1-CMDb: A Curated Database of Genomic Variations of the One-Carbon Metabolism Pathway
Conclusion: A comprehensive database was generated consisting of genomic elements within and among SNPs, CNVs, CpGs, and miRNAs of one-carbon metabolism pathways to facilitate (a) single source of information and (b) integration into large-genome scale network analysis to be developed in the future by the scientific community. The database can be accessed at http://slsdb.manipal.edu/ocm/.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - May 16, 2017 Category: Genetics & Stem Cells Source Type: research
Precision Genetic and Genomic Medicine in the Middle East and North Africa Region: Are We There Yet
Conclusion: This study suggests that the translational value of genetic and genomic research in the MENA region is currently suboptimal. Moving forward requires international cooperation and a collaborative cohort program in order to implement precision medicine in this area of the world.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - May 9, 2017 Category: Genetics & Stem Cells Source Type: research
Genomics of Cardiometabolic Disorders in Sub-Saharan Africa
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...
Source: Public Health Genomics - May 9, 2017 Category: Genetics & Stem Cells Source Type: research
Precision Genetic and Genomic Medicine in the Middle East and North Africa Region: Are We There Yet?
Conclusion: This study suggests that the translational value of genetic and genomic research in the MENA region is currently suboptimal. Moving forward requires international cooperation and a collaborative cohort program in order to implement precision medicine in this area of the world.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - May 5, 2017 Category: Genetics & Stem Cells Source Type: research
Reimbursed Price of Orphan Drugs: Current Strategies and Potential Improvements
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. Current strategies and suggestions are presented along 4 dimensions: (1) comprehensive value assessmen...
Source: Public Health Genomics - March 30, 2017 Category: Genetics & Stem Cells Source Type: research
Research Ethics 2.0: New Perspectives on Norms, Values, and Integrity in Genomic Research in Times of Even Scarcer Resources
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 1.0 focuses on individual integrity and informed consent, research ethics 2.0 entails social scientifi...
Source: Public Health Genomics - March 14, 2017 Category: Genetics & Stem Cells Source Type: research
Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results
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%). Among disease risks, heart disease (68% very interested), breast cancer (67%), and Alzheimer disease (66%) were of greatest interest prior to ...
Source: Public Health Genomics - January 9, 2017 Category: Genetics & Stem Cells Source Type: research
Personalised Medicine: A New Approach to Improving Health in Indigenous Australian Populations
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. This short review highlights the urgent need for more genetic studies specific to Indigenous ...
Source: Public Health Genomics - January 5, 2017 Category: Genetics & Stem Cells Source Type: research
Contents Vol. 19, 2016
Public Health Genomics 2016;19:I-IV (Source: Public Health Genomics)
Source: Public Health Genomics - January 3, 2017 Category: Genetics & Stem Cells Source Type: research
Community Perceptions of Biobanking Participation: A Qualitative Study among Mexican-Americans in Three Texas Cities
Conclusion: Results from this study can inform educational materials or interventions to increase Hispanic participation in biobanking.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - December 7, 2016 Category: Genetics & Stem Cells Source Type: research
The Rise and Rise of Exome Sequencing
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. In addition to heritable germline and de novo mutations, exome sequencing has also succeed...
Source: Public Health Genomics - November 30, 2016 Category: Genetics & Stem Cells Source Type: research
Participation in Genetic Research: Amazon's Mechanical Turk Workforce in the United States and India
Conclusions: Concurrence of beliefs on benefits and concerns about genetic research suggest they may be common across countries. Consideration of commonalities may be important to increase global participation in genetic research.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - November 3, 2016 Category: Genetics & Stem Cells Source Type: research
Validation of an Efficient Screening Tool to Identify Low-Income Women at High Risk for Hereditary Breast Cancer
Conclusion: The 6-Point Scale compared favorably with the RST, a validated instrument, and is potentially useful as a simple tool for administration in a safety net setting, requiring minimal time investment by primary care physicians and their staff and no financial investment in tablet computers or software.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - October 27, 2016 Category: Genetics & Stem Cells Source Type: research
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
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 ( (Source: Public Health Genomics)
Source: Public Health Genomics - October 12, 2016 Category: Genetics & Stem Cells Source Type: research
Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy
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, budgeta...
Source: Public Health Genomics - September 27, 2016 Category: Genetics & Stem Cells Source Type: research
