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https://www.readbyqxmd.com/read/27926887/the-application-of-genomics-in-diabetes-barriers-to-discovery-and-implementation
#1
James S Floyd, Bruce M Psaty
The emerging availability of genomic and electronic health data in large populations is a powerful tool for research that has drawn interest in bringing precision medicine to diabetes. In this article, we discuss the potential application of genomics to the prediction, prevention, and treatment of diabetes, and we use examples from other areas of medicine to illustrate some of the challenges involved in conducting genomics research in human populations and implementing findings in practice. At this time, a major barrier to the application of genomics in diabetes care is the lack of actionable genomic findings...
November 2016: Diabetes Care
https://www.readbyqxmd.com/read/27921034/crowdsourcing-precision-cerebrovascular-health-imaging-and-cloud-seeding-a-million-brains-initiative%C3%A2
#2
David S Liebeskind
Crowdsourcing, an unorthodox approach in medicine, creates an unusual paradigm to study precision cerebrovascular health, eliminating the relative isolation and non-standardized nature of current imaging data infrastructure, while shifting emphasis to the astounding capacity of big data in the cloud. This perspective envisions the use of imaging data of the brain and vessels to orient and seed A Million Brains Initiative™ that may leapfrog incremental advances in stroke and rapidly provide useful data to the sizable population around the globe prone to the devastating effects of stroke and vascular substrates of dementia...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27919057/principles-of-precision-medicine-in-stroke
#3
REVIEW
Jason D Hinman, Natalia S Rost, Thomas W Leung, Joan Montaner, Keith W Muir, Scott Brown, Juan F Arenillas, Edward Feldmann, David S Liebeskind
The era of precision medicine has arrived and conveys tremendous potential, particularly for stroke neurology. The diagnosis of stroke, its underlying aetiology, theranostic strategies, recurrence risk and path to recovery are populated by a series of highly individualised questions. Moreover, the phenotypic complexity of a clinical diagnosis of stroke makes a simple genetic risk assessment only partially informative on an individual basis. The guiding principles of precision medicine in stroke underscore the need to identify, value, organise and analyse the multitude of variables obtained from each individual to generate a precise approach to optimise cerebrovascular health...
October 19, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27914982/nanotopography-controls-cell-cycle-changes-involved-with-skeletal-stem-cell-self-renewal-and-multipotency
#4
Louisa C Y Lee, Nikolaj Gadegaard, María C de Andrés, Lesley-Anne Turner, Karl V Burgess, Stephen J Yarwood, Julia Wells, Manuel Salmeron-Sanchez, Dominic Meek, Richard O C Oreffo, Matthew J Dalby
In culture isolated bone marrow mesenchymal stem cells (more precisely termed skeletal stem cells, SSCs) spontaneously differentiate into fibroblasts, preventing the growth of large numbers of multipotent SSCs for use in regenerative medicine. However, the mechanisms that regulate the expansion of SSCs, while maintaining multipotency and preventing fibroblastic differentiation are poorly understood. Major hurdles to understanding how the maintenance of SSCs is regulated are (a) SSCs isolated from bone marrow are heterogeneous populations with different proliferative characteristics and (b) a lack of tools to investigate SSC number expansion and multipotency...
November 24, 2016: Biomaterials
https://www.readbyqxmd.com/read/27899774/-a-review-multigene-assays-for-clinical-utility-in-breast-cancer
#5
Kazuhiro Araki, Yoshinori Ito
Multigene assays that simultaneously measure the expression of various breast cancer genes have been developed to guide the use of adjuvant chemotherapy in early breast cancer. The efficacy of adjuvant therapies depends on the recurrence risk for an individual patient. As a result, accurate prediction of the recurrence risk is vital for precise adjuvant chemotherapy in individual breast cancer patients. The recurrence risk as typically assessed by conventional examination of histological data of immuno-histological biomarkers(ER, PR, HER2, and Ki-67)is not sufficient to select subsets of patients...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/27897016/open-data-for-discovery-science
#6
Philip R O Payne, Kun Huang, Nigam H Shah, Jessica Tenenbaum
The modern healthcare and life sciences ecosystem is moving towards an increasingly open and data-centric approach to discovery science. This evolving paradigm is predicated on a complex set of information needs related to our collective ability to share, discover, reuse, integrate, and analyze open biological, clinical, and population level data resources of varying composition, granularity, and syntactic or semantic consistency. Such an evolution is further impacted by a concomitant growth in the size of data sets that can and should be employed for both hypothesis discovery and testing...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27896989/opening-the-door-to-the-large-scale-use-of-clinical-lab-measures-for-association-testing-exploring-different-methods-for-defining-phenotypes
#7
Christopher R Bauer, Daniel Lavage, John Snyder, Joseph Leader, J Matthew Mahoney, Sarah A Pendergrass
The past decade has seen exponential growth in the numbers of sequenced and genotyped individuals and a corresponding increase in our ability of collect and catalogue phenotypic data for use in the clinic. We now face the challenge of integrating these diverse data in new ways new that can provide useful diagnostics and precise medical interventions for individual patients. One of the first steps in this process is to accurately map the phenotypic consequences of the genetic variation in human populations. The most common approach for this is the genome wide association study (GWAS)...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27893495/integration-of-eeg-into-psychiatric-practice-a-step-toward-precision-medicine-for-autism-spectrum-disorder
#8
Ronald J Swatzyna, Jay D Tarnow, Robert P Turner, Alexandra J Roark, Erin K MacInerney, Gerald P Kozlowski
INTRODUCTION: Data from an EEG is not commonly used by psychiatrists to plan treatment and medication. However, EEG abnormalities such as isolated epileptiform discharges (IEDs) are found to be more prevalent in psychiatric patients, particularly those diagnosed with Autism Spectrum Disorder (ASD). Most medications prescribed for ASD lower seizure threshold and increase side-effects. Therefore, it may be prudent to order an EEG for ASD cases, especially those categorized as refractory...
November 22, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/27882345/institutional-implementation-of-clinical-tumor-profiling-on-an-unselected-cancer-population
#9
Lynette M Sholl, Khanh Do, Priyanka Shivdasani, Ethan Cerami, Adrian M Dubuc, Frank C Kuo, Elizabeth P Garcia, Yonghui Jia, Phani Davineni, Ryan P Abo, Trevor J Pugh, Paul van Hummelen, Aaron R Thorner, Matthew Ducar, Alice H Berger, Mizuki Nishino, Katherine A Janeway, Alanna Church, Marian Harris, Lauren L Ritterhouse, Joshua D Campbell, Vanesa Rojas-Rudilla, Azra H Ligon, Shakti Ramkissoon, James M Cleary, Ursula Matulonis, Geoffrey R Oxnard, Richard Chao, Vanessa Tassell, James Christensen, William C Hahn, Philip W Kantoff, David J Kwiatkowski, Bruce E Johnson, Matthew Meyerson, Levi A Garraway, Geoffrey I Shapiro, Barrett J Rollins, Neal I Lindeman, Laura E MacConaill
BACKGROUND. Comprehensive genomic profiling of a patient's cancer can be used to diagnose, monitor, and recommend treatment. Clinical implementation of tumor profiling in an enterprise-wide, unselected cancer patient population has yet to be reported. METHODS. We deployed a hybrid-capture and massively parallel sequencing assay (OncoPanel) for all adult and pediatric patients at our combined cancer centers. Results were categorized by pathologists based on actionability. We report the results for the first 3,727 patients tested...
November 17, 2016: JCI Insight
https://www.readbyqxmd.com/read/27881215/birth-of-an-asian-cool-reference-genome-ak1
#10
Changhoon Kim
The human reference genome, maintained by Genome Reference Consortium, is conceivably the most complete genome assembly ever since its first construction. It has been improved continually by incorporating corrections made to the previous assemblies thanks to various technological advances. Based on this reference genome, many population sequencing projects are ongoing to better represent human diversity, increasing hope for medical usage of genomic information, with recent maturation of the high-throughput sequencing technologies...
November 24, 2016: BMB Reports
https://www.readbyqxmd.com/read/27881091/conducting-a-large-multi-site-survey-about-patients-views-on-broad-consent-challenges-and-solutions
#11
Maureen E Smith, Saskia C Sanderson, Kyle B Brothers, Melanie F Myers, Jennifer McCormick, Sharon Aufox, Martha J Shrubsole, Nanibaá A Garrison, Nathaniel D Mercaldo, Jonathan S Schildcrout, Ellen Wright Clayton, Armand H Matheny Antommaria, Melissa Basford, Murray Brilliant, John J Connolly, Stephanie M Fullerton, Carol R Horowitz, Gail P Jarvik, Dave Kaufman, Terri Kitchner, Rongling Li, Evette J Ludman, Catherine McCarty, Valerie McManus, Sarah Stallings, Janet L Williams, Ingrid A Holm
BACKGROUND: As biobanks play an increasing role in the genomic research that will lead to precision medicine, input from diverse and large populations of patients in a variety of health care settings will be important in order to successfully carry out such studies. One important topic is participants' views towards consent and data sharing, especially since the 2011 Advanced Notice of Proposed Rulemaking (ANPRM), and subsequently the 2015 Notice of Proposed Rulemaking (NPRM) were issued by the Department of Health and Human Services (HHS) and Office of Science and Technology Policy (OSTP)...
November 24, 2016: BMC Medical Research Methodology
https://www.readbyqxmd.com/read/27866835/over-using-chemotherapy-in-the-adjuvant-setting
#12
Giuseppe Curigliano, Carmen Criscitiello, Angela Esposito, Giancarlo Pruneri
Avoidance of unnecessary or ineffective treatment should be one of the main goals in adjuvant breast oncology today. Unfortunately, both patients and doctors hunt for tiny statistical differences in survival curves. This search could not only lead to an oncological approach of unlimited addition that we will not be able to afford, but would also end inevitably in indeterminate overtreatment with substantial risks of unexpected toxic effects eating away whatever progress we might make. "Do not harm" remains the main principle in medicine...
November 17, 2016: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/27866095/continuing-egfr-inhibition-beyond-progression-in-advanced-non-small-cell-lung-cancer
#13
REVIEW
Timothy A Yap, Aislinn Macklin-Doherty, Sanjay Popat
The majority of patients with epidermal growth factor receptor (EGFR) mutant non-small cell lung cancer (NSCLC) respond to first-line EGFR tyrosine kinase inhibitors (TKIs), but nearly all inevitably acquire resistance and develop disease progression. Conventional practice would be to switch treatments to second-line therapy. However, continuing TKIs beyond progression is becoming increasingly commonplace in patients with indolent, small volume asymptomatic growth, who may potentially continue to derive ongoing clinical benefit and to avoid a 'withdrawal tumour flare'...
November 17, 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/27864403/using-group-data-to-treat-individuals-understanding-heterogeneous-treatment-effects-in-the-age-of-precision-medicine-and-patient-centred-evidence
#14
REVIEW
Issa J Dahabreh, Rodney Hayward, David M Kent
Although often conflated, determining the best treatment for an individual (the task of a doctor) is fundamentally different from determining the average effect of treatment in a population (the purpose of a trial). In this paper, we review concepts of heterogeneity of treatment effects (HTE) essential in providing the evidence base for precision medicine and patient-centred care, and explore some inherent limitations of using group data (e.g. from a randomized trial) to guide treatment decisions for individuals...
November 17, 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/27862583/how-to-define-pathogenicity-health-and-disease
#15
Mauno Vihinen
Scientific and clinical communities produce ever increasing amounts of data and details about health and disease. Our ability to understand and utilize this information is limited because of imprecise language and lack of well-defined concepts. This problem involves also the principal concepts of health, disease, and pathogenicity. Here, a systematic model is presented for pathogenicity, as well as for health and disease. It has three components: extent, modulation, and severity, which jointly define the continuum of pathogenicity...
November 9, 2016: Human Mutation
https://www.readbyqxmd.com/read/27854133/focusing-on-developmental-origins-and-disease-inception-for-the-prevention-of-pulmonary-hypertension
#16
Bradley A Maron, Steven H Abman
Despite the growing armamentarium of therapies, pulmonary vascular disease continues to cause significant morbidity and mortality in neonates, children and adults in diverse clinical settings. To address this challenge, a strategic shift is underway that emphasizes disease recognition prior to the onset of clinical signs and symptoms when substantial pulmonary vascular remodeling is already present. Specifically, there is growing interest regarding the i) molecular events that define pulmonary vascular disease inception, ii) range of early cardiopulmonary hemodynamic measures that are associated with adverse outcome, and iii) widening utility of exercise for risk-stratification...
November 17, 2016: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27849442/to-genotype-or-phenotype-for-personalized-medicine-cyp450-drug-metabolizing-enzyme-genotype-phenotype-concordance-and-discordance-in-the-ecuadorian-population
#17
Fernando De Andrés, Santiago Terán, Francisco Hernández, Enrique Terán, Adrián LLerena
Genetic variations within the cytochrome P450 (CYP450) superfamily of drug metabolizing enzymes confer substantial person-to-person and between-population differences in pharmacokinetics, and by extension, highly variable clinical effects of medicines. In this context, "personalized medicine," "precision medicine," and "stratified medicine" are related concepts attributed to what is essentially targeted therapeutics and companion diagnostics, aimed at improving safety and effectiveness of health interventions...
December 2016: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/27847416/infrared-thermography-a-potential-noninvasive-tool-to-monitor-udder-health-status-in-dairy-cows
#18
REVIEW
M Sathiyabarathi, S Jeyakumar, A Manimaran, G Jayaprakash, Heartwin A Pushpadass, M Sivaram, K P Ramesha, D N Das, Mukund A Kataktalware, M Arul Prakash, R Dhinesh Kumar
The animal husbandry and livestock sectors play a major role in the rural economy, especially for the small and marginal farmers. India has the largest livestock population in the world and ranks first in the milk production. Mastitis is the most common and expensive infectious disease in dairy cattle. The global economic losses per year due to mastitis amounts to USD 35 billion and for Indian dairy industry ₹6000 crores per year. Early detection of mastitis is very important to reduce the economic loss to the dairy farmers and dairy industry...
October 2016: Veterinary World
https://www.readbyqxmd.com/read/27835996/developing-precision-medicine-for-people-of-east-asian-descent
#19
REVIEW
Stacy L McAllister, Katherine Sun, Eric R Gross
The goal of precision medicine is to separate patient populations into groups to ultimately provide customized care tailored to patients. In terms of precision medicine, ~540 million people in the world have a genetic variant of the aldehyde dehydrogenase 2 (ALDH2) enzyme causing a flushing response and tachycardia after alcohol consumption. The genetic variant is identified as ALDH2*2 and originates from East Asian descendants of the Han Chinese. The variant is particularly important to consider when discussing lifestyle choices with patients in terms of risk for developing specific diseases, preventative screening, and selection of medications for treatment...
November 11, 2016: Journal of Biomedical Science
https://www.readbyqxmd.com/read/27830255/aspiring-to-unintended-consequences-of-natural-language-processing-a-review-of-recent-developments-in-clinical-and-consumer-generated-text-processing
#20
D Demner-Fushman, N Elhadad
OBJECTIVES: This paper reviews work over the past two years in Natural Language Processing (NLP) applied to clinical and consumer-generated texts. METHODS: We included any application or methodological publication that leverages text to facilitate healthcare and address the health-related needs of consumers and populations. RESULTS: Many important developments in clinical text processing, both foundational and task-oriented, were addressed in community- wide evaluations and discussed in corresponding special issues that are referenced in this review...
November 10, 2016: Yearbook of Medical Informatics
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