The human genome project is complete. How do we develop a handle for the pump?
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Genetic Diseases, Inborn↗
Biomedical subjects
Mindy Clyne
Publications and source records attributed to Mindy Clyne.
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↗
Reporting, appraising, and integrating data on genotype prevalence and gene-disease associations.
The recent completion of the first draft of the human genome sequence and advances in technologies for genomic analysis are generating tremendous opportunities for epidemiologic studies to evaluate the role of genetic variants in human disease. Many methodological issues apply to the investigation of variation in the frequency of allelic variants of human genes, of the possibility that these influence disease risk, and of assessment of the magnitude of the associated risk. Based on a Human Genome Epidemiology workshop, a checklist for reporting and appraising studies of genotype prevalence and studies of gene-disease associations was developed. This focuses on selection of study subjects, analytic validity of genotyping, population stratification, and statistical issues. Use of the checklist should facilitate the integration of evidence from these studies. The relation between the checklist and grading schemes that have been proposed for the evaluation of observational studies is discussed. Although the limitations of grading schemes are recognized, a robust approach is proposed. Other issues in the synthesis of evidence that are particularly relevant to studies of genotype prevalence and gene-disease association are discussed, notably identification of studies, publication bias, criteria for causal inference, and the appropriateness of quantitative synthesis.
Case-Control Studies↗