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Journal of Personalized Medicine

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https://www.readbyqxmd.com/read/30189667/a-metabolomics-approach-to-pharmacotherapy-personalization
#1
REVIEW
Elena E Balashova, Dmitry L Maslov, Petr G Lokhov
The optimization of drug therapy according to the personal characteristics of patients is a perspective direction in modern medicine. One of the possible ways to achieve such personalization is through the application of "omics" technologies, including current, promising metabolomics methods. This review demonstrates that the analysis of pre-dose metabolite biofluid profiles allows clinicians to predict the effectiveness of a selected drug treatment for a given individual. In the review, it is also shown that the monitoring of post-dose metabolite profiles could allow clinicians to evaluate drug efficiency, the reaction of the host to the treatment, and the outcome of the therapy...
September 5, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/30142941/design-of-a-controlled-trial-of-cascade-screening-for-hypercholesterolemia-the-cash-study
#2
Iftikhar J Kullo, Kent R Bailey
To inform guidelines for screening family members of patients with familial hypercholesterolemia (FH), we designed a clinical trial to compare the yield of cascade screening in FH patients with and without an identifiable pathogenic variant. Participants with hypercholesterolemia (Low-density lipoprotein cholesterol (LDL-C) > 155 mg/dL) underwent sequencing of LDLR , APOB , and PCSK9 and genotyping of six single nucleotide polymorphisms associated with LDL-C followed by calculation of a polygenic score for LDL-C...
August 23, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/30082654/gene-metabolite-interaction-in-the-one-carbon-metabolism-pathway-predictors-of-colorectal-cancer-in-multi-ethnic-families
#3
S Pamela K Shiao, James Grayson, Chong Ho Yu
For personalized healthcare, the purpose of this study was to examine the key genes and metabolites in the one-carbon metabolism (OCM) pathway and their interactions as predictors of colorectal cancer (CRC) in multi-ethnic families. In this proof-of-concept study, we included a total of 30 participants, 15 CRC cases and 15 matched family/friends representing major ethnic groups in southern California. Analytics based on supervised machine learning were applied, with the target variable being specified as cancer, including the ensemble method and generalized regression (GR) prediction...
August 6, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/30046027/early-outcome-data-assessing-utility-of-a-post-test-genomic-counseling-framework-for-the-scalable-delivery-of-precision-health
#4
Amy C Sturm, Tara Schmidlen, Laura Scheinfeldt, Shelly Hovick, Joseph P McElroy, Amanda E Toland, J Scott Roberts, Kevin Sweet
Information on patients' preferences is essential to guide the development of more efficient genomic counseling service delivery models. We examined patient preferences in the context of use of a post-test genomic counseling framework on patients ( n = 44) with chronic disease receiving online test reports for eight different diseases and one drug-response result. We also explored patients' disease risk awareness, recall of test report information, and confidence in knowing what to do with their test results...
July 25, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/30042363/physician-reported-benefits-and-barriers-to-clinical-implementation-of-genomic-medicine-a-multi-site-ignite-network-survey
#5
Aniwaa Owusu Obeng, Kezhen Fei, Kenneth D Levy, Amanda R Elsey, Toni I Pollin, Andrea H Ramirez, Kristin W Weitzel, Carol R Horowitz
Genetic medicine is one of the key components of personalized medicine, but adoption in clinical practice is still limited. To understand potential barriers and provider attitudes, we surveyed 285 physicians from five Implementing GeNomics In pracTicE (IGNITE) sites about their perceptions as to the clinical utility of genetic data as well as their preparedness to integrate it into practice. These responses were also analyzed in comparison to the type of study occurring at the physicians' institution (pharmacogenetics versus disease genetics)...
July 24, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29973520/preface-to-special-issue-on-cytochrome-p450-variation-in-pharmacogenomics
#6
EDITORIAL
Allan E Rettie, Stephen B Liggett
No abstract text is available yet for this article.
July 4, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29958440/warfarin-the-end-or-the-end-of-one-size-fits-all-therapy
#7
REVIEW
Munir Pirmohamed
Oral anticoagulants are required for both treatment and prophylaxis in many different diseases. Clinicians and patients now have a choice of oral anticoagulants, including the vitamin K antagonists (of which warfarin is the most widely used and is used as the exemplar in this paper), and direct oral anticoagulants (DOACs: dabigatran, apixaban, rivaroxaban, and edoxaban). This paper explores the recent advances and controversies in oral anticoagulation. While some commentators may favour a complete switchover to DOACs, this paper argues that warfarin still has a place in therapy, and a stratified approach that enables the correct choice of both drug and dose would improve both patient outcomes and affordability...
June 28, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29949895/willingness-to-participate-in-a-national-precision-medicine-cohort-attitudes-of-chronic-kidney-disease-patients-at-a-cleveland-public-hospital
#8
Jessica N Cooke Bailey, Dana C Crawford, Aaron Goldenberg, Anne Slaven, Julie Pencak, Marleen Schachere, William S Bush, John R Sedor, John F O'Toole
Multiple ongoing, government-funded national efforts longitudinally collect health data and biospecimens for precision medicine research with ascertainment strategies increasingly emphasizing underrepresented groups in biomedical research. We surveyed chronic kidney disease patients from an academic, public integrated tertiary care system in Cleveland, Ohio, to examine local attitudes toward participation in large-scale government-funded studies. Responses ( n = 103) indicate the majority (71%) would participate in a hypothetical national precision medicine cohort and were willing to send biospecimens to a national repository and share de-identified data, but <50% of respondents were willing to install a phone app to track personal data...
June 26, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29786664/enable-2017-the-first-european-phd-and-post-doc-symposium-session-3-in-vitro-to-in-vivo-modeling-life-in-3d
#9
Gianmarco Di Mauro, Ambra Dondi, Giovanni Giangreco, Alexander Hogrebe, Elja Louer, Elisa Magistrati, Meeli Mullari, Gemma Turon, Wouter Verdurmen, Helena Xicoy Cortada, Sanja Zivanovic
The EUROPEAN ACADEMY FOR BIOMEDICAL SCIENCE (ENABLE) is an initiative funded by the European Union Horizon 2020 program involving four renowned European research institutes (Institute for Research in Biomedicine-IRB Barcelona, Spain; Radboud Institute for Molecular Life Sciences-RIMLS, the Netherlands; Novo Nordisk Foundation Center for Protein Research-NNF CPR, Denmark; European School of Molecular Medicine-SEMM, Italy) and an innovative science communication agency (Scienseed). With the aim to promote biomedical science of excellence in Europe, ENABLE organizes an annual three-day international event...
May 22, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29772692/insurance-coverage-policies-for-pharmacogenomic-and-multi-gene-testing-for-cancer
#10
Christine Y Lu, Stephanie Loomer, Rachel Ceccarelli, Kathleen M Mazor, James Sabin, Ellen Wright Clayton, Geoffrey S Ginsburg, Ann Chen Wu
Insurance coverage policies are a major determinant of patient access to genomic tests. The objective of this study was to examine differences in coverage policies for guideline-recommended pharmacogenomic tests that inform cancer treatment. We analyzed coverage policies from eight Medicare contractors and 10 private payers for 23 biomarkers (e.g., HER2 and EGFR ) and multi-gene tests. We extracted policy coverage and criteria, prior authorization requirements, and an evidence basis for coverage. We reviewed professional society guidelines and their recommendations for use of pharmacogenomic tests...
May 16, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29735935/correction-antoniou-m-et-al-fixed-and-adaptive-parallel-subgroup-specific-design-for-survival-outcomes-power-and-sample-size-j-pers-med-2017-7-19
#11
Miranta Antoniou, Andrea L Jorgensen, Ruwanthi Kolamunnage-Dona
No abstract text is available yet for this article.
May 7, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29735910/correction-antoniou-m-et-al-biomarker-guided-non-adaptive-trial-designs-in-phase-ii-and-phase-iii-a-methodological-review-j-pers-med-2017-7-1
#12
Miranta Antoniou, Ruwanthi Kolamunnage-Dona, Andrea L Jorgensen
No abstract text is available yet for this article.
May 7, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29710874/applicability-of-precision-medicine-approaches-to-managing-hypertension-in-rural-populations
#13
Jacqueline R Halladay, Kaitlin C Lenhart, Kimberly Robasky, Wendell Jones, Wayne F Homan, Doyle M Cummings, Crystal W Cené, Alan L Hinderliter, Cassandra L Miller, Katrina E Donahue, Beverly A Garcia, Thomas C Keyserling, Alice S Ammerman, Cam Patterson, Darren A DeWalt, Larry F Johnston, Monte S Willis, Jonathan C Schisler
As part of the Heart Healthy Lenoir Project, we developed a practice level intervention to improve blood pressure control. The goal of this study was: (i) to determine if single nucleotide polymorphisms (SNPs) that associate with blood pressure variation, identified in large studies, are applicable to blood pressure control in subjects from a rural population; (ii) to measure the association of these SNPs with subjects' responsiveness to the hypertension intervention; and (iii) to identify other SNPs that may help understand patient-specific responses to an intervention...
April 30, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29673183/ten-years-experience-with-the-cyp2d6-activity-score-a-perspective-on-future-investigations-to-improve-clinical-predictions-for-precision-therapeutics
#14
REVIEW
Andrea Gaedigk, Jean C Dinh, Hyunyoung Jeong, Bhagwat Prasad, J Steven Leeder
The seminal paper on the CYP2D6 Activity Score (AS) was first published ten years ago and, since its introduction in 2008, it has been widely accepted in the field of pharmacogenetics. This scoring system facilitates the translation of highly complex CYP2D6 diplotype data into a patient&rsquo;s phenotype to guide drug therapy and is at the core of all CYP2D6 gene/drug pair guidelines issued by the Clinical Pharmacogenetics Implementation Consortium (CPIC). The AS, however, only explains a portion of the variability observed among individuals and ethnicities...
April 17, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29659532/genetic-heterogeneity-of-slc22-family-of-transporters-in-drug-disposition
#15
REVIEW
Elisa Lozano, Oscar Briz, Rocio I R Macias, Maria A Serrano, Jose J G Marin, Elisa Herraez
An important aspect of modern medicine is its orientation to achieve more personalized pharmacological treatments. In this context, transporters involved in drug disposition have gained well-justified attention. Owing to its broad spectrum of substrate specificity, including endogenous compounds and xenobiotics, and its strategical expression in organs accounting for drug disposition, such as intestine, liver and kidney, the SLC22 family of transporters plays an important role in physiology, pharmacology and toxicology...
April 16, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29642553/genomic-profiling-on-an-unselected-solid-tumor-population-reveals-a-highly-mutated-wnt-%C3%AE-catenin-pathway-associated-with-oncogenic-egfr-mutations
#16
Jingrui Jiang, Alexei Protopopov, Ruobai Sun, Stephen Lyle, Meaghan Russell
Oncogenic epidermal growth factor receptors (EGFRs) can recruit key effectors in diverse cellular processes to propagate oncogenic signals. Targeted and combinational therapeutic strategies have been successfully applied for treating EGFR-driven cancers. However, a main challenge in EGFR therapies is drug resistance due to mutations, oncogenic shift, alternative signaling, and other potential mechanisms. To further understand the genetic alterations associated with oncogenic EGFRs and to provide further insight into optimal and personalized therapeutic strategies, we applied a proprietary comprehensive next-generation sequencing (NGS)-based assay of 435 genes to systematically study the genomic profiles of 1565 unselected solid cancer patient samples...
April 9, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29534555/improved-labeling-of-pancreatic-islets-using-cationic-magnetoliposomes
#17
Rita Sofia Garcia Ribeiro, Ashwini Ketkar-Atre, Ting Yin, Karim Louchami, Tom Struys, Ivo Lambrichts, Abdullah Sener, Willy Jean Malaisse, Marcel De Cuyper, Uwe Himmelreich
Pancreatic islets (PIs) transplantation is an alternative approach for the treatment of severe forms of type 1 diabetes (T1D). To monitor the success of transplantation, it is desirable to follow the location of engrafted PIs non-invasively. In vivo magnetic resonance imaging (MRI) of transplanted PIs is a feasible cell tracking method; however, this requires labeling with a suitable contrast agent prior to transplantation. We have tested the feasibility of cationic magnetoliposomes (MLs), compared to commercial contrast agents (Endorem and Resovist), by labeling insulinoma cells and freshly isolated rat PIs...
March 12, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29495422/a-genome-wide-association-study-of-idiopathic-dilated-cardiomyopathy-in-african-americans
#18
Huichun Xu, Gerald W Dorn, Amol Shetty, Ankita Parihar, Tushar Dave, Shawn W Robinson, Stephen S Gottlieb, Mark P Donahue, Gordon F Tomaselli, William E Kraus, Braxton D Mitchell, Stephen B Liggett
Idiopathic dilated cardiomyopathy (IDC) is the most common form of non-ischemic chronic heart failure. Despite the higher prevalence of IDC in African Americans, the genetics of IDC have been relatively understudied in this ethnic group. We performed a genome-wide association study to identify susceptibility genes for IDC in African Americans recruited from five sites in the U.S. (662 unrelated cases and 1167 controls). The heritability of IDC was calculated to be 33% (95% confidence interval: 19-47%; p = 6...
February 26, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29462916/gene-environment-interactions-and-predictors-of-colorectal-cancer-in-family-based-multi-ethnic-groups
#19
S Pamela K Shiao, James Grayson, Chong Ho Yu, Brandi Wasek, Teodoro Bottiglieri
For the personalization of polygenic/omics-based health care, the purpose of this study was to examine the gene-environment interactions and predictors of colorectal cancer (CRC) by including five key genes in the one-carbon metabolism pathways. In this proof-of-concept study, we included a total of 54 families and 108 participants, 54 CRC cases and 54 matched family friends representing four major racial ethnic groups in southern California (White, Asian, Hispanics, and Black). We used three phases of data analytics, including exploratory, family-based analyses adjusting for the dependence within the family for sharing genetic heritage, the ensemble method, and generalized regression models for predictive modeling with a machine learning validation procedure to validate the results for enhanced prediction and reproducibility...
February 16, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29389890/p450-pharmacogenetics-in-indigenous-north-american-populations
#20
REVIEW
Lindsay M Henderson, Katrina G Claw, Erica L Woodahl, Renee F Robinson, Bert B Boyer, Wylie Burke, Kenneth E Thummel
Indigenous North American populations, including American Indian and Alaska Native peoples in the United States, the First Nations, Métis and Inuit peoples in Canada and Amerindians in Mexico, are historically under-represented in biomedical research, including genomic research on drug disposition and response. Without adequate representation in pharmacogenetic studies establishing genotype-phenotype relationships, Indigenous populations may not benefit fully from new innovations in precision medicine testing to tailor and improve the safety and efficacy of drug treatment, resulting in health care disparities...
February 1, 2018: Journal of Personalized Medicine
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