399 results match your criteria Public Health Genomics [Journal]


How Online Family History Tool Design and Message Content Impact User Perceptions: An Examination of Family HealthLink.

Public Health Genomics 2018 Dec 12:1-14. Epub 2018 Dec 12.

Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, USA.

Background: Family health history tools have the ability to improve health outcomes and promote patient-provider communication, but some research suggests their effectiveness is limited. Tool design features may heavily influence users' perceptions of the tools.

Aims: This study provides a summative evaluation of the Family HealthLink tool, which assesses cancer and coronary heart disease risk based on personal and family health history, to better understand how tool design and message content impact user perceptions. Read More

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http://dx.doi.org/10.1159/000493847DOI Listing
December 2018
1 Read

Developing a Process for Returning Medically Actionable Genomic Variants to Latino Patients in a Federally Qualified Health Center.

Public Health Genomics 2018 Dec 6:1-8. Epub 2018 Dec 6.

Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.

Aim: To develop a process for returning medically actionable genomic variants to Latino patients receiving care in a Federally Qualified Health Center.

Methods: Prior to recruitment, researchers met with primary care providers to (1) orient clinicians to the project, (2) establish a process for returning actionable and nonactionable results to participants and providers through the electronic health record, and (3) develop a process for offering clinical decision support for follow-up education and care. A Community Advisory Board was engaged to provide input on recruitment strategies and materials for conveying results to participants. Read More

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https://www.karger.com/Article/FullText/494488
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http://dx.doi.org/10.1159/000494488DOI Listing
December 2018
4 Reads

Current Social Media Conversations about Genetics and Genomics in Health: A Twitter-Based Analysis.

Public Health Genomics 2018 Nov 22:1-7. Epub 2018 Nov 22.

The National Cancer Institute, Rockville, Maryland, USA.

Background: The growing availability of genomic information to the public may spur discussion about genetics and genomics on social media. Sites, including Twitter, provide a unique space for the public to access and discuss health information. The objective of this study was to better understand how social media users are sharing information about genetics and genomics in health and healthcare and what information is most commonly discussed among Twitter users. Read More

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http://dx.doi.org/10.1159/000494381DOI Listing
November 2018
2 Reads

Implementation of a Carrier Screening Program in a High-Risk Undergraduate Student Population Using Digital Marketing, Online Education, and Telehealth.

Public Health Genomics 2018 Nov 8:1-10. Epub 2018 Nov 8.

Background/aims: Access to preconception carrier screening, which provides at-risk couples with more reproductive options, is critically important. To address this need in the Jewish community, genetic counselors at Emory University launched JScreen (www.jscreen. Read More

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https://www.karger.com/Article/FullText/493971
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http://dx.doi.org/10.1159/000493971DOI Listing
November 2018
1 Read

Factors Associated with Acceptability, Consideration and Intention of Uptake of Direct-To-Consumer Genetic Testing: A Survey Study.

Public Health Genomics 2018 Oct 25:1-8. Epub 2018 Oct 25.

Department of Health Promotion, Faculty of Health, Medicine and Life Sciences, Maastricht University Medical Centre, Maastricht, the Netherlands.

Background: With interest in personalised health care growing, so is interest in personal genetic testing. This is now offered direct-to-consumer, thereby referred to as direct-to-consumer genetic testing (DTC-GT). Criticisms have been expressed on whether a truly informed decision to undergo testing is made with regard to these services. Read More

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https://www.karger.com/Article/FullText/492960
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http://dx.doi.org/10.1159/000492960DOI Listing
October 2018
4 Reads

Controversies among Cancer Registry Participants, Genomic Researchers, and Institutional Review Boards about Returning Participants' Genomic Results.

Public Health Genomics 2018 Sep 18:1-9. Epub 2018 Sep 18.

University of Washington, Seattle, Washington, USA.

Objectives: Genomic information will increasingly be used to aid in the prevention, diagnosis, and treatment of disease. Several national initiatives are paving the way for this new reality, while also promoting new models of participant-engaged research. We compare the opinions of research participants in a cancer registry, human genetic researchers, and institutional review board (IRB) professionals about the return of individual-level genetic results (ROR). Read More

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http://dx.doi.org/10.1159/000490235DOI Listing
September 2018

Ethical, Legal, and Regulatory Issues for the Implementation of Omics-Based Risk Prediction of Women's Cancer: Points to Consider.

Public Health Genomics 2018 Sep 17:1-8. Epub 2018 Sep 17.

University College London Hospital, London, United Kingdom.

Background And Objective: Advances in omics open new opportunities for cancer risk prediction and risk-based screening interventions. However, implementation of risk prediction in clinical practice may impact the ethical, legal, and regulatory aspects of current cancer screening programs. In order to support decision-making, we analyzed the ethical, legal, and regulatory issues and developed a set of Points to Consider to support management of these issues. Read More

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http://dx.doi.org/10.1159/000492663DOI Listing
September 2018
8 Reads

Submitted Abstracts from Summer School Participants.

Authors:

Public Health Genomics 2018 14;21 Suppl 1:10-23. Epub 2018 Sep 14.

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http://dx.doi.org/10.1159/000493204DOI Listing
September 2018

Abstracts from Plenary and Keynote Speakers.

Authors:

Public Health Genomics 2018 14;21 Suppl 1:1-9. Epub 2018 Sep 14.

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http://dx.doi.org/10.1159/000493202DOI Listing
September 2018

Recall and Retention of Consent Procedure Contents and Decisions: Results of a Randomized Controlled Trial.

Public Health Genomics 2018 Sep 10:1-10. Epub 2018 Sep 10.

Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.

Background: Residual tissue samples, i.e., samples excised for diagnosis or during treatment, are commonly used for medical research. Read More

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http://dx.doi.org/10.1159/000492662DOI Listing
September 2018
1 Read

Optimising SME Potential in Modern Healthcare Systems: Challenges, Opportunities and Policy Recommendations.

Public Health Genomics 2018 Aug 24:1-17. Epub 2018 Aug 24.

Institute for Public Health Genomics, Department of Genetics and Cell Biology, Research Institute GROW, Faculty of Health, Medicine and Life Sciences, University of Maastricht, Maastricht, the Netherlands.

The expansion of European small and medium-sized enterprises (SMEs) into the healthcare innovation arena suggests that this should be an important EU policy priority that can significantly benefit the economy, society and citizens, including patients. Deepening and widening of Europe's SMEs' growth and activities is part of the EU objectives as set out by the European Commission in its Communications "Small Business Act" for Europe [1] and "Small Business, Big World" [2]. However, innovative healthcare SMEs have struggled to get traction despite the sector being worth more than EUR 250 billion. Read More

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http://dx.doi.org/10.1159/000492809DOI Listing
August 2018
2 Reads

Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity.

Public Health Genomics 2017 7;20(6):332-342. Epub 2018 Aug 7.

School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Background/aims: Recent genomic medicine initiatives underscore the importance of including diverse participants in research. Considerable literature has identified barriers to and facilitators of increasing diversity, yet disparities in recruiting and retaining adequate numbers of participants from diverse groups continue to limit the generalizability of clinical genomic research.

Methods: The North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing study employed evidence-based strategies to enhance the participation of under-represented minority patients. Read More

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http://dx.doi.org/10.1159/000490519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112240PMC
August 2018
4 Reads

Potentials and Challenges of the Health Data Cooperative Model.

Public Health Genomics 2017 22;20(6):321-331. Epub 2018 Jun 22.

Faculty of Health Medicine and Life Sciences (FHML), Maastricht University, Maastricht, the Netherlands.

Introduction: Currently, abundances of highly relevant health data are locked up in data silos due to decentralized storage and data protection laws. The health data cooperative (HDC) model is established to make this valuable data available for societal purposes. The aim of this study is to analyse the HDC model and its potentials and challenges. Read More

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http://dx.doi.org/10.1159/000489994DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159824PMC

Assessing Genetic Literacy Awareness and Knowledge Gaps in the US Population: Results from the Health Information National Trends Survey.

Public Health Genomics 2017 31;20(6):343-348. Epub 2018 May 31.

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

Background/aims: Public understanding of the role of genetics in disease risk is key to appropriate disease prevention and detection. This study assessed the current extent of awareness and use of genetic testing in the US population. Additionally, the study identified characteristics of subgroups more likely to be at risk for low genetic literacy. Read More

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http://dx.doi.org/10.1159/000489117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095736PMC
May 2018
1 Read

Data, Technology, and Public Health.

Public Health Genomics 2017 2;20(6):309-311. Epub 2018 May 2.

Graduate Institute of International and Development Studies, Geneva, Switzerland.

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http://dx.doi.org/10.1159/000488703DOI Listing
May 2018
2 Reads

Big Data for Public Health Policy-Making: Policy Empowerment.

Public Health Genomics 2017 4;20(6):312-320. Epub 2018 Apr 4.

United Nations University - Maastricht Economic and Social Research Institute on Innovation and Technology (UNU-MERIT), Maastricht University, Maastricht, the Netherlands.

Digitization is considered to radically transform healthcare. As such, with seemingly unlimited opportunities to collect data, it will play an important role in the public health policy-making process. In this context, health data cooperatives (HDC) are a key component and core element for public health policy-making and for exploiting the potential of all the existing and rapidly emerging data sources. Read More

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http://dx.doi.org/10.1159/000486587DOI Listing
April 2018
1 Read

Effects of Diet on Telomere Length: Systematic Review and Meta-Analysis.

Public Health Genomics 2017 13;20(5):286-292. Epub 2018 Feb 13.

Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, Brazil.

Background: The goal of this systematic review and meta-analysis is to determine the effect of diet on telomere length.

Methods: We searched the following databases: MEDLINE, Embase, LILACS, CINAHL, ISI Web of Science, and Scopus, as well as the Cochrane Central Register of Controlled Trials and the National Institutes of Health, from inception to December 2016. Articles that assessed effects of diet on telomere length were included. Read More

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http://dx.doi.org/10.1159/000486586DOI Listing
November 2018
7 Reads
2.460 Impact Factor

Attitudes towards Personal Genomics and Sharing of Genetic Data among Older Swiss Adults: A Qualitative Study.

Public Health Genomics 2017 7;20(5):293-306. Epub 2018 Feb 7.

United Nations University - Maastricht Economic and Social Research Institute on Innovation and Technology (UNU-MERIT), Maastricht University, Maastricht, the Netherlands.

Objective: To assess the willingness of older Swiss adults to share genetic data for research purposes and to investigate factors that might impact their willingness to share data.

Methods: Semi-structured interviews were conducted among 40 participants (19 male and 21 female) aged between 67 and 92 years, between December 2013 and April 2014 attending the Seniorenuniversität Zürich, Switzerland. All interviews were audio-recorded, transcribed verbatim, and anonymized. Read More

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http://dx.doi.org/10.1159/000486588DOI Listing
November 2018
1 Read
2.460 Impact Factor

Metabolomics in Sepsis and Its Impact on Public Health.

Public Health Genomics 2017 19;20(5):274-285. Epub 2018 Jan 19.

UNU-MERIT (Maastricht Economic and Social Research Institute on Innovation and Technology), Maastricht University, Maastricht, the Netherlands.

Sepsis, with its often devastating consequences for patients and their families, remains a major public health concern that poses an increasing financial burden. Early resuscitation together with the elucidation of the biological pathways and pathophysiological mechanisms with the use of "-omics" technologies have started changing the clinical and research landscape in sepsis. Metabolomics (i. Read More

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http://dx.doi.org/10.1159/000486362DOI Listing
November 2018
1 Read

Antibiotics-Induced Obesity: A Mitochondrial Perspective.

Public Health Genomics 2017 15;20(5):257-273. Epub 2017 Dec 15.

Department of Cell and Molecular Biology, School of Life Sciences, Manipal University, Manipal, India.

Antibiotics are the first line of treatment against infections and have contributed immensely to reduce the morbidity and mortality rates. Recently, extensive use of antibiotics has led to alterations of the gut microbiome, predisposition to various diseases and most importantly, increase in the emergence of antibiotic-resistant bacteria, which poses a major threat to global public health. Another major issue faced worldwide due to unregulated use of antibiotics in children as well as in adults is the influence of metabolism and body weight homeostasis, leading to obesity. Read More

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http://dx.doi.org/10.1159/000485095DOI Listing
November 2018
49 Reads

Genetics and Insurance in Australia: Concerns around a Self-Regulated Industry.

Public Health Genomics 2017 26;20(4):247-256. Epub 2017 Oct 26.

Sydney Health Ethics, Sydney School of Public Health, University of Sydney, Sydney, NSW, Australia.

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. Read More

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http://dx.doi.org/10.1159/000481450DOI Listing
June 2018
6 Reads

Online Education and e-Consent for GeneScreen, a Preventive Genomic Screening Study.

Public Health Genomics 2017 26;20(4):235-246. Epub 2017 Oct 26.

Department of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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. Read More

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http://dx.doi.org/10.1159/000481359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698149PMC
June 2018
5 Reads

Providing Personalised Nutrition: Consumers' Trust and Preferences Regarding Sources of Information, Service Providers and Regulators, and Communication Channels.

Public Health Genomics 2017 20;20(4):218-228. Epub 2017 Oct 20.

Faculty of Nutrition and Food Sciences, University of Porto, Porto, Portugal.

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. Read More

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http://dx.doi.org/10.1159/000481357DOI Listing
June 2018
3 Reads

Prevalence Estimates of Rare Congenital Anomalies by Integrating Two Population-Based Registries in Tuscany, Italy.

Public Health Genomics 2017 19;20(4):229-234. Epub 2017 Sep 19.

Institute of Clinical Physiology, National Research Council, Pisa, Italy.

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. Read More

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http://dx.doi.org/10.1159/000481358DOI Listing
June 2018
6 Reads

Pancreas Cancer Precision Treatment Using Avatar Mice from a Bioinformatics Perspective.

Public Health Genomics 2017 1;20(2):81-91. Epub 2017 Sep 1.

Bioinformatics Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

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. Read More

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http://dx.doi.org/10.1159/000479812DOI Listing
April 2018
14 Reads

Cancer Genomic Resources and Present Needs in the Latin American Region.

Public Health Genomics 2017 22;20(3):194-201. Epub 2017 Aug 22.

Institute of Nutrition, Genetics, and Metabolism Research, Faculty of Medicine, Universidad El Bosque, Bogotá, Colombia.

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. Currently, there are 221 NGS platforms and 118 research groups in LA developing cancer genomics projects. Read More

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http://dx.doi.org/10.1159/000479291DOI Listing
April 2018
5 Reads

Cancer Genomics and Public Health.

Public Health Genomics 2017 24;20(2):67-69. Epub 2017 Aug 24.

Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

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http://dx.doi.org/10.1159/000479811DOI Listing
August 2017
6 Reads

Assessment of Direct-to-Consumer Genetic Testing Policy in Korea Based on Consumer Preference.

Authors:
Gicheol Jeong

Public Health Genomics 2017 18;20(3):166-173. Epub 2017 Aug 18.

Science and Technology Policy Institute (STEPI), Sicheong-daero, Sejong-si, Republic of Korea.

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. Read More

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http://dx.doi.org/10.1159/000479290DOI Listing
April 2018
7 Reads

Exploring the Use of a Participative Design in the Early Development of a Predictive Test: The Importance of Physician Involvement.

Public Health Genomics 2017 17;20(3):174-187. Epub 2017 Aug 17.

Faculté des sciences de l'administration, Université Laval, Québec, QC, Canada.

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. Read More

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http://dx.doi.org/10.1159/000479289DOI Listing
April 2018
8 Reads

Subjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledge.

Public Health Genomics 2017 17;20(3):158-165. Epub 2017 Aug 17.

Universidade Europeia, Laureate International Universities, Lisbon, Portugal.

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?."

Results: From 10 categories of answers, references to the disease, quantitative answers, references to the family, and metaphors stood out. Read More

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http://dx.doi.org/10.1159/000479292DOI Listing
April 2018
4 Reads

Exosomes: A Cancer Theranostics Road Map.

Public Health Genomics 2017 20;20(2):116-125. Epub 2017 Jul 20.

Department of Pharmacy, School of Health Sciences, University Campus, Rion, University of Patras, Patras, Greece.

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. Read More

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http://dx.doi.org/10.1159/000478253DOI Listing
April 2018
3 Reads

A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.

Public Health Genomics 2017 19;20(3):188-193. Epub 2017 Jul 19.

Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

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. Read More

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http://dx.doi.org/10.1159/000477560DOI Listing
April 2018
37 Reads

Application of the DruGeVar Database in Cancer Genomics and Pharmacogenomics.

Public Health Genomics 2017 14;20(2):142-147. Epub 2017 Jul 14.

Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.

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. Read More

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http://dx.doi.org/10.1159/000478254DOI Listing
April 2018
7 Reads

DoriTool: A Bioinformatics Integrative Tool for Post-Association Functional Annotation.

Public Health Genomics 2017 13;20(2):126-135. Epub 2017 Jul 13.

Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

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. Read More

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http://dx.doi.org/10.1159/000477561DOI Listing
April 2018
16 Reads

Genomics in Primary and Secondary Prevention of Pancreatic Cancer.

Public Health Genomics 2017 8;20(2):92-99. Epub 2017 Jul 8.

Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Center (CNIO), and CIBERONC, Madrid, Spain.

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. Read More

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http://dx.doi.org/10.1159/000477234DOI Listing
April 2018
16 Reads

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.

Public Health Genomics 2017 23;20(4):203-217. Epub 2017 Jun 23.

Center for Health Economics Research Hannover (CHERH), Leibniz University Hannover, Hannover, Germany.

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. Read More

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http://dx.doi.org/10.1159/000477559DOI Listing
June 2018
7 Reads

Cancer Precision Medicine: Why More Is More and DNA Is Not Enough.

Public Health Genomics 2017 9;20(2):70-80. Epub 2017 Jun 9.

Alacris Theranostics GmbH, Berlin, Germany.

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. Read More

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http://dx.doi.org/10.1159/000477157DOI Listing
April 2018
12 Reads

Epigenomics, Pharmacoepigenomics, and Personalized Medicine in Cervical Cancer.

Public Health Genomics 2017 19;20(2):100-115. Epub 2017 May 19.

Department of Cell and Molecular Biology, School of Life Sciences, Manipal University, Karnataka, India.

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. Read More

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https://www.karger.com/Article/FullText/475804
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http://dx.doi.org/10.1159/000475804DOI Listing
April 2018
30 Reads
1 Citation
2.462 Impact Factor

1-CMDb: A Curated Database of Genomic Variations of the One-Carbon Metabolism Pathway.

Public Health Genomics 2017 17;20(2):136-141. Epub 2017 May 17.

Department of Bioinformatics, School of Life Sciences, Manipal University, Manipal, India.

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. Read More

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http://dx.doi.org/10.1159/000475805DOI Listing
April 2018
23 Reads
2.462 Impact Factor

Genomics of Cardiometabolic Disorders in Sub-Saharan Africa.

Public Health Genomics 2017 9;20(1):9-26. Epub 2017 May 9.

Department of Epidemiology and Public Health, University of Maryland School of Medicine, Baltimore, MD, USA.

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. Read More

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http://dx.doi.org/10.1159/000468535DOI Listing
January 2018
10 Reads

Precision Genetic and Genomic Medicine in the Middle East and North Africa Region: Are We There Yet?

Public Health Genomics 2017 6;20(3):149-157. Epub 2017 May 6.

American University of Beirut Faculty of Medicine, Beirut, Lebanon.

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.

Results: A total of 138 type 2 diabetes and 231 breast cancer publications were included. Read More

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http://dx.doi.org/10.1159/000473890DOI Listing
April 2018
3 Reads

Reimbursed Price of Orphan Drugs: Current Strategies and Potential Improvements.

Public Health Genomics 2017 31;20(1):1-8. Epub 2017 Mar 31.

Institute for Research on Population and Social Policies, URT Brindisi, National Research Council of Italy, Brindisi, Italy.

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. Read More

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http://dx.doi.org/10.1159/000464100DOI Listing
January 2018
14 Reads

Research Ethics 2.0: New Perspectives on Norms, Values, and Integrity in Genomic Research in Times of Even Scarcer Resources.

Public Health Genomics 2017 14;20(1):27-35. Epub 2017 Mar 14.

Department of International Health, School CAPHRI, Maastricht University, Maastricht, The Netherlands.

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. Read More

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http://dx.doi.org/10.1159/000462960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516405PMC
January 2018
6 Reads

Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results.

Public Health Genomics 2017 10;20(1):36-45. Epub 2017 Jan 10.

Department of Health Behavior & Health Education, University of Michigan School of Public Health, Ann Arbor, MI, USA.

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%). Read More

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http://dx.doi.org/10.1159/000455006DOI Listing
January 2018
7 Reads

Personalised Medicine: A New Approach to Improving Health in Indigenous Australian Populations.

Public Health Genomics 2017 6;20(1):58-62. Epub 2017 Jan 6.

Gomeroi gaaynggal Centre, Faculty of Health and Medicine, University of Newcastle, Tamworth, NSW, Australia.

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. Read More

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http://dx.doi.org/10.1159/000455005DOI Listing
January 2018
2 Reads

Erratum.

Authors:

Public Health Genomics 2017 17;20(5):306. Epub 2018 Apr 17.

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http://dx.doi.org/10.1159/000488186DOI Listing
April 2018
1 Read

Erratum.

Authors:

Public Health Genomics 2017 4;20(5):307. Epub 2018 Jan 4.

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http://dx.doi.org/10.1159/000486251DOI Listing
January 2018
1 Read

Community Perceptions of Biobanking Participation: A Qualitative Study among Mexican-Americans in Three Texas Cities.

Public Health Genomics 2017 8;20(1):46-57. Epub 2016 Dec 8.

School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.

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. Read More

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http://dx.doi.org/10.1159/000452093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5453816PMC
January 2018
25 Reads

The Rise and Rise of Exome Sequencing.

Public Health Genomics 2016 30;19(6):315-324. Epub 2016 Nov 30.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

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. Read More

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http://dx.doi.org/10.1159/000450991DOI Listing
September 2017
10 Reads

Participation in Genetic Research: Amazon's Mechanical Turk Workforce in the United States and India.

Public Health Genomics 2016 4;19(6):325-335. Epub 2016 Nov 4.

University of Rochester, Rochester, NY, USA.

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. Read More

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http://dx.doi.org/10.1159/000452094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214551PMC
September 2017
9 Reads