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Public Health Genomics

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https://www.readbyqxmd.com/read/29069661/genetics-and-insurance-in-australia-concerns-around-a-self-regulated-industry
#1
Ainsley J Newson, Jane Tiller, Louise A Keogh, Margaret Otlowski, Paul Lacaze
BACKGROUND: Regulating the use of genetic information in insurance is an issue of ongoing international debate. In Australia, providers of life and other mutually rated insurance products can request applicants to disclose all results from any genetic test. Insurers can then use this information to adjust premiums and make policy decisions. The Australian Financial Services Council (FSC; an industry body) developed and maintains the relevant industry standard, which was updated in late 2016...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/29069655/online-education-and-e-consent-for-genescreen-a-preventive-genomic-screening-study
#2
R Jean Cadigan, Rita Butterfield, Christine Rini, Margaret Waltz, Kristine J Kuczynski, Kristin Muessig, Katrina A B Goddard, Gail E Henderson
BACKGROUND: Online study recruitment is increasingly popular, but we know little about the decision making that goes into joining studies in this manner. In GeneScreen, a genomic screening study that utilized online education and consent, we investigated participants' perceived ease when deciding to join and their understanding of key study features. METHODS: Individuals were recruited via mailings that directed them to a website where they could learn more about GeneScreen, consent to participate, and complete a survey...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/29050032/providing-personalised-nutrition-consumers-trust-and-preferences-regarding-sources-of-information-service-providers-and-regulators-and-communication-channels
#3
Rui Poínhos, Bruno M P M Oliveira, Ivo A van der Lans, Arnout R H Fischer, Aleksandra Berezowska, Audrey Rankin, Sharron Kuznesof, Barbara Stewart-Knox, Lynn J Frewer, Maria D V de Almeida
BACKGROUND/AIMS: Personalised nutrition has potential to revolutionise dietary health promotion if accepted by the general public. We studied trust and preferences regarding personalised nutrition services, how they influence intention to adopt these services, and cultural and social differences therein. METHODS: A total of 9,381 participants were quota-sampled to be representative of each of 9 EU countries (Germany, Greece, Ireland, Poland, Portugal, Spain, the Netherlands, the UK, and Norway) and surveyed by a questionnaire assessing their intention to adopt personalised nutrition, trust in service regulators and information sources, and preferences for service providers and information channels...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/29045944/prevalence-estimates-of-rare-congenital-anomalies-by-integrating-two-population-based-registries-in-tuscany-italy
#4
Alessio Coi, Michele Santoro, Anna Pierini, Sonia Marrucci, Federica Pieroni, Fabrizio Bianchi
BACKGROUND/AIMS: Population-based registries play a key role in the epidemiological surveillance of congenital anomalies (CAs). This study is aimed at improving the epidemiological surveillance and providing prevalence estimates of rare CAs using the Registry of Rare Diseases as an added data source to the Registry of Congenital Anomalies. METHODS: Cases of diagnosed rare CAs (2006-2013) were extracted from the Tuscany Registry of Rare Diseases and the Tuscany Registry of Congenital Anomalies in order to set up an integrated dataset...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28858862/pancreas-cancer-precision-treatment-using-avatar-mice-from-a-bioinformatics-perspective
#5
Javier Perales-Patón, Elena Piñeiro-Yañez, Héctor Tejero, Pedro P López-Casas, Manuel Hidalgo, Gonzalo Gómez-López, Fátima Al-Shahrour
Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer-related death among solid malignancies. Unfortunately, PDAC lethality has not substantially decreased over the past 20 years. This aggressiveness is related to the genomic complexity and heterogeneity of PDAC, but also to the absence of an effective screening for the detection of early-stage tumors and a lack of efficient therapeutic options. Therefore, there is an urgent need to improve the arsenal of anti-PDAC drugs for an effective treatment of these patients...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28848219/cancer-genomic-resources-and-present-needs-in-the-latin-american-region
#6
Ángela Torres, Javier Oliver, Cecilia Frecha, Ana Lorena Montealegre, Rosalía Quezada-Urbán, Clara Estela Díaz-Velásquez, Felipe Vaca-Paniagua, Sandra Perdomo
In Latin America (LA), cancer is the second leading cause of death, and little is known about the capacities and needs for the development of research in the field of cancer genomics. In order to evaluate the current capacity for and development of cancer genomics in LA, we collected the available information on genomics, including the number of next-generation sequencing (NGS) platforms, the number of cancer research institutions and research groups, publications in the last 10 years, educational programs, and related national cancer control policies...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28848209/cancer-genomics-and-public-health
#7
Núria Malats, Theodora Katsila, George P Patrinos
No abstract text is available yet for this article.
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28817817/assessment-of-direct-to-consumer-genetic-testing-policy-in-korea-based-on-consumer-preference
#8
Gicheol Jeong
AIMS: In June 2016, Korea permitted direct-to-consumer genetic testing (DTC-GT) on 42 genes. However, both the market and industry have not yet been fully activated. Considering the aforementioned context, this study provides important insights. METHODS: The Korean DTC-GT policy assessment is based on consumer preference analysis using a discrete choice experiment. In August 2016, a web-based survey was conducted to collect data from 1,200 respondents. RESULTS: The estimation results show that consumers prefer a DTC-GT product that is cheap, tests various items or genes, offers accurate test results, and guarantees the confidentiality of all information...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28813717/exploring-the-use-of-a-participative-design-in-the-early-development-of-a-predictive-test-the-importance-of-physician-involvement
#9
Sophie Veilleux, Maude Villeneuve, Nathalie Lachapelle, Rita Kohen, Luc Vachon, Brian White Guay, John D Rioux, Alain Bitton
In this study, we contribute to the personalized medicine and health care management literature by developing and testing a new participative design approach. We propose that involving gastroenterologists in the development of a predictive test to assist them in their clinical decision-making process for the treatment of inflammatory bowel diseases will increase the likelihood of their acceptance of the innovation. Based on data obtained from 6 focus groups across Canada from a total of 28 physicians, analyses reveal that current tools do not enable discriminating between treatment options to find the best fit for each patient...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28813711/subjects-at-risk-for-genetic-late-onset-neurological-diseases-objective-knowledge
#10
Ângela Leite, Fernanda Leite, Maria Alzira P Dinis
BACKGROUND/AIMS: This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). METHODS: Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: "What do you know about this disease?...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28723694/exosomes-a-cancer-theranostics-road-map
#11
Angeliki Panagiotara, Athina Markou, Evi S Lianidou, George P Patrinos, Theodora Katsila
Interindividual variability is yet to be fully characterized, and for this, optimum patient stratification and companion diagnostics are still lacking. Especially when complex disease phenotypes and/or polygenic diseases are considered, patient monitoring and disease management become rather challenging, while acquired resistance to therapy and/or toxicity events are among the unmet needs in the clinic. No doubt, biomarkers are of great importance to disease management and tailor-made theranostics. Microfluidics has gathered great attention lately, mostly due to its low-invasive nature compared to tissue biopsies...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#12
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...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28704821/application-of-the-drugevar-database-in-cancer-genomics-and-pharmacogenomics
#13
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...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28700989/doritool-a-bioinformatics-integrative-tool-for-post-association-functional-annotation
#14
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...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28689205/genomics-in-primary-and-secondary-prevention-of-pancreatic-cancer
#15
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...
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
#16
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...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28595192/cancer-precision-medicine-why-more-is-more-and-dna-is-not-enough
#17
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...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28521327/epigenomics-pharmacoepigenomics-and-personalized-medicine-in-cervical-cancer
#18
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...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28511181/1-cmdb-a-curated-database-of-genomic-variations-of-the-one-carbon-metabolism-pathway
#19
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...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28482349/genomics-of-cardiometabolic-disorders-in-sub-saharan-africa
#20
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
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