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Public Health Genomics

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https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#1
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28704821/application-of-the-drugevar-database-in-cancer-genomics-and-pharmacogenomics
#2
Konstantinos Sarris, Angeliki Komianou, George P Patrinos, Theodora Katsila
In the post-genomic era, there is an increasing and urgent need for managing and visualizing big data. Data complexity and size will turn information growth into knowledge growth only if presented in a comprehensive and user-friendly way. In such a context, the information technology community collaborates in a multidisciplinary manner with other scientific fields searching for and/or developing tools and services for data management and visualization. We have previously developed DruGeVar, a comprehensive database that triangulates drugs with genes and pharmacogenomic biomarkers to serve clinical pharmacogenomics...
July 14, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28700989/doritool-a-bioinformatics-integrative-tool-for-post-association-functional-annotation
#3
Isabel Martín-Antoniano, Lola Alonso, Miguel Madrid, Evangelina López de Maturana, Núria Malats
The emergence of high-throughput data in biology has increased the need for functional in silico analysis and prompted the development of integrative bioinformatics tools to facilitate the obtainment of biologically meaningful data. In this paper, we present DoriTool, a comprehensive, easy, and friendly pipeline integrating biological data from different functional tools. The tool was designed with the aim to maximize reproducibility and reduce the working time of the researchers, especially of those with limited bioinformatics skills, and to help them with the interpretation of the results...
July 13, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28689205/genomics-in-primary-and-secondary-prevention-of-pancreatic-cancer
#4
Núria Malats, Esther Molina-Montes, Carlo La Vecchia
BACKGROUND: Pancreatic cancer (PC) is one of the deadliest cancers worldwide for which little clinical progress has been made in the last decades. Furthermore, increased trends of PC mortality rates have been reported in Westernised countries. PC is usually diagnosed in advanced stages, precluding patients of an effective treatment. Identifying high-risk populations and early detection markers is the first and crucial step to impact on these figures and change the PC horizon. AIMS/OBJECTIVES: To discuss the published body of evidence on host and tumor genomics promising markers for primary and/or secondary personalised PC prevention, as well as the future perspectives in the field...
July 8, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28641282/health-related-genetic-direct-to-consumer-tests-in-the-german-setting-the-available-offer-and-the-potential-implications-for-a-solidarily-financed-health-care-system
#5
Marika Plöthner, Mike Klora, Daniel Rudolph, Johann-Matthias Graf von der Schulenburg
BACKGROUND: The global genetic direct-to-consumer (DTC) market will reach a volume of USD 230 billion in 2018. The expenditures for this genetic analysis are borne by the customer, whereas consequential costs may arise for a solidarily financed system. In a first step, it is essential to gain an overview of the currently available offer in the German setting. METHODS: In April 2016, we conducted a systematic internet search in the Google search engine. In November 2016, we updated the information of the webpages in terms of country, language, types of health-related tests, additional offer of non-health-related DTC test, information about sensitivity and specificity, certification and accreditation, costs as well as reference to German Act on Genetic Testing...
June 23, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28595192/cancer-precision-medicine-why-more-is-more-and-dna-is-not-enough
#6
Moritz Schütte, Lesley A Ogilvie, Damian T Rieke, Bodo M H Lange, Marie-Laure Yaspo, Hans Lehrach
Every tumour is different. They arise in patients with different genomes, from cells with different epigenetic modifications, and by random processes affecting the genome and/or epigenome of a somatic cell, allowing it to escape the usual controls on its growth. Tumours and patients therefore often respond very differently to the drugs they receive. Cancer precision medicine aims to characterise the tumour (and often also the patient) to be able to predict, with high accuracy, its response to different treatments, with options ranging from the selective characterisation of a few genomic variants considered particularly important to predict the response of the tumour to specific drugs, to deep genome analysis of both tumour and patient, combined with deep transcriptome analysis of the tumour...
June 9, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28521327/epigenomics-pharmacoepigenomics-and-personalized-medicine-in-cervical-cancer
#7
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
#8
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/28478447/precision-genetic-and-genomic-medicine-in-the-middle-east-and-north-africa-region-are-we-there-yet
#9
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/28482349/genomics-of-cardiometabolic-disorders-in-sub-saharan-africa
#10
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...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28359063/reimbursed-price-of-orphan-drugs-current-strategies-and-potential-improvements
#11
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...
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
#12
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...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28068660/direct-to-consumer-genetic-testing-user-motivations-decision-making-and-perceived-utility-of-results
#13
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%)...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28056457/personalised-medicine-a-new-approach-to-improving-health-in-indigenous-australian-populations
#14
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...
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
#15
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...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/27898412/the-rise-and-rise-of-exome-sequencing
#16
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
#17
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
#18
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
#19
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
#20
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
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