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Journal of Personalized Medicine

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https://www.readbyqxmd.com/read/29035327/immortalized-muscle-cell-model-to-test-the-exon-skipping-efficacy-for-duchenne-muscular-dystrophy
#1
REVIEW
Quynh Nguyen, Toshifumi Yokota
Duchenne muscular dystrophy (DMD) is a lethal genetic disorder that most commonly results from mutations disrupting the reading frame of the dystrophin (DMD) gene. Among the therapeutic approaches employed, exon skipping using antisense oligonucleotides (AOs) is one of the most promising strategies. This strategy aims to restore the reading frame, thus producing a truncated, yet functioning dystrophin protein. In 2016, the Food and Drug Administration (FDA) conditionally approved the first AO-based drug, eteplirsen (Exondys 51), developed for DMD exon 51 skipping...
October 16, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29035320/personomics-the-missing-link-in-the-evolution-from-precision-medicine-to-personalized-medicine
#2
Roy C Ziegelstein
Clinical practice guidelines have been developed for many common conditions based on data from randomized controlled trials. When medicine is informed solely by clinical practice guidelines, however, the patient is not treated as an individual, but rather a member of a group. Precision medicine, as defined herein, characterizes unique biological characteristics of the individual or of specimens obtained from an individual to tailor diagnostics and therapeutics to a specific patient. These unique biological characteristics are defined by the tools of precision medicine: genomics, proteomics, metabolomics, epigenomics, pharmacogenomics, and other "-omics...
October 16, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29023366/personalized-nanomedicine-a-revolution-at-the-nanoscale
#3
REVIEW
Cristina Fornaguera, Maria José García-Celma
Nanomedicine is an interdisciplinary research field that results from the application of nanotechnology to medicine and has the potential to significantly improve some current treatments. Specifically, in the field of personalized medicine, it is expected to have a great impact in the near future due to its multiple advantages, namely its versatility to adapt a drug to a cohort of patients. In the present review, the properties and requirements of pharmaceutical dosage forms at the nanoscale, so-called nanomedicines, are been highlighted...
October 12, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/28869571/value-based-pricing-and-reimbursement-in-personalised-healthcare-introduction-to-the-basic-health-economics
#4
REVIEW
Louis P Garrison, Adrian Towse
'Value-based' outcomes, pricing, and reimbursement are widely discussed as health sector reforms these days. In this paper, we discuss their meaning and relationship in the context of personalized healthcare, defined as receipt of care conditional on the results of a biomarker-based diagnostic test. We address the question: "What kinds of pricing and reimbursement models should be applied in personalized healthcare?" The simple answer is that competing innovators and technology adopters should have incentives that promote long-term dynamic efficiency...
September 4, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/28862657/personalized-computational-models-as-biomarkers
#5
Walter Kolch, Dirk Fey
Biomarkers are cornerstones of clinical medicine, and personalized medicine, in particular, is highly dependent on reliable and highly accurate biomarkers for individualized diagnosis and treatment choice. Modern omics technologies, such as genome sequencing, allow molecular profiling of individual patients with unprecedented resolution, but biomarkers based on these technologies often lack the dynamic element to follow the progression of a disease or response to therapy. Here, we discuss computational models as a new conceptual approach to biomarker discovery and design...
September 1, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/28867816/dairy-product-consumption-interacts-with-glucokinase-gck-gene-polymorphisms-associated-with-insulin-resistance
#6
Marine S Da Silva, Dominic Chartrand, Marie-Claude Vohl, Olivier Barbier, Iwona Rudkowska
Dairy product intake and a person's genetic background have been reported to be associated with the risk of type 2 diabetes (T2D). The objective of this study was to examine the interaction between dairy products and genes related to T2D on glucose-insulin homeostasis parameters. A validated food frequency questionnaire, fasting blood samples, and glucokinase (GCK) genotypes were analyzed in 210 healthy participants. An interaction between rs1799884 in GCK and dairy intake on the homeostasis model assessment of insulin resistance was identified...
August 30, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/28829408/empowering-mayo-clinic-individualized-medicine-with-genomic-data-warehousing
#7
REVIEW
Iain Horton, Yaxiong Lin, Gay Reed, Mathieu Wiepert, Steven Hart
Individualized medicine enables better diagnoses and treatment decisions for patients and promotes research in understanding the molecular underpinnings of disease. Linking individual patient's genomic and molecular information with their clinical phenotypes is crucial to these efforts. To address this need, the Center for Individualized Medicine at Mayo Clinic has implemented a genomic data warehouse and a workflow management system to bring data from institutional electronic health records and genomic sequencing data from both clinical and research bioinformatics sources into the warehouse...
August 22, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/28657610/the-clinical-and-economic-impact-of-inaccurate-egfr-mutation-tests-in-the-treatment-of-metastatic-non-small-cell-lung-cancer
#8
Mindy M Cheng, John F Palma, Sidney Scudder, Nick Poulios, Oliver Liesenfeld
Advances in personalized medicine are supported by companion diagnostic molecular tests. Testing accuracy is critical for selecting patients for optimal therapy and reducing treatment-related toxicity. We assessed the clinical and economic impact of inaccurate test results between laboratory developed tests (LDTs) and a US Food and Drug Administration (FDA)-approved test for detection of epidermal growth factor receptor (EGFR) mutations. Using a hypothetical US cohort of newly diagnosed metastatic non-small cell lung cancer (NSCLC) patients and EURTAC (erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive non-small-cell lung cancer) clinical trial data, we developed a decision analytic model to estimate the probability of misclassification with LDTs compared to a FDA-approved test...
June 28, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/28587070/development-and-initial-assessment-of-a-patient-education-video-about-pharmacogenetics
#9
Rachel Mills, Megan Ensinger, Nancy Callanan, Susanne B Haga
As few patient-friendly resources about pharmacogenetics are currently available, we aimed to create and assess a patient educational video on pharmacogenetic testing. A primary literature and resources review was conducted to inform the content and the format of the video. The educational video was then created using a commercially available animation program and pilot tested in focus groups of the general public and by an online survey of pharmacists. Emerging themes from the focus groups and survey indicate a desire for appropriate risk contextualization and specific examples when pharmacogenetic testing may be beneficial...
May 25, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/28538708/accuracy-in-wrist-worn-sensor-based-measurements-of-heart-rate-and-energy-expenditure-in-a-diverse-cohort
#10
Anna Shcherbina, C Mikael Mattsson, Daryl Waggott, Heidi Salisbury, Jeffrey W Christle, Trevor Hastie, Matthew T Wheeler, Euan A Ashley
The ability to measure physical activity through wrist-worn devices provides an opportunity for cardiovascular medicine. However, the accuracy of commercial devices is largely unknown. The aim of this work is to assess the accuracy of seven commercially available wrist-worn devices in estimating heart rate (HR) and energy expenditure (EE) and to propose a wearable sensor evaluation framework. We evaluated the Apple Watch, Basis Peak, Fitbit Surge, Microsoft Band, Mio Alpha 2, PulseOn, and Samsung Gear S2. Participants wore devices while being simultaneously assessed with continuous telemetry and indirect calorimetry while sitting, walking, running, and cycling...
May 24, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/28134833/methods-for-the-in-vitro-characterization-of-nanomedicines-biological-component-interaction
#11
REVIEW
Cristina Fornaguera, Conxita Solans
The design of colloidal nanosystems intended for biomedical applications, specifically in the field of personalized medicine, has increased notably in the last years. Consequently, a variety of characterization techniques devoted to studying nanomedicine interactions with proteins and cells have been developed, since a deep characterization of nanosystems is required before starting preclinical and clinical studies. In this context, this review aims to summarize the main techniques used to assess the interaction of nanomedicines with biological systems, highlighting their advantages and disadvantages...
January 27, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/28125057/biomarker-guided-non-adaptive-trial-designs-in-phase-ii-and-phase-iii-a-methodological-review
#12
REVIEW
Miranta Antoniou, Ruwanthi Kolamunnage-Dona, Andrea L Jorgensen
Biomarker-guided treatment is a rapidly developing area of medicine, where treatment choice is personalised according to one or more of an individual's biomarker measurements. A number of biomarker-guided trial designs have been proposed in the past decade, including both adaptive and non-adaptive trial designs which test the effectiveness of a biomarker-guided approach to treatment with the aim of improving patient health. A better understanding of them is needed as challenges occur both in terms of trial design and analysis...
January 25, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27827859/precision-health-economics-and-outcomes-research-to-support-precision-medicine-big-data-meets-patient-heterogeneity-on-the-road-to-value
#13
Yixi Chen, Gregory F Guzauskas, Chengming Gu, Bruce C M Wang, Wesley E Furnback, Guotong Xie, Peng Dong, Louis P Garrison
The "big data" era represents an exciting opportunity to utilize powerful new sources of information to reduce clinical and health economic uncertainty on an individual patient level. In turn, health economic outcomes research (HEOR) practices will need to evolve to accommodate individual patient-level HEOR analyses. We propose the concept of "precision HEOR", which utilizes a combination of costs and outcomes derived from big data to inform healthcare decision-making that is tailored to highly specific patient clusters or individuals...
November 2, 2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27801815/idicap-a-novel-tool-for-integrating-drug-intervention-based-on-cancer-panel
#14
Noelle Kosarek, Eric S Ho
Cancer is a heterogeneous disease afflicting millions of people of all ages and their families worldwide. Tremendous resources have been and continue to be devoted to the development of cancer treatments that target the unique mutation profiles of patients, namely targeted cancer therapy. However, the sheer volume of drugs coupled with cancer heterogeneity becomes a challenge for physicians to prescribe effective therapies targeting patients' unique genetic mutations. Developing a web service that allows clinicians as well as patients to identify effective drug therapies, both approved and experimental, would be helpful for both parties...
October 28, 2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27657137/implementing-personalized-medicine-in-the-academic-health-center
#15
EDITORIAL
Scott T Weiss
Recently we at Partners Health Care had a series of articles in the Journal of Personalized Medicine describing how we are going about implementing Personalized Medicine in an academic health care system [1-10].[...].
September 21, 2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27294961/implementation-of-electronic-consent-at-a-biobank-an-opportunity-for-precision-medicine-research
#16
Natalie T Boutin, Kathleen Mathieu, Alison G Hoffnagle, Nicole L Allen, Victor M Castro, Megan Morash, P Pearl O'Rourke, Elizabeth L Hohmann, Neil Herring, Lynn Bry, Susan A Slaugenhaupt, Elizabeth W Karlson, Scott T Weiss, Jordan W Smoller
The purpose of this study is to characterize the potential benefits and challenges of electronic informed consent (eIC) as a strategy for rapidly expanding the reach of large biobanks while reducing costs and potentially enhancing participant engagement. The Partners HealthCare Biobank (Partners Biobank) implemented eIC tools and processes to complement traditional recruitment strategies in June 2014. Since then, the Partners Biobank has rigorously collected and tracked a variety of metrics relating to this novel recruitment method...
June 9, 2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27144585/personalized-medicine-in-the-u-s-and-germany-awareness-acceptance-use-and-preconditions-for-the-wide-implementation-into-the-medical-standard
#17
Kateryna Kichko, Paul Marschall, Steffen Flessa
The aim of our research was to collect comprehensive data about the public and physician awareness, acceptance and use of Personalized Medicine (PM), as well as their opinions on PM reimbursement and genetic privacy protection in the U.S. and Germany. In order to give a better overview, we compared our survey results with the results from other studies and discussed Personalized Medicine preconditions for its wide implementation into the medical standard. For the data collection, using the same methodology, we performed several surveys in Pennsylvania (U...
May 2, 2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27136589/barriers-and-facilitators-to-adoption-of-genomic-services-for-colorectal-care-within-the-veterans-health-administration
#18
Nina R Sperber, Sara M Andrews, Corrine I Voils, Gregory L Green, Dawn Provenzale, Sara Knight
We examined facilitators and barriers to adoption of genomic services for colorectal care, one of the first genomic medicine applications, within the Veterans Health Administration to shed light on areas for practice change. We conducted semi-structured interviews with 58 clinicians to understand use of the following genomic services for colorectal care: family health history documentation, molecular and genetic testing, and genetic counseling. Data collection and analysis were informed by two conceptual frameworks, the Greenhalgh Diffusion of Innovation and Andersen Behavioral Model, to allow for concurrent examination of both access and innovation factors...
April 28, 2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27023617/personal-genome-sequencing-in-ostensibly-healthy-individuals-and-the-peopleseq-consortium
#19
REVIEW
Michael D Linderman, Daiva E Nielsen, Robert C Green
Thousands of ostensibly healthy individuals have had their exome or genome sequenced, but a much smaller number of these individuals have received any personal genomic results from that sequencing. We term those projects in which ostensibly healthy participants can receive sequencing-derived genetic findings and may also have access to their genomic data as participatory predispositional personal genome sequencing (PPGS). Here we are focused on genome sequencing applied in a pre-symptomatic context and so define PPGS to exclude diagnostic genome sequencing intended to identify the molecular cause of suspected or diagnosed genetic disease...
March 25, 2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26927187/infrastructure-for-personalized-medicine-at-partners-healthcare
#20
Scott T Weiss, Meini Sumbada Shin
Partners HealthCare Personalized Medicine (PPM) is a center within the Partners HealthCare system (founded by Massachusetts General Hospital and Brigham and Women's Hospital) whose mission is to utilize genetics and genomics to improve the care of patients in a cost effective manner. PPM consists of five interconnected components: (1) Laboratory for Molecular Medicine (LMM), a CLIA laboratory performing genetic testing for patients world-wide; (2) Translational Genomics Core (TGC), a core laboratory providing genomic platforms for Partners investigators; (3) Partners Biobank, a biobank of samples (DNA, plasma and serum) for 50,000 Consented Partners patients; (4) Biobank Portal, an IT infrastructure and viewer to bring together genotypes, samples, phenotypes (validated diagnoses, radiology, and clinical chemistry) from the electronic medical record to Partners investigators...
February 27, 2016: Journal of Personalized Medicine
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