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Journal of Personalized Medicine

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https://read.qxmd.com/read/31394823/pharmacogenomic-testing-clinical-evidence-and-implementation-challenges
#1
REVIEW
Catriona Hippman, Corey Nislow
Pharmacogenomics can enhance patient care by enabling treatments tailored to genetic make-up and lowering risk of serious adverse events. As of June 2019, there are 132 pharmacogenomic dosing guidelines for 99 drugs and pharmacogenomic information is included in 309 medication labels. Recently, the technology for identifying individual-specific genetic variants (genotyping) has become more accessible. Next generation sequencing (NGS) is a cost-effective option for genotyping patients at many pharmacogenomic loci simultaneously, and guidelines for implementation of these data are available from organizations such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG)...
August 7, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31374867/omics-meeting-onics-towards-the-next-generation-of-spectroscopic-based-technologies-in-personalized-medicine
#2
EDITORIAL
Weng Kung Peng, Daniele Paesani
This article aims to discuss the recent development of integrated point-of-care spectroscopic-based technologies that are paving the way for the next generation of diagnostic monitoring technologies in personalized medicine. Focusing on the nuclear magnetic resonance (NMR) technologies as the leading example, we discuss the emergence of -onics technologies (e.g., photonics and electronics) and how their coexistence with -omics technologies (e.g., genomics, proteomics, and metabolomics) can potentially change the future technological landscape of personalized medicine...
August 1, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31336617/evaluating-the-potential-of-younger-cases-and-older-controls-cohorts-to-improve-discovery-power-in-genome-wide-association-studies-of-late-onset-diseases
#3
Roman Teo Oliynyk
For more than a decade, genome-wide association studies have been making steady progress in discovering the causal gene variants that contribute to late-onset human diseases. Polygenic late-onset diseases in an aging population display a risk allele frequency decrease at older ages, caused by individuals with higher polygenic risk scores becoming ill proportionately earlier and bringing about a change in the distribution of risk alleles between new cases and the as-yet-unaffected population. This phenomenon is most prominent for diseases characterized by high cumulative incidence and high heritability, examples of which include Alzheimer's disease, coronary artery disease, cerebral stroke, and type 2 diabetes, while for late-onset diseases with relatively lower prevalence and heritability, exemplified by cancers, the effect is significantly lower...
July 22, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31323810/clinical-applications-of-circulating-tumour-dna-in-pancreatic-adenocarcinoma
#4
REVIEW
Matthew Loft, Belinda Lee, Jeanne Tie, Peter Gibbs
Pancreatic adenocarcinoma remains one of the most aggressive cancers with an ongoing dismal survival rate despite some recent advances in treatment options. This is largely due to the typically late presentation and limited effective therapeutic options in advanced disease. There are numerous circulating biomarkers that have potential clinical application as tumour markers, including circulating tumour DNA (ctDNA), circulating tumour cells (CTCs), cell-free RNA (cfRNA), exosomes and circulating tumour proteins...
July 18, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31319527/determination-of-risk-factors-for-venous-thromboembolism-by-an-adapted-caprini-scoring-system-in-surgical-patients
#5
Bui My Hanh, Le Quang Cuong, Nguyen Truong Son, Duong Tuan Duc, Tran Tien Hung, Duong Duc Hung, Tran Binh Giang, Nguyen Hoang Hiep, Hoang Thi Hong Xuyen, Nguyen Thi Nga, Dinh-Toi Chu
Venous thromboembolism (VTE) is a frequent preventable complication among surgical patients. Precise risk assessment is a necessary step for providing appropriate thromboprophylaxis and reducing mortality as well as morbidity caused by VTE. We carried out this work to define the rate of VTE postoperatively, following a Caprini score, and to determine VTE risk factors through a modified Caprini risk scoring system. This multicenter, observational, cohort study involved 2,790,027 patients who underwent surgery in four Vietnamese hospitals from 01/2017 to 12/2018...
July 17, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31337080/blockchains-for-secure-digitized-medicine
#6
REVIEW
Khaled Shuaib, Heba Saleous, Karim Shuaib, Nazar Zaki
Blockchain as an emerging technology has been gaining in popularity, with more possible applications to utilize the technology in the near future. With the offer of a decentralized, distributed environment without the need for a third trusted party (TTP), blockchains are being used to solve issues in systems that are susceptible to cyberattacks. One possible field that could benefit from blockchains that researchers have been focusing on is healthcare. Current healthcare information systems face several challenges, such as fragmented patient data, centralized systems which are viewed as single points of attacks, and the lack of patient-oriented services...
July 13, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31284461/adaptive-iterative-long-term-personalized-therapy-management-in-a-case-of-stage-iv-refractory-nsclc
#7
Anantbhushan Ranade, Darshana Patil, Amit Bhatt, Rucha Dhasare, Vineet Datta, Rajan Datar, Dadasaheb Akolkar
In this paper we report long-term therapy management based on iterative de novo molecular and cellular analysis in a case of metastatic non-small cell lung cancer (NSCLC), with prior history of treated colorectal cancer. In the described case temporal tumor evolution, emergent therapy resistance and disease recurrences were addressed via the administration of personalized label- and organ-agnostic treatments based on de novo tumor profiling. This adaptive and iterative treatment strategy countered disease progression at each instance and led to the durable regression of primary as well as metastatic lesions...
July 5, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31266141/access-to-genetic-counselors-in-the-southern-united-states
#8
Catalina Villegas, Susanne B Haga
The expansion of genetic and genomic testing across medical specialties and the changing workforce demographics of certified genetic counselors (CGCs) have led to concerns of a workforce shortage. We assessed the number of genetic counselors working in the Southern United States-a rural and medically underserved region-using various online and professional resources. We identified 683 practicing genetic counselors across the Southern U.S. and 160 specializing in prenatal genetics. CGCs were concentrated in urban areas; counties with a CGC had a significantly higher proportion of minority residents and median household income than counties without a CGC...
July 1, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31266140/barriers-and-facilitators-to-genetic-testing-for-familial-hypercholesterolemia-in-the-united-states-a-review
#9
REVIEW
Rachele M Hendricks-Sturrup, Kathleen M Mazor, Amy C Sturm, Christine Y Lu
Familial Hypercholesterolemia (FH) is an underdiagnosed condition in the United States (US) and globally, affecting an estimated 1/250 individuals. It is a genetic risk factor for premature cardiovascular disease and is responsible for an estimated 600,000 to 1.2 million preventable vascular events. Studies show that FH genetic testing can identify a causal gene variant in 60 to 80% of clinically suspected FH cases. However, FH genetic testing is currently underutilized in clinical settings in the US despite clinical recommendations and evidence supporting its use...
July 1, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31181705/a-scientific-overview-of-smartphone-applications-and-electronic-devices-for-weight-management-in-adults
#10
Sophie Laura Holzmann, Christina Holzapfel
Worldwide, there are rising trends in overweight and obesity. Therefore, novel digital tools are discussed to improve health-related behaviors. The use of smartphone applications (apps) and wearables (e.g., activity trackers) for self-monitoring of diet and physical activity might have an impact on body weight. By now, the scientific evaluation of apps and wearables for weight management is limited. Although some intervention studies have already investigated the efficacy of aforementioned digital tools on weight management, there are no clear recommendations for its clinical and therapeutic use ...
June 7, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31174318/evaluation-of-the-association-of-omentin-1-rs2274907-a-t-and-rs2274908-g-a-gene-polymorphisms-with-coronary-artery-disease-in-indian-population-a-case-control-study
#11
Chandan K Jha, Rashid Mir, Imadeldin Elfaki, Jamsheed Javid, Abdullatif Taha Babakr, Shaheena Banu, S M S Chahal
Coronary artery disease (CAD) is a major cause of death all over the world. CAD is caused by atherosclerosis which is induced by the interaction of genetic factors and environmental factors. Traditional environmental risk factors include hyperlipidemia, diabetes mellitus, lack of exercise, obesity, poor diet and others. Genome-wide association studies have revealed the association of certain gene polymorphisms with susceptibility to CAD. Omentin 1 is an adipokine secreted by the visceral adipose tissues and has been reported to have anti-inflammatory, cardioprotective, and enhances insulin sensitivity...
June 6, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31137623/primary-care-physicians-knowledge-attitudes-and-experience-with-personal-genetic-testing
#12
Susanne B Haga, Esther Kim, Rachel A Myers, Geoffrey S Ginsburg
Primary care providers (PCPs) will play an important role in precision medicine. However, their lack of training and knowledge about genetics and genomics may limit their ability to advise patients or interpret or utilize test results. We evaluated PCPs' awareness of the role of genetics/genomics in health, knowledge about key concepts in genomic medicine, perception/attitudes towards direct-to-consumer (DTC) genetic testing, and their level of confidence/comfort in discussing testing with patients prior to and after undergoing DTC testing through the 23andMe Health + Ancestry Service...
May 24, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31117188/assessing-the-joint-value-of-genomic-based-diagnostic-tests-and-gene-therapies
#13
Sean P Gavan, Christine Y Lu, Katherine Payne
Gene therapy is an emerging type of treatment that may aim to provide a cure to individuals with a genetic mutation known to be causative of a specific disease. A diagnosis of the causative mutation must precede treatment with a in vivo gene therapy. Both achieving a genomic-based diagnosis and treatment with a gene therapy may result in substantial expenditures for health care systems. Uncertainties around the health care costs, risks, and benefits derived from diagnosis and treatment with a subsequent gene therapy suggests a need for developing an evidence base, underpinned by opportunity cost, to inform if, and how, these health technologies should be introduced into health care systems funded by finite budgets...
May 21, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31137523/a-theoretical-framework-and-conceptual-design-for-engaging-children-in-therapy-at-home-the-design-of-a-wearable-breathing-trainer
#14
Lara Siering, Geke D S Ludden, Angelika Mader, Hellen van Rees
Wearable technologies are being implemented in the health and medical context with increasing frequency. Such technologies offer valuable opportunities to stimulate self-management in these domains. In this context, engagement plays a crucial role. An engaged patient is a patient who is emotionally involved and committed to the therapy or care process. Particularly for children who have to follow some sort of therapy, engagement is important to ensure a successful outcome of the therapy. To design for engagement, a framework based on theories of motivation in child therapy was developed...
May 20, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31083288/exploring-predictors-of-genetic-counseling-and-testing-for-hereditary-breast-and-ovarian-cancer-findings-from-the-2015-u-s-national-health-interview-survey
#15
Caitlin G Allen, Megan Roberts, Yue Guan
Despite efforts to increase the availability of clinical genetic testing and counseling for Hereditary Breast and Ovarian (HBOC)-related cancers, these services remain underutilized in clinical settings. There have been few efforts to understand the public's use of cancer genetic services, particularly for HBOC-related cancers. This analysis is based on data from the 2015 National Health Interview Survey (NHIS), a U.S.-based nationwide probability sample, to better understand the public's use of HBOC-related clinical cancer genetic services...
May 10, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31075859/direct-to-consumer-genetic-testing-data-privacy-key-concerns-and-recommendations-based-on-consumer-perspectives
#16
Rachele M Hendricks-Sturrup, Christine Y Lu
Direct-to-consumer genetic testing (DTC-GT) companies are engaging health consumers in unprecedented ways and leveraging the genetic information they collect to further engage health companies. This has produced controversy about DTC-GT consumer expectations, standards, and perceptions of privacy. In this commentary, we highlight recent events involving DTC-GT companies and controversy about privacy that followed those events and discuss recent studies that have explored DTC-GT consumer concerns about privacy...
May 9, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31067780/clinical-and-prognostic-significance-of-cell-sensitivity-to-chemotherapy-detected-in-vitro-on-treatment-response-and-survival-of-leukemia-patients
#17
Maria Kolesnikova, Aleksandra Sen'kova, Sofia Tairova, Viktor Ovchinnikov, Tatiana Pospelova, Marina Zenkova
Multidrug resistance (MDR) is a major challenge in leukemia treatment. The objective of this study was to identity predictors of MDR to allow for rapid and economical assessment of the efficacy of planned antitumor therapy for leukemia patients. The study included 113 patients with acute and chronic leukemias. Prior to antitumor therapy, we measured the sensitivity of tumor cells of patients to the panel of chemotherapeutic drugs, together with MDR1 mRNA and P-glycoprotein (P-gp) expression as one of the mechanisms of MDR, and compared these data with the response to therapy...
May 7, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31060343/feasibility-of-a-comprehensive-home-monitoring-program-for-sarcoidosis
#18
Catharina C Moor, Yasmin Gür-Demirel, Marlies S Wijsenbeek
Sarcoidosis is a chronic, heterogeneous disease which most commonly affects the lungs. Currently, evidence-based and individually tailored treatment options in sarcoidosis are lacking. We aimed to evaluate patient experiences with a home monitoring program for sarcoidosis and assess whether home monitoring is a feasible tool to enhance personalized treatment. Outpatients with pulmonary sarcoidosis tested the home monitoring program "Sarconline" for one month. This is a secured personal platform which consists of online patient-reported outcomes, real-time wireless home spirometry, an activity tracker, an information library, and an eContact option...
May 5, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31052247/pharmacogenetic-tests-in-reducing-accesses-to-emergency-services-and-days-of-hospitalization-in-bipolar-disorder-a-2-year-mirror-analysis
#19
Camilla Callegari, Celeste Isella, Ivano Caselli, Nicola Poloni, Marta Ielmini
Despite the enormous costs associated to mood disorders', few studies evaluate potential cost saving from the use of pharmacogenetic tests (PGT). This study compares 12 months before the execution of the PGT versus 12 months after, in terms of number and days of hospitalization and accesses to emergency services, in a sample of 30 patients affected by bipolar disorder. Secondarily, the study gives an economic value to the data based on the diagnosis-related group (DRG). Patients included in the study were required to be aged ≥18 years, sign an informed consent, have a score of Clinical Global Impression item Severity (CGIs) ≥3, and have a discordant therapy compared to the PGT in the 12 months preceding it and a therapy consistent with it for the following 12 months...
April 30, 2019: Journal of Personalized Medicine
https://read.qxmd.com/read/31032818/the-transcriptomic-toolbox-resources-for-interpreting-large-gene-expression-data-within-a-precision-medicine-context-for-metabolic-disease-atherosclerosis
#20
Caralina Marín de Evsikova, Isaac D Raplee, John Lockhart, Gilberto Jaimes, Alexei V Evsikov
As one of the most widespread metabolic diseases, atherosclerosis affects nearly everyone as they age; arteries gradually narrow from plaque accumulation over time reducing oxygenated blood flow to central and periphery causing heart disease, stroke, kidney problems, and even pulmonary disease. Personalized medicine promises to bring treatments based on individual genome sequencing that precisely target the molecular pathways underlying atherosclerosis and its symptoms, but to date only a few genotypes have been identified...
April 29, 2019: Journal of Personalized Medicine
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