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Marta Gwinn

Publications and source records attributed to Marta Gwinn.

At least 19 recordsLinked to original sources
PubMed2006

Genomics and public health at CDC.

Genomics is the study of the entire genome, including all genes and their interactions with each other and with the environment. The scope of public health genomics is even broader, encompassing genetic variation in populations, both human and microbial. Molecular typing of pathogens--a mainstay of infectious disease surveillance, prevention, and control--already is used to trace epidemics, provide information for vaccine development, and monitor drug resistance. Now genomic research is producing powerful new tools for public health; for example, a newly described, microchip-based method promises to diagnose influenza infection, distinguish among viruses of human or animal origin, and detect mutations that suggest increasing virulence--all in a matter of hours.

Centers for Disease Control and Prevention, U.S.↗
PubMed2006

On the synthesis and interpretation of consistent but weak gene-disease associations in the era of genome-wide association studies.

Emerging technologies are allowing researchers to study hundreds of thousands of genetic variants simultaneously as risk factors for common complex diseases. Both theoretical considerations and empirical evidence suggest that specific genetic variants causally associated with common diseases will have small effects (risk ratios mostly <2.0). However, the combination of even a few small effects (e.g. effects of fewer than 20 common genetic variants) could account for a sizeable population attributable fraction of common diseases and shed important light on disease pathogenesis and environmental determinants. Nevertheless, the inauguration of genome-wide association studies only magnifies the challenge of differentiating between the expected, true weak associations from the numerous spurious effects caused by misclassification, confounding and significance-chasing biases. Standards are urgently needed for presenting and interpreting cumulative evidence on gene-disease associations, especially for consistent but weak associations. Criteria for synthesis of the evidence should include sound methods for study conduct and analysis, biological plausibility, experimental evidence and adequate replication in large-scale, collaborative studies. Efforts by the Human Genome Epidemiology Network (HuGENet) are currently ongoing to streamline and operationalize these criteria for data on genetic associations with common diseases.

Cohort Studies↗
PubMed2006

Tracking the epidemiology of human genes in the literature: the HuGE Published Literature database.

Completion of the human genome sequence has inspired a new wave of epidemiologic studies on the prevalence of gene variants and their associations with diseases in human populations. In 2001, the Human Genome Epidemiology (HuGE) Network launched the HuGE Published Literature database (HuGE Pub Lit), a searchable, online knowledge base of published, population-based epidemiologic studies of human genes. The database contains links to PubMed articles and can be searched by gene, disease, interacting factor, type of study design or analysis, or any combination of terms in these categories. The search output contains a link to each identified article, along with a table summarizing key features of the reported study. As of September 6, 2005, some 17,665 articles were indexed in the database. Most described gene-disease associations (86%); fewer evaluated gene-gene or gene-environment interactions (17%), the prevalence of gene variants (10%), or genetic tests (3%). Although not comprehensive, this database is a unique tool for epidemiologic researchers and others concerned with the role of genetic variation in population health. Here, the authors provide an overview of the database and its characteristics and uses.

Centers for Disease Control and Prevention, U.S.↗
PubMed2006

A road map for efficient and reliable human genome epidemiology.

Networks of investigators have begun sharing best practices, tools and methods for analysis of associations between genetic variation and common diseases. A Network of Investigator Networks has been set up to drive the process, sponsored by the Human Genome Epidemiology Network. A workshop is planned to develop consensus guidelines for reporting results of genetic association studies. Published literature databases will be integrated, and unpublished data, including 'negative' studies, will be captured by online journals and through investigator networks. Systematic reviews will be expanded to include more meta-analyses of individual-level data and prospective meta-analyses. Field synopses will offer regularly updated overviews.

Databases, Factual↗
PubMed2006

Genomics and public health in the United States: signposts on the translation highway.

Successful completion of the Human Genome Project has raised public expectations that research findings will translate quickly into health benefits; however, the gap between biomedical research and clinical and public health application seems wider than ever. Public health scientists now have the opportunity to help create a broad concept of research translation that integrates genomic information into policies, programs and services benefiting the whole population. Important 'signposts' along the translation highway include conducting population-based research in genomics, developing evidence on the clinical and public health value of genomic information, and integrating genomics into health practice.

Biomedical Research↗
PubMed2005

Do we need genomic research for the prevention of common diseases with environmental causes?

Concerns have been raised about the value of genomic research for prevention and public health, especially for complex diseases with risk factors that are amenable to environmental modification. Given that gene-environment interactions underlie almost all human diseases, the public health significance of genomic research on common diseases with modifiable environmental risks is based not necessarily on finding new genetic "causes" but on improving existing approaches to identifying and modifying environmental risk factors to better prevent and treat disease. Such applied genomic research for environmentally caused diseases is important, because 1) it could help stratify disease risks and differentiate interventions for achieving population health benefits; 2) it could help identify new environmental risk factors for disease or help confirm suspected environmental risk factors; and 3) it could aid our understanding of disease occurrence in terms of transmission, natural history, severity, etiologic heterogeneity, and targets for intervention at the population level. While genomics is still in its infancy, opportunities exist for developing, testing, and applying the tools of genomics to clinical and public health research, especially for conditions with known or suspected environmental causes. This research is likely to lead to population-wide health promotion and disease prevention efforts, not only to interventions targeted according to genetic susceptibility.

Environmental Illness↗
PubMed2005

The epidemiologic approach to pharmacogenomics.

The epidemiologic approach enables the systematic evaluation of potential improvements in the safety and efficacy of drug treatment which might result from targeting treatment on the basis of genomic information. The main epidemiologic designs are the randomized control trial, the cohort study, and the case-control study, and derivatives of these proposed for investigating gene-environment interactions. However, no one design is ideal for every situation, and methodological issues, notably selection bias, information bias, confounding and chance, all play a part in determining which study design is best for a given situation. There is also a need to employ a range of different designs to establish a portfolio of evidence about specific gene-drug interactions. In view of the complexity of gene-drug interactions, pooling of data across studies is likely to be needed in order to have adequate statistical power to test hypotheses. We suggest that there may be opportunities (i) to exploit samples from trials already completed to investigate possible gene-drug interactions; (ii) to consider the use of the case-only design nested within randomized controlled trials as a possible means of reducing genotyping costs when dichotomous outcomes are being investigated; and (iii) to make use of population-based disease registries that can be linked with tissue samples, treatment information and death records, to investigate gene-treatment interactions in survival.

Drug Interactions↗
PubMed2003

Family history assessment: strategies for prevention of cardiovascular disease.

Family history assessment can be used to combine population-wide health promotion and risk-reduction efforts with a high-risk, targeted approach to help reduce the burden of cardiovascular disease (CVD). Family history is an independent predictor of CVD, and the upper portion of the family history distribution explains a larger fraction of CVD in the population than can be explained by extreme values of other risk factors (e.g., blood pressure and cholesterol). A positive family history of disease captures the underlying complexities of gene-gene and gene-environment interactions by identifying families with combinations of risk factors, both measured and unmeasured, that lead to disease expression. Family history is a useful tool for identifying most prevalent cases of CVD and for population-wide disease-prevention efforts. A positive family history also identifies the relatively small subset of families in the population at highest risk for CVD who may benefit most from targeted screening and intensive intervention.

Cardiovascular Diseases↗
PubMed2003

Public knowledge regarding the role of genetic susceptibility to environmentally induced health conditions.

OBJECTIVE: Diseases thought to be caused by exposure to environmental factors are also influenced by genetic susceptibility. It is not clear to what extent the public recognizes the role of genetics in causing these diseases. METHODS: We asked 2,353 people in a national survey to indicate their level of agreement with statements about the genetic contribution to four health conditions typically considered to be environmentally induced. RESULTS: 206 (9%) respondents believed that genetic susceptibility contributes to all four health conditions, while 751 (32%) believed that genetics plays no role in causing any of the conditions. Respondents were more likely to believe that genetics contributes to adverse drug reactions and smoking-related illnesses than to infectious diseases and diseases resulting from exposure to environmental agents. CONCLUSIONS: This study suggests that the public views genetic susceptibility as playing only a limited role in human disease induced by environmental factors. Increasing awareness of the role of genetic factors in these diseases will be necessary for translating gene discovery into effective personal and public health actions.

Adult↗
PubMed2002

Genetic test evaluation: information needs of clinicians, policy makers, and the public.

Growing knowledge about gene-disease associations will lead to new opportunities for genetic testing. Many experts predict that genetic testing will become increasingly important as a guide to prevention, clinical management, and drug treatment based on genetic susceptibilities. As part of a Human Genetic Epidemiology workshop convened by the Centers for Disease Control and Prevention, a group of experts evaluated the evidence needed when considering the appropriate use of new genetic tests. Because new tests are likely to vary in their predictive value, their potential to direct prevention or treatment efforts, and their personal and social consequences, the task of determining appropriate use will require careful consideration of a variety of factors, including the analytic validity, clinical validity, clinical utility, and ethical, legal, and social implications of the test. Standardized formats are needed to summarize what is known and not known about new genetic tests with respect to each of these features. Following criteria for the objective assessment of test properties, reports should be structured to enable policy makers, clinicians, and the public to identify the available evidence, so that uncertainties can be taken into account when considering test use and planning future research.

Decision Making↗