Public and Population Health Genomics
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ABSTRACT:
SUBMITTER: Wise A
PROVIDER: S-EPMC7149728 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
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Project description:We examine how a public health genomics framework can be used to move genomic discoveries into clinical and public health practice for obesity prevention and treatment. There are four phases of translational research: T1: discovery to candidate health application; T2: health application to evidence-based practice guidelines; T3: practice guidelines to health practice; and T4: practice to population health impact. Types of multidisciplinary research and knowledge synthesis needed for each phase, as well as the importance of developing and disseminating evidence-based guidelines, are discussed. Because obesity genomics research is mostly in the discovery phase or in the very early phases of translation (T1), the authors present this framework to illustrate the range of translation activities needed to move genomic discoveries in obesity to actual applications that reduce the burden of obesity at the population level.
| S-EPMC2736102 | biostudies-literature
Project description:Racial and ethnic differences in drug responses are now well studied and documented. Pharmacogenomics research seeks to unravel the genetic underpinnings of inter-individual variability with the aim of tailored-made theranostics and therapeutics. Taking into account the differential expression of pharmacogenes coding for key metabolic enzymes and transporters that affect drug pharmacokinetics and pharmacodynamics, we advise that data interpretation and analysis need to occur in light of geographical ancestry, if implications for drug development and global health are to be considered. Herein, we exploit ePGA, a web-based electronic Pharmacogenomics Assistant and publicly available genetic data from the 1000 Genomes Project to explore genotype to phenotype associations among the 1000 Genomes Project populations.
| S-EPMC5542428 | biostudies-literature
Project description:Whole genome analysis based on next generation sequencing (NGS) now represents an affordable framework in public health systems. Robust analytical pipelines of genomic data provides in short laps of time (hours) information about taxonomy, comparative genomics (pan-genome) and single polymorphisms profiles. Pathogenic organisms of interest can be tracked at the genomic level, allowing monitoring at one-time several variables including: epidemiology, pathogenicity, resistance to antibiotics, virulence, persistence factors, mobile elements and adaptation features. Such information can be obtained not only at large spectra, but also at the "local" level, such as in the event of a recurrent or emergency outbreak. This paper reviews the state of the art in infection diagnostics in the context of modern NGS methodologies. We describe how actuation protocols in a public health environment will benefit from a "streaming approach" (pipeline). Such pipeline would NGS data quality assessment, data mining for comparative analysis, searching differential genetic features, such as virulence, resistance persistence factors and mutation profiles (SNPs and InDels) and formatted "comprehensible" results. Such analytical protocols will enable a quick response to the needs of locally circumscribed outbreaks, providing information on the causes of resistance and genetic tracking elements for rapid detection, and monitoring actuations for present and future occurrences.
| S-EPMC4235738 | biostudies-literature
Project description:BackgroundPublic health genomics is an emerging multidisciplinary approach, which aims to integrate genome-based knowledge in a responsible and effective way into public health. Despite several surveys performed to evaluate knowledge, attitudes and professional behaviors of physicians towards predictive genetic testing, similar surveys have not been carried out for public health practitioners. This study is the first to assess knowledge, attitudes and training needs of public health professionals in the field of predictive genetic testing for chronic diseases.MethodsA self-administered questionnaire was used to carry out a cross-sectional survey of a random sample of Italian public health professionals.ResultsA response rate of 67.4% (797 questionnaires) was achieved. Italian public health professionals have the necessary attitudinal background to contribute to the proper use of predictive genetic testing for chronic diseases, but they need additional training to increase their methodological knowledge. Knowledge significantly increases with exposure to predictive genetic testing during postgraduate training (odds ratio (OR) = 1.74, 95% confidence interval (CI) = 1.05-2.88), time dedicated to continuing medical education (OR = 1.53, 95% CI = 1.14-2.04) and level of English language knowledge (OR = 1.36, 95% CI = 1.07-1.72). Adequate knowledge is the strongest predictor of positive attitudes from a public health perspective (OR = 3.98, 95% CI = 2.44-6.50). Physicians show a lower level of knowledge and more public health attitudes than other public health professionals do. About 80% of public health professionals considered their knowledge inadequate and 86.0% believed that it should be improved through specific postgraduate training courses.ConclusionsSpecific and targeted training initiatives are needed to develop a skilled public health workforce competent in identifying genomic technology that is ready for use in population health and in modeling public health genomic programs and primary care services that need to be developed, implemented and evaluated.
| S-EPMC4064825 | biostudies-literature
Project description:BackgroundFor public health policies to be effective, it is critical that they are acceptable to the public as acceptance levels impact success rate.ObjectiveTo explore public acceptance of public health statements and examine differences in acceptability across socio-demographics, health behaviours (physical activity, diet, binge drinking and smoking), health status and well-being.MethodA cross-sectional survey was conducted with a nationally representative sample (N = 1001) using a random stratified sampling method. Face-to-face interviews were conducted at homes of residents in Wales aged 16+ years. Individuals reported whether they agreed, had no opinion, or disagreed with 12 public health statements.ResultsMore than half of the sample were supportive of 10 out of 12 statements. The three statements with the greatest support (>80% agreement) reflected the importance of: a safe and loving childhood to becoming a healthy adult, schools teaching about health, and healthier foods costing less. Individuals who engaged in unhealthy behaviours were less likely to agree with some of the statements (eg 39.8% of binge drinkers agreed alcohol adverts should be banned compared to 57.6% of those who never binge drink; P < .001).ConclusionsFindings show an appetite for public health policies among the majority of the public. The relationship between supporting policies and engaging in healthy behaviours suggests a feedback loop that is potentially capable of shifting both public opinion and the opportunities for policy intervention. If a nation becomes healthier, this could illicit greater support for stronger policies which could encourage more people to move in a healthier direction.
| S-EPMC7495082 | biostudies-literature
Project description:This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (NBS) from the perspectives of State program officials. This project aims to help programs develop policies that will aid in the integration of genomic technology. Discussion groups were conducted with the NBS Program and Laboratory Directors in the seven HRSA Regional Genomics Collaboratives (August 2014–March 2016). The discussion groups addressed expected uses of genomics, potential benefits, and challenges of integrating genomic technology, and educational needs for parents and other NBS stakeholders: Twelve focus groups were conducted, which included participants from over 40 state programs. Benefits of incorporating genomics included improving screening modalities, supporting diagnostic procedures, and screening for a wider spectrum of disorders. Challenges included the costs of genomics, the ability to educate parents and health care providers about results, and the potential negative psychosocial impact of genomic information. Attempts to address the challenges of integrating genomics must focus on preserving the child welfare goals of NBS programs. Health departments will need to explore how genomics could be used to enhance programs while maintaining universal access to screening.
| S-EPMC8883997 | biostudies-literature
Project description:BackgroundAlong with rapid diagnostic testing, contact tracing, and public health measures, an effective pandemic response incorporates genomics-based surveillance. Large-scale SARS-CoV-2 genome sequencing is a crucial component of the global response to COVID-19. Characterizing the state of genomics readiness among Canada's public health laboratories was necessary to inform strategic planning and deployment of capacity-building resources in the early stages of the pandemic.MethodsWe used a qualitative study design and focus group discussions, encompassing both technical and leadership perspectives, to perform an in-depth evaluation of the state of pathogen genomics readiness in Canada.ResultsWe found substantial diversity in the state of readiness for SARS-CoV-2 genomic surveillance across Canada. Despite this variability, we identified common barriers and needs in the areas of specimen access, data flow and sharing, computing infrastructure, and access to highly qualified bioinformatics personnel.ConclusionsThese findings enable the strategic prioritization and deployment of resources to increase Canada's ability to perform effective public health genomic surveillance for COVID-19 and prepare for future emerging infectious diseases. They also provide a unique qualitative research model for use in capacity building.
| S-EPMC9508744 | biostudies-literature
Project description:Population genomic of Rhynchosporium commune
| PRJEB14608 | ENA
Project description:SARS CoV-2 WGS (Georgia Department of Public Health)
| PRJNA713775 | ENA
Project description:In this article, we examine professional discourse around the development of polygenic risk-stratified screening (PRSS) for cancer. Analyzing a range of contemporary professional literatures from Europe, North America and Australia, we explore how the drive to screen for molecular markers of cancer risk makes professionals, screening recipients and publics responsible, in different ways, for acquiring, curating and analyzing molecular data. Investigating how these responsibilities are invoked in discussions of new data practices, technologies, organizational arrangements, engagement, education and protocols for participation, we argue that agendas for PRSS for cancer are both expanding and stratifying responsibilities. Data collection is to be achieved by intensified responsibilities for including, reassuring and recruiting populations, as well as by opening and enriching the datasets on which models and preventative screening arrangements are based. Enhanced responsibilities for screening recipients and publics are also invoked, not just in relation to personal health but for population health more generally, via research participation and consenting to data re-use in the public interest. Professionals, screening recipients and publics are also to become responsible for moderating expectations of screening according to genomic designations. Together these discourses go beyond individual risk management to extend and diversify the responsibilities of practitioners, screening recipients and publics as public health genomics develops.
| S-EPMC6688132 | biostudies-literature