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Precision medicine population

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https://www.readbyqxmd.com/read/28286989/a-precision-medicine-initiative-for-alzheimer-s-disease-the-road-ahead-to-biomarker-guided-integrative-disease-modeling
#1
REVIEW
H Hampel, S E O'Bryant, S Durrleman, E Younesi, K Rojkova, V Escott-Price, J-C Corvol, K Broich, B Dubois, S Lista
After intense scientific exploration and more than a decade of failed trials, Alzheimer's disease (AD) remains a fatal global epidemic. A traditional research and drug development paradigm continues to target heterogeneous late-stage clinically phenotyped patients with single 'magic bullet' drugs. Here, we propose that it is time for a paradigm shift towards the implementation of precision medicine (PM) for enhanced risk screening, detection, treatment, and prevention of AD. The overarching structure of how PM for AD can be achieved will be provided through the convergence of breakthrough technological advances, including big data science, systems biology, genomic sequencing, blood-based biomarkers, integrated disease modeling and P4 medicine...
April 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28282717/path-to-personalized-medicine-for-type-2-diabetes-mellitus-reality-and-hope
#2
Hamid Reza Aghaei Meybodi, Mandana Hasanzad, Bagher Larijani
Type 2 diabetes mellitus (T2DM) is recognized as a public health problem and increasingly prevalent illness. Key elements of the guideline for diabetes care are based on evidence-based medicine approach and apply for population, not individuals. However, individualized care can improve diabetes management. Personalized medicine is otherwise called precision medicine tries to find better prediction, prevention, and intervention for T2DM individuals. Precision medicine in diabetes refers to the utility of genomics data of a patient with diabetes to provide the most effective diagnosis strategies and treatment plans...
March 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28282715/personalized-regenerative-medicine
#3
Babak Arjmand, Parisa Goodarzi, Fereshteh Mohamadi-Jahani, Khadijeh Falahzadeh, Bagher Larijani
Personalized medicine as a novel field of medicine refers to the prescription of specific therapeutics procedure for an individual. This approach has established based on pharmacogenetic and pharmacogenomic information and data. The terms precision and personalized medicines are sometimes applied interchangeably. However, there has been a shift from "personalized medicine" towards "precision medicine". Although personalized medicine emerged from pharmacogenetics, nowadays it covers many fields of healthcare...
March 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28276633/public-health-and-precision-medicine-share-a-goal
#4
Asokan G Vaithinathan, Vanitha Asokan
The advances made in genomics and molecular tools aid public health programs in the investigation of outbreaks and control of diseases by taking advantage of the precision medicine. Precision medicine means "segregating the individuals into subpopulations who vary in their disease susceptibility and response to a precise treatment" and not merely designing of drugs or creation of medical devices. By 2017, the United Kingdom 100,000 Genomes Project is expected to sequence 100,000 genomes from 70,000 patients...
December 16, 2016: Journal of Evidence-based Medicine
https://www.readbyqxmd.com/read/28274726/a-population-genetics-perspective-on-the-determinants-of-intra-tumor-heterogeneity
#5
Zheng Hu, Ruping Sun, Christina Curtis
Cancer results from the acquisition of somatic alterations in a microevolutionary process that typically occurs over many years, much of which is occult. Understanding the evolutionary dynamics that are operative at different stages of progression in individual tumors might inform the earlier detection, diagnosis, and treatment of cancer. Although these processes cannot be directly observed, the resultant spatiotemporal patterns of genetic variation amongst tumor cells encode their evolutionary histories. Such intra-tumor heterogeneity is pervasive not only at the genomic level, but also at the transcriptomic, phenotypic, and cellular levels...
March 5, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28271978/lessons-from-cuba-for-global-precision-medicine-cyp2d6-genotype-is-not-a-robust-predictor-of-cyp2d6-ultrarapid-metabolism
#6
Pedro Dorado, Idilio González, María Eugenia G Naranjo, Fernando de Andrés, Eva María Peñas-Lledó, Luis Ramón Calzadilla, Adrián LLerena
A long-standing question and dilemma in precision medicine is whether and to what extent genotyping or phenotyping drug metabolizing enzymes such as CYP2D6 can be used in real-life global clinical and societal settings. Although in an ideal world using both genotype and phenotype biomarkers are desirable, this is not always feasible for economic and practical reasons. Moreover, an additional barrier for clinical implementation of precision medicine is the lack of correlation between genotype and phenotype, considering that most of the current methods include only genotyping...
January 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28266713/personalised-dosing-of-medicines-for-children
#7
REVIEW
Basma Al-Metwali, Hussain Mulla
OBJECTIVES: Doses for most drugs are determined from population-level information, resulting in a standard ?one-size-fits-all' dose range for all individuals. This review explores how doses can be personalised through the use of the individuals' pharmacokinetic (PK)-pharmacodynamic (PD) profile, its particular application in children, and therapy areas where such approaches have made inroads. KEY FINDINGS: The Bayesian forecasting approach, based on population PK/PD models that account for variability in exposure and response, is a potent method for personalising drug therapy...
March 7, 2017: Journal of Pharmacy and Pharmacology
https://www.readbyqxmd.com/read/28257413/uncovering-precision-phenotype-biomarker-associations-in-traumatic-brain-injury-using-topological-data-analysis
#8
Jessica L Nielson, Shelly R Cooper, John K Yue, Marco D Sorani, Tomoo Inoue, Esther L Yuh, Pratik Mukherjee, Tanya C Petrossian, Jesse Paquette, Pek Y Lum, Gunnar E Carlsson, Mary J Vassar, Hester F Lingsma, Wayne A Gordon, Alex B Valadka, David O Okonkwo, Geoffrey T Manley, Adam R Ferguson
BACKGROUND: Traumatic brain injury (TBI) is a complex disorder that is traditionally stratified based on clinical signs and symptoms. Recent imaging and molecular biomarker innovations provide unprecedented opportunities for improved TBI precision medicine, incorporating patho-anatomical and molecular mechanisms. Complete integration of these diverse data for TBI diagnosis and patient stratification remains an unmet challenge. METHODS AND FINDINGS: The Transforming Research and Clinical Knowledge in Traumatic Brain Injury (TRACK-TBI) Pilot multicenter study enrolled 586 acute TBI patients and collected diverse common data elements (TBI-CDEs) across the study population, including imaging, genetics, and clinical outcomes...
2017: PloS One
https://www.readbyqxmd.com/read/28255928/a-systematic-review-of-randomized-controlled-trials-to-assess-outcomes-of-genetic-counseling
#9
REVIEW
Barbara A Athens, Samantha L Caldwell, Kendall L Umstead, Philip D Connors, Ethan Brenna, Barbara B Biesecker
With the advancements in precision medicine and health care reform, it is critical that genetic counseling practice respond to emerging evidence to maximize client benefit. The objective of this review was to synthesize evidence on outcomes from randomized controlled trials (RCTs) of genetic counseling to inform clinical practice. Seven databases were searched in conducting this review. Studies were selected for inclusion if they were: (a) RCTs published from 1990 to 2015, and (b) assessed a direct outcome of genetic counseling...
March 2, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28254567/complexity-in-cancer-stem-cells-and-tumor-evolution-toward-precision-medicine
#10
REVIEW
Caterina A M La Porta, Stefano Zapperi
In this review, we discuss recent advances on the plasticity of cancer stem cells and highlight their relevance to understand the metastatic process and to guide therapeutic interventions. Recent results suggest that the strict hierarchical structure of cancer cell populations advocated by the cancer stem cell model must be reconsidered since the depletion of cancer stem cells leads the other tumor cells to switch back into the cancer stem cell phenotype. This plasticity has important implications for metastasis since migrating cells do not need to be cancer stem cells in order to seed a metastasis...
February 23, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/28253084/organic-cation-transporter-2-oct2-slc22a2-gene-variation-in-the-south-african-bantu-speaking-population-and-functional-promoter-variants
#11
Nina C Wilson, Ananyo Choudhury, Nadia Carstens, Demetra Mavri-Damelin
SLC22A2 facilitates the transport of endogenous and exogenous cationic compounds. Many pharmacologically significant compounds are transported by SLC22A2, including the antidiabetic drug metformin, anticancer agent cisplatin, and antiretroviral lamivudine. Genetic polymorphisms in SLC22A2 can modify the pharmacokinetic profiles of such important medicines and could therefore prove useful as precision medicine biomarkers. Since the frequency of SLC22A2 polymorphisms varies among different ethnic populations, we evaluated these in South African Bantu speakers, a majority group in the South African population, who exhibit unique genetic diversity, and we subsequently functionally characterized promoter polymorphisms...
March 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28251590/towards-precision-addiction-treatment-new-findings-in-co-morbid-substance-use-and-attention-deficit-hyperactivity-disorders
#12
REVIEW
Sean X Luo, Frances R Levin
Attention-deficit hyperactivity disorder (ADHD) and substance use disorders (SUDs) may have common etiologies. ADHD is more prevalent in patients with substance use disorders, and this pattern is consistent across different substances of abuse. Individuals with SUDs and ADHD exhibit significant variations in their clinical presentations. The developmental trajectory of ADHD to SUDs is complex: ADHD symptoms appear first in some patients but not in others. Many patients present with a heterogeneous collection of psychiatric and substance use co-morbidities, and these symptoms change over time...
March 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28251059/challenges-of-bone-tissue-engineering-in-orthopaedic-patients
#13
EDITORIAL
Enrique Guerado, Enrique Caso
Bone defects may impede normal biomechanics and the structural stability of bone as an organ. In many cases, the correction of bone defects requires extensive surgical intervention involving the use of bone-grafting techniques and other procedures in which healing is slow, there is a high risk of infection and considerable pain is provoked - with no guarantee of complete correction of the defect. Therefore, the search for surgical alternatives continues to present a major challenge in orthopaedic traumatology...
February 18, 2017: World Journal of Orthopedics
https://www.readbyqxmd.com/read/28231035/biologically-relevant-heterogeneity-metrics-and-practical-insights
#14
Albert Gough, Andrew M Stern, John Maier, Timothy Lezon, Tong-Ying Shun, Chakra Chennubhotla, Mark E Schurdak, Steven A Haney, D Lansing Taylor
Heterogeneity is a fundamental property of biological systems at all scales that must be addressed in a wide range of biomedical applications, including basic biomedical research, drug discovery, diagnostics, and the implementation of precision medicine. There are a number of published approaches to characterizing heterogeneity in cells in vitro and in tissue sections. However, there are no generally accepted approaches for the detection and quantitation of heterogeneity that can be applied in a relatively high-throughput workflow...
March 2017: SLAS Discov
https://www.readbyqxmd.com/read/28221991/detecting-clinically-meaningful-shape-clusters-in-medical-image-data-metrics-analysis-for-hierarchical-clustering-applied-to-healthy-and-pathological-aortic-arches
#15
Jan L Bruse, Maria A Zuluaga, Abbas Khushnood, Kristin McLeod, Hopewell N Ntsinjana, Tain-Yen Hsia, Maxime Sermesant, Xavier Pennec, Andrew M Taylor, Silvia Schievano
OBJECTIVE: Today's growing medical image databases call for novel processing tools to structure the bulk of data and extract clinically relevant information. Unsupervised hierarchical clustering may reveal clusters within anatomical shape data of patient populations as required for modern Precision Medicine strategies. Few studies have applied hierarchical clustering techniques to three-dimensional patient shape data and results depend heavily on the chosen clustering distance metrics and linkage functions...
February 16, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28214526/recent-advances-in-human-genetics-and-epigenetics-of-adiposity-pathway-to-precision-medicine
#16
Tove Fall, Michael Mendelson, Elizabeth K Speliotes
Obesity is a heritable trait that contributes to substantial global morbidity and mortality. Here, we summarize findings from the last decade of genetic and epigenetic research focused on unravelling the underpinnings of adiposity. More than 140 genetic regions are now known to influence adiposity traits. The genetics of general adiposity, as measured by body mass index, and that of abdominal obesity, as measured by waist to hip ratio, have distinct biological backgrounds. Expression of genes associated with general adiposity are enriched in the nervous system...
February 15, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28212969/lessons-learned-when-introducing-pharmacogenomic-panel-testing-into-clinical-practice
#17
Marc B Rosenman, Brian Decker, Kenneth D Levy, Ann M Holmes, Victoria M Pratt, Michael T Eadon
OBJECTIVES: Implementing new programs to support precision medicine in clinical settings is a complex endeavor. We describe challenges and potential solutions based on the Indiana GENomics Implementation: an Opportunity for the Underserved (INGenious) program at Eskenazi Health-one of six sites supported by the Implementing GeNomics In pracTicE network grant of the National Institutes of Health/National Human Genome Research Institute. INGenious is an implementation of a panel of genomic tests...
January 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/28197806/recruiting-families-at-risk-for-hereditary-breast-and-ovarian-cancer-from-a-statewide-cancer-registry-a-methodological-study
#18
Maria C Katapodi, Deb Duquette, James J Yang, Kari Mendelsohn-Victor, Beth Anderson, Christos Nikolaidis, Emily Mancewicz, Laurel L Northouse, Sonia Duffy, David Ronis, Kara J Milliron, Nicole Probst-Herbst, Sofia D Merajver, Nancy K Janz, Glenn Copeland, Scott Roberts
PURPOSE: Cancer genetic services (counseling/testing) are recommended for women diagnosed with breast cancer younger than 45 years old (young breast cancer survivors-YBCS) and at-risk relatives. We present recruitment of YBCS, identification and recruitment of at-risk relatives, and YBCS willingness to contact their cancer-free, female relatives. METHODS: A random sample of 3,000 YBCS, stratified by race (Black vs. White/Other), was identified through a population-based cancer registry and recruited in a randomized trial designed to increase use of cancer genetic services...
March 2017: Cancer Causes & Control: CCC
https://www.readbyqxmd.com/read/28188191/payer-coverage-for-hereditary-cancer-panels-barriers-opportunities-and-implications-for-the-precision-medicine-initiative
#19
Julia R Trosman, Christine B Weldon, Michael P Douglas, Allison W Kurian, R Kate Kelley, Patricia A Deverka, Kathryn A Phillips
Background: Hereditary cancer panels (HCPs), testing for multiple genes and syndromes, are rapidly transforming cancer risk assessment but are controversial and lack formal insurance coverage. We aimed to identify payers' perspectives on barriers to HCP coverage and opportunities to address them. Comprehensive cancer risk assessment is highly relevant to the Precision Medicine Initiative (PMI), and payers' considerations could inform PMI's efforts. We describe our findings and discuss them in the context of PMI priorities...
February 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28167869/bearings-in-hip-arthroplasty-joint-registries-vs-precision-medicine-review-article
#20
REVIEW
Mark J Pearson, Liam M Grover, Janet M Lord, Simon W Jones, Edward T Davis
BACKGROUND: Precision medicine has been adopted in a range of clinical settings where omics data have led to greater characterisation of disease and stratification of patients into subcategories of phenotypes and pathologies. However, in orthopaedics, precision medicine lags behind other disciplines such as cancer. Joint registries have now amassed a huge body of data pertaining to implant performance which can be broken down into performance statistics for different material types in different cohorts of patients...
February 2017: HSS Journal: the Musculoskeletal Journal of Hospital for Special Surgery
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