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Precision medicine population

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https://www.readbyqxmd.com/read/28448782/amcp-partnership-forum-driving-value-and-outcomes-in-oncology
#1
(no author information available yet)
Innovation in cancer treatment has provided a wealth of recently available therapeutic agents and a healthy drug pipeline that promises to change the way we approach this disease and the lives of those affected in the years to come. However, the majority of these new agents, many of which are targeted to specific genomic features of various tumors, may challenge the health care system's ability to afford cancer care. This innovation drives the need to focus on the value of the treatments provided to patients with cancer and on methods to optimize the efficiency of the dollars we spend, in addition to the clinical value itself...
May 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28441061/precisely-where-are-we-going-charting-the-new-terrain-of-precision-prevention
#2
Karen M Meagher, Michelle L McGowan, Richard A Settersten, Jennifer R Fishman, Eric T Juengst
In addition to genetic data, precision medicine research gathers information about three factors that modulate gene expression: lifestyles, environments, and communities. The relevant research tools-epidemiology, environmental assessment, and socioeconomic analysis-are those of public health sciences rather than molecular biology. Because these methods are designed to support inferences and interventions addressing population health, the aspirations of this research are expanding from individualized treatment toward precision prevention in public health...
April 24, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28439188/next-generation-sequencing-reveals-high-prevalence-of-brca1-and-brca2-variants-of-unknown-significance-in-early-onset-breast-cancer-in-african-american-women
#3
Luisel Ricks-Santi, J Tyson McDonald, Bert Gold, Michael Dean, Nicole Thompson, Muneer Abbas, Bradford Wilson, Yasmine Kanaan, Tammey J Naab, Georgia Dunston
BACKGROUND: Variants of unknown significance (VUSs) have been identified in BRCA1 and BRCA2 and account for the majority of all identified sequence alterations. Notably, VUSs occur disproportionately in people of African descent hampering breast cancer (BCa) management and prevention efforts in the population. Our study sought to identify and characterize mutations associated with increased risk of BCa at young age. METHODS: In our study, the spectrum of mutations in BRCA1 and BRCA2 was enumerated in a cohort of 31 African American women of early age at onset breast cancer, with a family history of breast or cancer in general and/or with triple negative breast cancer...
2017: Ethnicity & Disease
https://www.readbyqxmd.com/read/28433665/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#4
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, J Timothy Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart Lung Blood Institute (NHLBI) convened a Working Group of experts on June 2-3, 2016 in Bethesda Maryland to develop recommendations for the NHLBI aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MSC devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
April 19, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28432351/early-measurement-of-il-10-predicts-the-outcomes-of-patients-with-acute-respiratory-distress-syndrome-receiving-extracorporeal-membrane-oxygenation
#5
Chia-Hsiung Liu, Shuenn-Wen Kuo, Wen-Je Ko, Pi-Ru Tsai, Shu-Wei Wu, Chien-Heng Lai, Chih-Hsien Wang, Yih-Sharng Chen, Pei-Lung Chen, Tze-Tze Liu, Shu-Chien Huang, Tzuu-Shuh Jou
Patients diagnosed with acute respiratory distress syndrome are generally severely distressed and associated with high morbidity and mortality despite aggressive treatments such as extracorporeal membrane oxygenation (ECMO) support. To identify potential biomarker of predicting value for appropriate use of this intensive care resource, plasma interleukin-10 along with relevant inflammatory cytokines and immune cell populations were examined during the early and subsequent disease courses of 51 critically ill patients who received ECMO support...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28430547/enhancing-insights-into-pulmonary-vascular-disease-pvd-through-a-precision-medicine-approach-a-joint-nhlbi-cmref-workshop-report
#6
John H Newman, Stuart Rich, Steven H Abman, John H Alexander, John Barnard, Gerald J Beck, Raymond L Benza, Todd M Bull, Stephen Y Chan, Hyung J Chun, Declan Doogan, Jocelyn Dupuis, Serpil C Erzurum, Robert P Frantz, Mark Geraci, Hunter Gillies, Mark Gladwin, Michael P Gray, Anna R Hemnes, Roy S Herbst, Adrian F Hernandez, Nicholas S Hill, Evelyn M Horn, Kendall Hunter, Zhi-Cheng Jing, Roger Johns, Sanjay Kaul, Steven M Kawut, Tim Lahm, Jane A Leopold, Greg D Lewis, Stephen C Mathai, Vallerie V McLaughlin, Evangelos D Michelakis, Steven D Nathan, William Nichols, Grier Page, Marlene Rabinovitch, Jonathan Rich, Franz Rischard, Sharon Rounds, Sanjiv J Shah, Victor F Tapson, Naomi Lowy, Norman Stockbridge, Gail Weinmann, Lei Xiao
The Division of Lung Diseases of the National Heart, Lung and Blood Institute, (NHLBI) and the Cardiovascular Medical Education and Research Fund (CMREF), held a workshop to discuss to leverage of the anticipated scientific output from the recently launched "Redefining Pulmonary Hypertension (PH) through Pulmonary Vascular Disease Phenomics" (PVDOMICS) program. PVDOMICS is a protocol driven network to analyze PH patient populations to define novel pulmonary vascular disease (PVD) phenotypes. Basic, translational and clinical investigators, patient advocacy organizations, regulatory agencies, and pharmaceutical industry experts discussed the application of precision medicine to PVD clinical trials...
April 21, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28415599/brca1-missense-polymorphisms-are-associated-with-poor-prognosis-of-pancreatic-cancer-patients-in-a-chinese-population
#7
Ying Zhu, Kan Zhai, Juntao Ke, Jiaoyuan Li, Yajie Gong, Yang Yang, Jianbo Tian, Yi Zhang, Danyi Zou, Xiating Peng, Jing Gong, Rong Zhong, Kun Huang, Jiang Chang, Xiaoping Miao
Pancreatic cancer is a highly lethal disease with limited prognostic marker. BRAC1 and BRCA2 are two classic tumor suppressor genes which play an important role in DNA repair. Somatic mutations and germline genetic variants on BRCA1/2 have been found associated with the tumorigenesis of pancreatic cancer. However, the correlations between BRCA1/2 polymorphism and pancreatic cancer prognosis remained unknown. In this study, we genotyped three tag missense variants on BRCA1/2 in 603 sporadic pancreatic cancer patients in a Chinese population...
March 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28407095/genetic-and-environmental-risk-factors-for-rheumatoid-arthritis-in-a-uk-african-ancestry-population-the-genra-case-control-study
#8
Matthew Traylor, Charles Curtis, Hamel Patel, Gerome Breen, Sang Hyuck Lee, Xiaohui Xu, Stephen Newhouse, Richard Dobson, Sophia Steer, Andrew P Cope, Hugh S Markus, Cathryn M Lewis, Ian C Scott
Objectives.: To evaluate whether genetic and environmental factors associated with RA in European and Asian ancestry populations are also associated with RA in African ancestry individuals. Methods.: A case-control study was undertaken in 197 RA cases and 868 controls of African ancestry (Black African, Black Caribbean or Black British ethnicity) from South London. Smoking and alcohol consumption data at RA diagnosis was captured. Genotyping was undertaken (Multi-Ethnic Genotyping Array) and human leukocyte antigen (HLA) alleles imputed...
April 12, 2017: Rheumatology
https://www.readbyqxmd.com/read/28401511/deep-phenotyping-of-systemic-arterial-hemodynamics-in-hfpef-part-2-clinical-and-therapeutic-considerations
#9
Julio A Chirinos
Multiple phase III trials over the last few decades have failed to demonstrate a clear benefit of various pharmacologic interventions in heart failure with a preserved left ventricular (LV) ejection fraction (HFpEF). Therefore, a better understanding of its pathophysiology is important. An accompanying review describes key technical and physiologic aspects regarding the deep phenotyping of arterial hemodynamics in HFpEF. This review deals with the potential of this approach to enhance our clinical, translational, and therapeutic approach to HFpEF...
April 11, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28388695/regulation-of-drug-metabolism-and-toxicity-by-multiple-factors-of-genetics-epigenetics-lncrnas-gut-microbiota-and-diseases-a-meeting-report-of-the-21-st-international-symposium-on-microsomes-and-drug-oxidations-mdo
#10
Ai-Ming Yu, Magnus Ingelman-Sundberg, Nathan J Cherrington, Lauren M Aleksunes, Ulrich M Zanger, Wen Xie, Hyunyoung Jeong, Edward M Morgan, Peter J Turnbaugh, Curtis D Klaassen, Aadra P Bhatt, Matthew R Redinbo, Pengying Hao, David J Waxman, Li Wang, Xiao-Bo Zhong
Variations in drug metabolism may alter drug efficacy and cause toxicity; better understanding of the mechanisms and risks shall help to practice precision medicine. At the 21(st) International Symposium on Microsomes and Drug Oxidations held in Davis, California, USA, in October 2-6, 2016, a number of speakers reported some new findings and ongoing studies on the regulation mechanisms behind variable drug metabolism and toxicity, and discussed potential implications to personalized medications. A considerably insightful overview was provided on genetic and epigenetic regulation of gene expression involved in drug absorption, distribution, metabolism, and excretion (ADME) and drug response...
March 2017: Acta Pharmaceutica Sinica. B
https://www.readbyqxmd.com/read/28382802/major-clinical-research-advances-in-gynecologic-cancer-in-2016-10-year-special-edition
#11
REVIEW
Dong Hoon Suh, Miseon Kim, Kidong Kim, Hak Jae Kim, Kyung Hun Lee, Jae Weon Kim
In 2016, 13 topics were selected as major research advances in gynecologic oncology. For ovarian cancer, study results supporting previous ones regarding surgical preventive strategies were reported. There were several targeted agents that showed comparable responses in phase III trials, including niraparib, cediranib, and nintedanib. On the contrary to our expectations, dose-dense weekly chemotherapy regimen failed to prove superior survival outcomes compared with conventional triweekly regimen. Single-agent non-platinum treatment to prolong platinum-free-interval in patients with recurrent, partially platinum-sensitive ovarian cancer did not improve and even worsened overall survival (OS)...
May 2017: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/28377724/toward-precision-healthcare-context-and-mathematical-challenges
#12
Caroline Colijn, Nick Jones, Iain G Johnston, Sophia Yaliraki, Mauricio Barahona
Precision medicine refers to the idea of delivering the right treatment to the right patient at the right time, usually with a focus on a data-centered approach to this task. In this perspective piece, we use the term "precision healthcare" to describe the development of precision approaches that bridge from the individual to the population, taking advantage of individual-level data, but also taking the social context into account. These problems give rise to a broad spectrum of technical, scientific, policy, ethical and social challenges, and new mathematical techniques will be required to meet them...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28368668/immunotherapy-for-head-and-neck-cancer-the-future-of-treatment
#13
Xiujie Xie, Wendi O'Neill, Quintin Pan
Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide with >500,000 cases diagnosed each year. HNSCC patients often present to the clinic with advanced disease and are managed with a multi-disciplinary approach consisting of surgery, chemotherapy, and/or radiation. Morbidity and quality of life issues are major challenges in this patient population due to the debilitating effects of standard of care treatment paradigms. There is a critical need for new therapeutic approaches to manage HNSCC with better anti-tumor activities and toxicity profiles...
April 11, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28365879/geoepidemiology-and-changing-mortality-in-primary-biliary-cholangitis
#14
REVIEW
Annarosa Floreani, Atsushi Tanaka, Christopher Bowlus, Merrill Eric Gershwin
Primary biliary cholangitis (PBC), formerly called primary biliary cirrhosis, is a chronic cholestatic disease characterized by an autoimmune-mediated destruction of small and medium-sized intrahepatic bile ducts. Originally PBC was considered to be rare and almost invariably fatal, mainly because the diagnosis was made in patients presenting with advanced symptomatic disease (jaundice and decompensated cirrhosis). However, the development of a reproducible indirect immunofluorescence assay for antimitochondrial antibody made it possible to diagnose the disease at an earlier stage, and introduction of ursodeoxycholic acid therapy as the first-line therapy for PBC drastically changed PBC-related mortality...
April 1, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/28364003/multi-drug-analyses-in-patients-distinguish-efficacious-cancer-agents-based-on-both-tumor-cell-killing-and-immunomodulation
#15
Jason Frazier, Jessica A Bertout, William S Kerwin, Alicia Moreno-Gonzalez, Joey R Casalini, Marc O Grenley, Emily Beirne, Kori L Watts, Andy Keener, Derek J Thirstrup, Ilona Tretyak, Sally Ditzler, Chelsea D Tripp, Kevin Choy, Sarah Gillings, Megan N Breit, Karri A Meleo, Vanessa Rizzo, Chamisa L Herrera, James A Perry, Ravi K Amaravadi, James M Olson, Richard Klinghoffer
The vision of a precision medicine-guided approach to novel cancer drug development is challenged by high intra-tumor heterogeneity and interpatient diversity. This complexity is rarely modeled accurately during preclinical drug development, hampering predictions of clinical drug efficacy. To address this issue, we developed CIVO (Comparative In Vivo Oncology) arrayed microinjection technology to test tumor responsiveness to simultaneous microdoses of multiple drugs directly in a patient's tumor. Here, in a study of 18 canine patients with soft tissue sarcoma (STS), CIVO captured complex, patient-specific tumor responses encompassing both cancer cells and multiple immune infiltrates following localized exposure to different chemotherapy agents...
March 31, 2017: Cancer Research
https://www.readbyqxmd.com/read/28357175/innovative-measures-to-combat-rare-diseases-in-china-the-national-rare-diseases-registry-system-larger-scale-clinical-cohort-studies-and-studies-in-combination-with-precision-medicine-research
#16
REVIEW
Peipei Song, Jiangjiang He, Fen Li, Chunlin Jin
China is facing the great challenge of treating the world's largest rare disease population, an estimated 16 million patients with rare diseases. One effort offering promise has been a pilot national project that was launched in 2013 and that focused on 20 representative rare diseases. Another government-supported special research program on rare diseases - the "Rare Diseases Clinical Cohort Study" - was launched in December 2016. According to the plan for this research project, the unified National Rare Diseases Registry System of China will be established as of 2020, and a large-scale cohort study will be conducted from 2016 to 2020...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28355428/health-disparities-and-triple-negative-breast-cancer-in-african-american-women-a-review
#17
Lisa A Newman, Linda M Kaljee
Importance: Variation in cancer incidence and outcome has well-documented correlations with racial/ethnic identity. In the United States, the possible genetic and ancestral hereditary explanations for these associations are confounded by socioeconomic, cultural, and lifestyle patterns. Differences in the breast cancer burden of African American compared with European/white American women represent one of the most notable examples of disparities in oncology related to racial/ethnic identity...
March 29, 2017: JAMA Surgery
https://www.readbyqxmd.com/read/28344632/dynamic-and-temporal-assessment-of-human-dried-blood-spot-ms-ms-all-shotgun-lipidomics-analysis
#18
Fei Gao, Justice McDaniel, Emily Y Chen, Hannah E Rockwell, Jeremy Drolet, Vivek K Vishnudas, Vladimir Tolstikov, Rangaprasad Sarangarajan, Niven R Narain, Michael A Kiebish
BACKGROUND: Real-time and dynamic assessment of an individual's lipid homeostatic state in blood is complicated due to the need to collect samples in a clinical environment. In the context of precision medicine and population health, tools that facilitate sample collection and empower the individual to participate in the process are necessary to complement advanced bioanalytical analysis. The dried blood spot (DBS) methodology via finger prick or heel prick is a minimally invasive sample collection method that allows the relative ease and low cost of sample collection as well as transport...
2017: Nutrition & Metabolism
https://www.readbyqxmd.com/read/28343740/pediatric-oncology-enters-an-era-of-precision-medicine
#19
Nita L Seibel, Katherine Janeway, Carl E Allen, Susan N Chi, Yoon-Jae Cho, Julia L Glade Bender, AeRang Kim, Theodore W Laetsch, Meredith S Irwin, Naoko Takebe, James V Tricoli, Donald Williams Parsons
With the use of high-throughput molecular profiling technologies, precision medicine trials are ongoing for adults with cancer. Similarly, there is an interest in how these techniques can be applied to tumors in children and adolescents to expand our understanding of the biology of pediatric cancers and evaluate the clinical implications of genomic testing for these patients. This article reviews the early studies in pediatric oncology showing the feasibility of this approach, describe the future plans to evaluate the clinical implications in a multicenter clinical trial and identify the challenges of applying genomics in this patient population...
February 1, 2017: Current Problems in Cancer
https://www.readbyqxmd.com/read/28334334/p53-and-its-mutants-on-the-slippery-road-from-stemness-to-carcinogenesis
#20
REVIEW
Alina Molchadsky, Varda Rotter
Normal development, tissue homeostasis and regeneration following injury rely on the proper functions of wide repertoire of stem cells (SCs) persisting during embryonic period and throughout the adult life. Therefore, SCs employ robust mechanisms to preserve their genomic integrity and avoid heritage of mutations to their daughter cells. Importantly, propagation of SCs with faulty DNA as well as dedifferentiation of genomically altered somatic cells may result in derivation of cancer SCs, which are considered to be the driving force of the tumorigenic process...
April 1, 2017: Carcinogenesis
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