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Public Health Genomics

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https://www.readbyqxmd.com/read/28521327/epigenomics-pharmacoepigenomics-and-personalized-medicine-in-cervical-cancer
#1
Shama Prasada Kabekkodu, Sanjiban Chakrabarty, Supriti Ghosh, Angela Brand, Kapaettu Satyamoorthy
Epigenomics encompasses the study of genome-wide changes in DNA methylation, histone modifications and noncoding RNAs leading to altered transcription, chromatin structure, and posttranscription RNA processing, respectively, resulting in an altered rate of gene expression. The role of epigenetic modifications facilitating human diseases is well established. Previous studies have identified histone and cytosine code during normal and pathological conditions with special emphasis on how these modifications regulate transcriptional events...
May 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28511181/1-cmdb-a-curated-database-of-genomic-variations-of-the-one-carbon-metabolism-pathway
#2
Manoj K Bhat, Veerendra P Gadekar, Aditya Jain, Bobby Paul, Padmalatha S Rai, Kapaettu Satyamoorthy
BACKGROUND: The one-carbon metabolism pathway is vital in maintaining tissue homeostasis by driving the critical reactions of folate and methionine cycles. A myriad of genetic and epigenetic events mark the rate of reactions in a tissue-specific manner. Integration of these to predict and provide personalized health management requires robust computational tools that can process multiomics data. The DNA sequences that may determine the chain of biological events and the endpoint reactions within one-carbon metabolism genes remain to be comprehensively recorded...
May 17, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28482349/genomics-of-cardiometabolic-disorders-in-sub-saharan-africa
#3
Sally N Adebamowo, Fasil Tekola-Ayele, Adebowale A Adeyemo, Charles N Rotimi
Sub-Saharan Africa (SSA) is experiencing a growing burden of cardiometabolic disorders, including diabetes, dyslipidemia, hypertension, obesity, coronary heart disease, and stroke. The increasing trends are expected to accelerate as SSA continues to experience economic progress, population growth, and the shift from communicable to noncommunicable diseases. These complex disorders are caused by multiple, potentially interacting, environmental, and genetic factors. While considerable progress has been made in the identification of the sociocultural, demographic, and lifestyle risk factors for cardiometabolic disorders, many genetic factors that underlie individual susceptibility to these diseases remain largely unknown...
May 9, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28478447/precision-genetic-and-genomic-medicine-in-the-middle-east-and-north-africa-region-are-we-there-yet
#4
Nadeem Bilani, Michael Dagher, Nathalie K Zgheib
PURPOSE: As precision medicine continues its expansion into clinical practice and research settings, it is time to investigate genetic and genomic research in the Middle East and North Africa (MENA) region to identify the strengths and deficits and to provide suggestions for future development. METHODS: We performed a literature review of any genetic or genomic publications on breast cancer and type 2 diabetes for the years 2000-2015 and evaluated the translational value of the research using multiple evaluation metrics, including the "continuum of translation" and the Health Impact Pyramid...
May 6, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28359063/reimbursed-price-of-orphan-drugs-current-strategies-and-potential-improvements
#5
Pierpaolo Mincarone, Carlo Giacomo Leo, Saverio Sabina, Antonio Sarriá-Santamera, Domenica Taruscio, Pedro Guillermo Serrano-Aguilar, Panos Kanavos
The pricing and reimbursement policies for pharmaceuticals are relevant to balance timely and equitable access for all patients, financial sustainability, and reward for valuable innovation. The proliferation of high-cost specialty medicines is particularly true in rare diseases (RDs) where the pricing mechanism is characterised by a lack of transparency. This work provides an overall picture of current strategies for the definition of the reimbursed prices of orphan drugs (ODs) and highlights some potential improvements...
March 31, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28288472/research-ethics-2-0-new-perspectives-on-norms-values-and-integrity-in-genomic-research-in-times-of-even-scarcer-resources
#6
Caroline Brall, Els Maeckelberghe, Rouven Porz, Jihad Makhoul, Peter Schröder-Bäck
Research ethics anew gained importance due to the changing scientific landscape and increasing demands and competition in the academic field. These changes are further exaggerated because of scarce(r) resources in some countries on the one hand and advances in genomics on the other. In this paper, we will highlight the current challenges thereof to scientific integrity. To mark key developments in research ethics, we will distinguish between what we call research ethics 1.0 and research ethics 2.0. Whereas research ethics 1...
March 14, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28068660/direct-to-consumer-genetic-testing-user-motivations-decision-making-and-perceived-utility-of-results
#7
J Scott Roberts, Michele C Gornick, Deanna Alexis Carere, Wendy R Uhlmann, Mack T Ruffin, Robert C Green
BACKGROUND/AIMS: To describe the interests, decision making, and responses of consumers of direct-to-consumer personal genomic testing (DTC-PGT) services. METHODS: Prior to 2013 regulatory restrictions on DTC-PGT services, 1,648 consumers from 2 leading companies completed Web surveys before and after receiving test results. RESULTS: Prior to testing, DTC-PGT consumers were as interested in ancestry (74% very interested) and trait information (72%) as they were in disease risks (72%)...
January 10, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28056457/personalised-medicine-a-new-approach-to-improving-health-in-indigenous-australian-populations
#8
Kym M Rae, Steve Grimson, Kirsty G Pringle
Personalised medicine is a newly emerging field with much to offer to all populations in improved clinical treatment options. Since the 1970s, clinicians and researchers have all been working towards improving the health of Indigenous Australians. However, there has been little research on the impact of genetics on Indigenous health, how genetic and environmental factors interact to contribute to poor health in Indigenous people, and how genetic factors specific to Indigenous people affect their responses to particular treatments...
January 6, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/27926908/community-perceptions-of-biobanking-participation-a-qualitative-study-among-mexican-americans-in-three-texas-cities
#9
Natalia I Heredia, Sarah Krasny, Larkin L Strong, Laura Von Hatten, Lynne Nguyen, Belinda M Reininger, Lorna H McNeill, María E Fernández
BACKGROUND: Most biospecimens in the US are collected from non-Hispanic Whites, limiting the generalizability of findings. There is a need to increase participation in biobanking among ethnic and racial minorities. The purpose of this study was to use qualitative methods to identify factors that may influence Mexican-American individuals' willingness to participate in biobanking. METHODS: We conducted 15 focus groups in three Texas cities with Mexican-American individuals, in both Spanish and English...
December 8, 2016: Public Health Genomics
https://www.readbyqxmd.com/read/27898412/the-rise-and-rise-of-exome-sequencing
#10
Chee-Seng Ku, David N Cooper, George P Patrinos
Beginning in 2009, the advent of exome sequencing has contributed significantly towards new discoveries of heritable germline mutations and de novo mutations for rare Mendelian disorders with hitherto unknown genetic aetiologies. Exome sequencing is an efficient tool to identify disease mutations without the need of a multi-generational pedigree. Sequencing a single proband or multiple affected individuals has been shown to be successful in identifying disease mutations, but parents would be required in the case of de novo mutations...
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27811475/participation-in-genetic-research-amazon-s-mechanical-turk-workforce-in-the-united-states-and-india
#11
Susan W Groth, Ann Dozier, Margaret Demment, Dongmei Li, I Diana Fernandez, Jack Chang, Timothy Dye
BACKGROUND: Genomic research has innumerable benefits. However, if people are unwilling to participate in genomic research, application of knowledge will be limited. This study examined the likelihood of respondents from a high- and a low- to middle-income country to participate in genetic research. METHODS: Cross-sectional data were collected using Amazon's Mechanical Turk workforce to ascertain attitudes toward participation in genetic research. Registered country of residence was either the US (n = 505) or India (n = 505)...
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27788513/validation-of-an-efficient-screening-tool-to-identify-low-income-women-at-high-risk-for-hereditary-breast-cancer
#12
Susan L Stewart, Celia P Kaplan, Robin Lee, Galen Joseph, Leah Karliner, Jennifer Livaudais-Toman, Rena J Pasick
BACKGROUND/AIMS: We compared the 6-Point Scale, a screening tool to identify low-income women for referral to genetic counseling, with genetic counselors' (GCs') recommendation and the Referral Screening Tool (RST). METHODS: RST and 6-Point Scale scores were computed for 2 samples: (1) S1, public hospital mammography clinic patients in 2006-2010 (n = 744), classified by GCs as high risk (meriting referral to counseling) or not high risk, and (2) S2, primary care patients enrolled in an education intervention study in 2011-2012 (n = 1,425)...
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27728908/a-clinical-and-molecular-survey-of-62-cystic-fibrosis-patients-from-umbria-central-italy-disclosing-a-high-frequency-2-4-of-the-2184insa-allele-implications-for-screening
#13
Paolo Prontera, Ilenia Isidori, Valeria Mencarini, Guido Pennoni, Amedea Mencarelli, Gabriela Stangoni, Giuseppe Di Cara, Alberto Verrotti
Genetic testing strategies and counseling in cystic fibrosis (CF) can be problematic due to its extreme allelic heterogeneity and the difficult clinical interpretation of rare variants. Since in a previous survey of Italian CF patients, Umbria (a small region with about 900,000 inhabitants) was excluded due to the low number of chromosomes tested (<50), we have performed a comprehensive retrospective clinical and molecular survey of 62 CF patients coming from this region. We have summarized all the genotypic and phenotypic data in a table, and we interviewed the older patients in order to obtain a comprehensive overview of their conditions...
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27676083/test-pricing-and-reimbursement-in-genomic-medicine-towards-a-general-strategy
#14
Athanassios Vozikis, David N Cooper, Christina Mitropoulou, Manousos E Kambouris, Angela Brand, Vita Dolzan, Paolo Fortina, Federico Innocenti, Ming Ta Michael Lee, Lada Leyens, Milan Macek, Fahd Al-Mulla, Barbara Prainsack, Alessio Squassina, Domenica Taruscio, Ron H van Schaik, Effy Vayena, Marc S Williams, George P Patrinos
This paper aims to provide an overview of the rationale and basic principles guiding the governance of genomic testing services, to clarify their objectives, and allocate and define responsibilities among stakeholders in a health-care system, with a special focus on the EU countries. Particular attention is paid to issues pertaining to pricing and reimbursement policies, the availability of essential genomic tests which differs between various countries owing to differences in disease prevalence and public health relevance, the prescribing and use of genomic testing services according to existing or new guidelines, budgetary and fiscal control, the balance between price and access to innovative testing, monitoring and evaluation for cost-effectiveness and safety, and the development of research capacity...
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27649321/2016-golden-helix-summer-school-cancer-genomics-and-individualized-therapy-22-26-september-2016-syros-island-greece-abstracts
#15
(no author information available yet)
No abstract text is available yet for this article.
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27614873/prevalence-of-sickle-cell-trait-and-reliability-of-self-reported-status-among-expectant-parents-in-nigeria-implications-for-targeted-newborn-screening
#16
Amanda R Burnham-Marusich, Chinenye O Ezeanolue, Michael C Obiefune, Wei Yang, Alice Osuji, Amaka G Ogidi, Aaron T Hunt, Dina Patel, Echezona E Ezeanolue
BACKGROUND/AIMS: Sickle cell disease (SCD) is a life-threatening, autosomal recessive blood disorder prevalent in sub-Saharan Africa. We identified the prevalence of sickle cell trait (SCT) among pregnant women and their male partners in Enugu State, Nigeria, and determined the accuracy of self-reported sickle cell status and its reliability for identifying high-risk newborns for targeted screening. METHODS: We conducted a nested cohort study of expectant parents enrolled in the Healthy Beginning Initiative (HBI)...
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27603671/let-the-individuals-directly-concerned-decide-a-solution-to-tragic-choices-in-genetic-risk-information
#17
Serena Oliveri, Gabriella Pravettoni, Chiara Fioretti, Mats G Hansson
Health-care systems as well as legislators and society seem largely unprepared to face and manage the massive production of genetic risk information. Ethics committees and professional bodies usually do not involve the individuals directly concerned in defining guidelines for genetic risk communication. Therefore, they do not always reflect people's needs and preferences. We argue in this article that we currently experience a cultural shift in medicine where individuals' concerns and preferences regarding genetic risk information are playing a more significant role than before, and that this should have some normative implications...
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27595410/intellectual-disability-in-a-birth-cohort-prevalence-etiology-and-determinants-at-the-age-of-4-years
#18
Simone M Karam, Aluísio J D Barros, Alícia Matijasevich, Iná S Dos Santos, Luciana Anselmi, Fernando Barros, Sandra Leistner-Segal, Têmis M Félix, Mariluce Riegel, Sharbel W Maluf, Roberto Giugliani, Maureen M Black
BACKGROUND: Intellectual disability (ID), characterized by impairments in intellectual function and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology, but few are cohort studies in middle-income countries. AIMS: To estimate prevalence, etiology, and factors related to ID among children prospectively followed since birth in a Southern Brazilian city (Pelotas). METHODS: In 2004, maternity hospitals were visited daily and births were identified...
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27553645/views-of-cohort-study-participants-about-returning-research-results-in-the-context-of-precision-medicine
#19
Travis Hyams, Deborah J Bowen, Celeste Condit, Jeremy Grossman, Megan Fitzmaurice, Deborah Goodman, Lari Wenzel, Karen L Edwards
BACKGROUND: The practice of biorepository-based genetics research raises questions related to what ethical obligations researchers have to their participants. It is important to explore and include the thoughts of current biorepository participants as we move forward with this type of research. METHODS: Thirty participants (17 cancer patients, 7 cancer-free controls, and 6 relatives) were drawn from the Northwest Cancer Genetics Registry and participated in qualitative interviews lasting between 45 and 90 min...
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27544410/knowledge-of-genetics-and-attitudes-toward-genetic-testing-among-college-students-in-saudi-arabia
#20
Duaa Olwi, Leena Merdad, Eman Ramadan
BACKGROUND: Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses the knowledge of genetics and attitudes toward genetic testing among college students. METHODS: A cross-sectional study was conducted using a multistage stratified sample of 920 senior college students enrolled at King Abdulaziz University, Saudi Arabia...
2016: Public Health Genomics
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