to general internal medicine at 7 hospital sites in the Greater Toronto Area. METHODS: This was a retrospective cohort study involving all patients who were admitted to or discharged from general internal medicine at the study sites between Apr...
December 11, 2017: CMAJ Open
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