Research Topics
Genomes and GenesSpecies | M J KhourySummaryAffiliation: Centers for Disease Control and Prevention Country: USA Publications
| Collaborators
|
Detail Information
Publications
Dealing with the evidence dilemma in genomics and personalized medicineM J Khoury
National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Clin Pharmacol Ther 87:635-8. 2010....
Knowledge integration at the center of genomic medicineMuin J Khoury
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA, USA
Genet Med 14:643-7. 2012..The ultrarapid production of information requires adequate public and private resources for knowledge integration to support the evidence-based development of genomic medicine...
Frontiers in cancer epidemiology: a challenge to the research community from the Epidemiology and Genomics Research Program at the National Cancer InstituteMuin J Khoury
Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA
Cancer Epidemiol Biomarkers Prev 21:999-1001. 2012..grants.cancer.gov/ to develop priorities and the next generation of high-impact studies...
A population approach to precision medicineMuin J Khoury
Office of Public Health Genomics, CDC, Atlanta, GA 30333, USA
Am J Prev Med 42:639-45. 2012..Balanced strategies that implement both population- and individual-level interventions can best maximize health benefits, minimize harm, and avoid unnecessary healthcare costs...
Multilevel research and the challenges of implementing genomic medicineMuin J Khoury
Office of Public Health Genomics, Centers for Disease Control and Prevention, 1600 Clifton Rd, Mailstop E61, Atlanta, GA 30333, USA
J Natl Cancer Inst Monogr 2012:112-20. 2012..We synthesize existing information in a framework for future multilevel research for integrating genomic medicine into the cancer care continuum...
Beyond base pairs to bedside: a population perspective on how genomics can improve healthMuin J Khoury
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Am J Public Health 102:34-7. 2012....
Predictive genetic testing for the identification of high-risk groups: a simulation study on the impact of predictive abilityRaluca Mihaescu
Department of Epidemiology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
Genome Med 3:51. 2011..We investigated the performance of this risk stratification strategy by examining epidemiological parameters that impact the predictive ability of risk models...
Assessing causal relationships in genomics: From Bradford-Hill criteria to complex gene-environment interactions and directed acyclic graphsSara Geneletti
Department of Statistics, London School of Economics, Houghton Street, London, UK
Emerg Themes Epidemiol 8:5. 2011..e., research that integrates knowledge, data, methods, techniques, and reasoning from multiple disciplines, approaches and levels of analysis to generate knowledge that no discipline alone may achieve...
Commentary: epidemiology and the continuum from genetic research to genetic testingMuin J Khoury
Office of Genomics and Disease Prevention, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Am J Epidemiol 156:297-9. 2002
The evidence dilemma in genomic medicineMuin J Khoury
Centers for Disease Control and Prevention CDC, in Atlanta, Georgia, USA
Health Aff (Millwood) 27:1600-11. 2008..There is an urgent need for a collaborative process for appropriate transition of genomic discoveries from research to practice...
Population sciences, translational research, and the opportunities and challenges for genomics to reduce the burden of cancer in the 21st centuryMuin J Khoury
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
Cancer Epidemiol Biomarkers Prev 20:2105-14. 2011..An enhanced translational genomics and population sciences agenda is urgently needed to fulfill the promise of genomics in reducing the burden of cancer...
Current priorities for public health practice in addressing the role of human genomics in improving population healthMuin J Khoury
Office of Public Health Genomics, CDC, Atlanta, Georgia 30333, USA
Am J Prev Med 40:486-93. 2011..Such efforts are needed not only to implement what is known in genomics to improve health but also to reduce potential harm and create the infrastructure needed to derive health benefits in the future...
Will genomics widen or help heal the schism between medicine and public health?Muin J Khoury
National Office of Public Health Genomics, Centers for Disease Control and Prevention, 4770 Buford Highway NE, Atlanta, GA 30341, USA
Am J Prev Med 33:310-7. 2007..A strong medicine-public health partnership in the genomics era is needed for the translation of all scientific discoveries for the benefit of population health...
Do we need genomic research for the prevention of common diseases with environmental causes?Muin J Khoury
Office of Genomics and Disease Prevention, Coordinating Center on Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Am J Epidemiol 161:799-805. 2005..This research is likely to lead to population-wide health promotion and disease prevention efforts, not only to interventions targeted according to genetic susceptibility...
The emergence of translational epidemiology: from scientific discovery to population health impactMuin J Khoury
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
Am J Epidemiol 172:517-24. 2010..02). Epidemiology is increasingly recognized as an important component of TR. By quantifying and integrating knowledge across disciplines, epidemiology provides crucial methods and tools for TR...
Invited commentary: from genome-wide association studies to gene-environment-wide interaction studies--challenges and opportunitiesMuin J Khoury
National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Am J Epidemiol 169:227-30; discussion 234-5. 2009....
Genetic epidemiology with a capital E, ten years afterMuin J Khoury
Office of Public Health Genomics, Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta GA 30333, USA
Genet Epidemiol 35:845-52. 2011..We extend Duncan Thomas' capital E to include "Evaluation" as the tools of epidemiology are increasingly used to assess how genome-based information can be applied in medicine and public health...
The return of thalidomide: are birth defects surveillance systems ready?Q Yang
Division of Birth Defects and Developmental Disabilities, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Am J Med Genet 73:251-8. 1997..Our findings highlight the importance of enlarging the monitored population and correct case classification in birth defects surveillance...
Required sample size and nonreplicability thresholds for heterogeneous genetic associationsRamal Moonesinghe
National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Proc Natl Acad Sci U S A 105:617-22. 2008..Therefore, some true associations may not be practically possible to replicate with consistency, no matter how large studies are conducted. Efforts should be made to minimize between-study heterogeneity in targeted genetic effects...
Population-based study of congenital heart defects in Down syndromeS B Freeman
Department of Genetics, Emory University, Atlanta, Georgia 30322, USA
Am J Med Genet 80:213-7. 1998..This report is unique in that it contains the largest number of trisomy 21 infants ascertained in a population-based study where modern techniques for diagnosing cardiac abnormalities predominate...
An epidemiologic assessment of genomic profiling for measuring susceptibility to common diseases and targeting interventionsMuin J Khoury
Office of Genomics and Disease Prevention, Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Genet Med 6:38-47. 2004..CONCLUSION: To assess the value of genomic profiling, well-designed epidemiologic studies are needed to quantify disease risks, in addition to costs, benefits, and risks for testing and interventions...
Tracking the epidemiology of human genes in the literature: the HuGE Published Literature databaseBruce K Lin
Office of Genomics and Disease Prevention, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Am J Epidemiol 164:1-4. 2006..Here, the authors provide an overview of the database and its characteristics and uses...
Implications of Internet availability of genomic information for public health practiceB W Hesse
National Cancer Institute, National Institutes of Health, 6130 Executive Boulevard, Bethesda, MD 20892 7365, USA
Public Health Genomics 15:201-8. 2012....
Commentary: facing the challenge of gene-environment interaction: the two-by-four table and beyondL D Botto
Birth Defects and Genetic Diseases Branch, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Am J Epidemiol 153:1016-20. 2001..To highlight the role of gene-environment interaction in disease causation, the authors propose that the two-by-four table is the fundamental unit of epidemiologic analysis...
Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control studyQ Yang
Division of Birth Defects and Developmental Disabilities and the Office of Genetics and Disease Prevention, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Genet Med 1:80-8. 1999..This is the first epidemiological study to categorize cases of trisomy 21 by parent of origin and timing of the meiotic error before assessing possible risk factors...
Trends in pharmacogenomic epidemiology: 2001-2007I Guessous
Department of Epidemiology, National Office of Public Health Genomics, Centers for Disease Control and Prevention, Rollins School of Public Health, Emory University, Atlanta, GA, USA
Public Health Genomics 12:142-8. 2009..Pharmacogenomic epidemiology (PGxE) assesses the range of responses to pharmacologic agents in relation to genetic variation in population groups. We analyzed publication trends to describe the emerging field of PGxE...
Phenopedia and Genopedia: disease-centered and gene-centered views of the evolving knowledge of human genetic associationsW Yu
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA 30345, USA
Bioinformatics 26:145-6. 2010..AVAILABILITY: Phenopedia and Genopedia can be freely accessed at http://www.hugenavigator.net/HuGENavigator/startPagePhenoPedia.do and http://www.hugenavigator.net/HuGENavigator/startPagePedia.do, respectively...
Iron overload, public health, and genetics: evaluating the evidence for hemochromatosis screeningM E Cogswell
Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Ann Intern Med 129:971-9. 1998....
Vitamin A and cardiac outflow tract defectsL D Botto
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Highway NE, Atlanta, GA 30341, USA
Epidemiology 12:491-6. 2001..8; 95% confidence interval = 0.1-6.6). Similar intakes of carotenoids and dietary retinol were not associated with an increased risk for either type of outflow tract defect...
Informed consent for population-based research involving geneticsL M Beskow
Office of Genetics and Disease Prevention, Centers for Disease Control and Prevention, 4770 Buford Hwy NE, MS K 28, Atlanta, GA 30341 3724, USA
JAMA 286:2315-21. 2001....
Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United StatesK K Steinberg
Molecular Biology Branch, National Center for Environmental Health, Mailstop F 24, Chamblee, GA 30341, USA
JAMA 285:2216-22. 2001..Population-based estimates of the prevalence of disease-associated mutations, such as hemochromatosis (HFE) gene mutations, are needed to determine the usefulness of genetic screening...
The emergence of biobanks: practical design considerations for large population-based studies of gene-environment interactionsRobert L Davis
Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Community Genet 10:181-5. 2007....
Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseasesMuin J Khoury
Office of Public Health Genomics, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Am J Epidemiol 170:269-79. 2009..As a next step in the evolution of Human Genome Epidemiology reviews, the authors invite investigators to submit field synopses for possible publication in the American Journal of Epidemiology...
Most published research findings are false-but a little replication goes a long wayRamal Moonesinghe
National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America
PLoS Med 4:e28. 2007
Racial/ethnic differences in association of fasting glucose-associated genomic loci with fasting glucose, HOMA-B, and impaired fasting glucose in the U.S. adult populationQuanhe Yang
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Diabetes Care 33:2370-7. 2010....
Evaluation of family history as a risk factor and screening tool for detecting undiagnosed diabetes in a nationally representative survey populationSusan Hariri
Office of Workforce and Career Development, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Genet Med 8:752-9. 2006..CONCLUSIONS: There was a strong and proportional association between familial risk and undiagnosed diabetes, suggesting that a three-tiered assessment of familial diabetes risk may increase the effectiveness of diabetes screening...
The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshopMuin J Khoury
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
Genet Med 11:559-67. 2009..To fulfill the promise of personal genomics, a rigorous multidisciplinary research agenda is needed...
Systems-based candidate genes for human response to influenza infectionLyna Zhang
Office of Public Health Genomics, National Center for Immunization and Respiratory Diseases, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Infect Genet Evol 9:1148-57. 2009....
Developing Family Healthware, a family history screening tool to prevent common chronic diseasesPaula W Yoon
Centers for Disease Control and Prevention, 4770 Buford Hwy, NE, Mailstop K47, Atlanta, GA 30341, USA
Prev Chronic Dis 6:A33. 2009....
Invited commentary: genes, environment, and hybrid vigorMarta Gwinn
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Am J Epidemiol 170:703-7. 2009....
Comparative effectiveness research and genomic medicine: an evolving partnership for 21st century medicineMuin J Khoury
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 3033, USA
Genet Med 11:707-11. 2009..There is a need to heal the apparent schism between genomic medicine and comparative effectiveness research to enhance knowledge-driven practice of medicine in the 21st century...
Expanding the definition of a positive family history for early-onset coronary heart diseaseMaren T Scheuner
Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, GA, USA
Genet Med 8:491-501. 2006..CONCLUSIONS: Family history beyond early-onset CHD in first-degree relatives is significantly associated with prevalent CHD diagnosed at or before age 60 years...
An automatic method to generate domain-specific investigator networks using PubMed abstractsWei Yu
National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA, USA
BMC Med Inform Decis Mak 7:17. 2007..We present a novel strategy for building investigator networks dynamically and producing detailed investigator profiles using data available in PubMed abstracts...
Family history and prevalence of diabetes in the U.S. population: the 6-year results from the National Health and Nutrition Examination Survey (1999-2004)Rodolfo Valdez
National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, 4770 Buford Hwy, NE, Mailstop K 89, Atlanta, GA 30341, USA
Diabetes Care 30:2517-22. 2007..We sought to test the association between stratified levels of familial risk of diabetes and the prevalence of the disease in the U.S. population...
Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994Man Huei Chang
National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Am J Epidemiol 169:54-66. 2009..These nationally representative data on allele frequency and genotype prevalence provide a valuable resource for future epidemiologic studies in public health in the United States...
Reporting of human genome epidemiology (HuGE) association studies: an empirical assessmentAjay Yesupriya
National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, USA
BMC Med Res Methodol 8:31. 2008..Transparent reporting of study methods and results allows readers to better assess the validity of study findings. Here, we document reporting practices of human genome epidemiology studies...
GAPscreener: an automatic tool for screening human genetic association literature in PubMed using the support vector machine techniqueWei Yu
National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA, USA
BMC Bioinformatics 9:205. 2008..The GAPscreener, a free SVM-based software tool, can be used to assist in screening PubMed abstracts for human genetic association studies...
The need for genetic variant naming standards in published abstracts of human genetic association studiesWei Yu
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
BMC Res Notes 2:56. 2009..The consistent use of rs numbers in abstracts that report genetic associations would enhance knowledge synthesis and translation in this field...
Genome-wide association studies in pharmacogenomics: untapped potential for translationIdris Guessous
Emory University, Rollins School of Public Health Department of Epidemiology, Grace Crum Rollins Building, 1518 Clifton Road, Atlanta, Georgia 30322, USA
Genome Med 1:46. 2009....
The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?Muin J Khoury
National Office of Public Health Genomics Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Genet Med 9:665-74. 2007..With continued advances in genomic applications, however, the full continuum of translation research needs adequate support to realize the promise of genomics for human health...
An open source infrastructure for managing knowledge and finding potential collaborators in a domain-specific subset of PubMed, with an example from human genome epidemiologyWei Yu
National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA, USA
BMC Bioinformatics 8:436. 2007..The design of this infrastructure makes the system potentially extensible to other data sources...
Gene Prospector: an evidence gateway for evaluating potential susceptibility genes and interacting risk factors for human diseasesWei Yu
National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA, USA
BMC Bioinformatics 9:528. 2008..The application, called Gene Prospector, also provides a comprehensive set of links to additional data sources...
The association between family history of asthma and the prevalence of asthma among US adults: National Health and Nutrition Examination Survey, 1999-2004Tiebin Liu
Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Genet Med 11:323-8. 2009..To assess the overall prevalence of asthma and the association between family history of asthma and the prevalence of asthma among US adults...
The genomic applications in practice and prevention networkMuin J Khoury
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Genet Med 11:488-94. 2009....
Is family history a useful tool for detecting children at risk for diabetes and cardiovascular diseases? A public health perspectiveRodolfo Valdez
National Office of Public Health Genomics, Centers for Disease Control and Prevention, 4770 Buford Hwy, NE, Mail Stop K 89, Atlanta, GA 30341, USA
Pediatrics 120:S78-86. 2007....
Steroid 5-{alpha}-reductase Type 2 (SRD5a2) gene polymorphisms and risk of prostate cancer: a HuGE reviewJun Li
Division of Cancer Prevention and Control, Centers for Disease Control and Prevention, 4770 Buford Highway, MS K55, Atlanta, GA 30341, USA
Am J Epidemiol 171:1-13. 2010..Analysis of well-designed population-based studies with pathway-based arrays containing common genetic variants could be useful for identifying genetic factors in prostate cancer...
Evaluation of the validity and utility of genetic testing for rare diseasesScott D Grosse
Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Adv Exp Med Biol 686:115-31. 2010..Specific rare disorders addressed include cystic fibrosis, fragile X syndrome, Duchenne and Becker muscular dystrophy, spinal muscular atrophy, Huntington disease, as well as cancer associated with BRCA mutations...
From genetics to genomics: using gene-based medicine to prevent disease and promote health in childrenCynthia A Moore
Office of Genomics and Disease Prevention, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Semin Perinatol 29:135-43. 2005....
How many genes underlie the occurrence of common complex diseases in the population?Quanhe Yang
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention CDC, Atlanta, GA 30333, USA
Int J Epidemiol 34:1129-37. 2005..It is not clear how many genes are necessary to account for an appreciable population-attributable fraction of these diseases...
Research priorities for evaluating family history in the prevention of common chronic diseasesPaula W Yoon
Office of Genomics and Disease Prevention, National Center for Environmental Health, Centers for Disease Control and Prevention, 4770 Buford Highway, Atlanta, GA 39341-3724, USA
Am J Prev Med 24:128-35. 2003
The integration of genomics into paediatric and perinatal epidemiology: guidelines for submitting human genome epidemiology (HuGE) reviewsMuin J Khoury
Office of Genomics and Disease Prevention, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Paediatr Perinat Epidemiol 19:178-80. 2005
Improving the prediction of complex diseases by testing for multiple disease-susceptibility genesQuanhe Yang
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Am J Hum Genet 72:636-49. 2003..Multiplex genetic testing has the potential to improve the clinical validity of predictive testing for common multifactorial diseases...
Public knowledge regarding the role of genetic susceptibility to environmentally induced health conditionsJill Morris
Office of Genetics and Disease Prevention, National Center for Environmental Health, Centers for Disease Control and Prevention, 4770 Buford Highway NE, MS K 28, Atlanta, GA 30341 3724, USA
Community Genet 6:22-8. 2003..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...
The emergence of epidemiology in the genomics ageMuin J Khoury
Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
Int J Epidemiol 33:936-44. 2004
Genetics and genomics in practice: the continuum from genetic disease to genetic information in health and diseaseMuin J Khoury
Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, 1600 Clifton Rd, Mail stop E82, Atlanta, GA 30333, USA
Genet Med 5:261-8. 2003....
Improvements in ability to detect undiagnosed diabetes by using information on family history among adults in the United StatesQuanhe Yang
Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Am J Epidemiol 171:1079-89. 2010..Study findings suggest that adding family history of diabetes can provide significant improvements in detecting undiagnosed diabetes in the US population. Further research is needed to validate the authors' findings...
Application of support vector machine modeling for prediction of common diseases: the case of diabetes and pre-diabetesWei Yu
National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA, USA
BMC Med Inform Decis Mak 10:16. 2010..We illustrate the method to detect persons with diabetes and pre-diabetes in a cross-sectional representative sample of the U.S. population...
A Hardy-Weinberg equilibrium test for analyzing population genetic surveys with complex sample designsRamal Moonesinghe
Office of Minority Health and Health Disparities, 4770 Buford Highway, Mailstop E 67, Atlanta, GA 30341, USA
Am J Epidemiol 171:932-41. 2010....
Using lifetime risk estimates in personal genomic profiles: estimation of uncertaintyQuanhe Yang
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Am J Hum Genet 85:786-800. 2009..Epidemiologic parameters involved in computation of disease risk have substantial uncertainty, and cumulative uncertainty should be properly recognized. Reliance on point estimates alone could be seriously misleading...
Evaluation of the discriminative accuracy of genomic profiling in the prediction of common complex diseasesRamal Moonesinghe
Office of Minority Health and Health Disparities, Centers for Disease Control and Prevention, Mailstop E 67, 1600 Clifton Road, NE, Atlanta, GA 30333, USA
Eur J Hum Genet 18:485-9. 2010....
On the synthesis and interpretation of consistent but weak gene-disease associations in the era of genome-wide association studiesMuin J Khoury
National Office of Public Health Genomics, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Int J Epidemiol 36:439-45. 2007..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...
DNA banking for epidemiologic studies: a review of current practicesKaren Steinberg
Division of Environmental Health Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341 3724, USA
Epidemiology 13:246-54. 2002..Each of the specimens discussed is useful for epidemiologic studies according to specific needs, which we enumerate in our conclusions...
From public health emergency to public health service: the implications of evolving criteria for newborn screening panelsScott D Grosse
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Pediatrics 117:923-9. 2006
Family history in public health practice: a genomic tool for disease prevention and health promotionRodolfo Valdez
Office of Public Health Genomics, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
Annu Rev Public Health 31:69-87 1 p following 87. 2010..Their goal is to create family history tools that have decision support capabilities and are compatible with electronic health records. These advances will help realize the potential of family history as a public health tool...
Genomics and public health in the United States: signposts on the translation highwayMarta Gwinn
Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Community Genet 9:21-6. 2006....
Family history of type 2 diabetes: a population-based screening tool for prevention?Susan Hariri
Epidemic Intelligence Service Officer, Office of Workforce and Career Development, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Genet Med 8:102-8. 2006..To evaluate the use of self-reported family medical history as a potential screening tool to identify people at-risk for diabetes...
Mendelian randomisation: a new spin or real progress?Julian Little
Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Lancet 362:930-1. 2003
Horizon scanning for new genomic testsMarta Gwinn
McKing Consulting Corporation, Atlanta, Georgia, USA
Genet Med 13:161-5. 2011..Consequently, it is not easy to determine which tests are in development, currently available, or discontinued. We developed and assessed the usefulness of a systematic approach to identifying new genomic tests on the Internet...
Discriminative accuracy of genomic profiling comparing multiplicative and additive risk modelsRamal Moonesinghe
Office of Minority Health and Health Disparities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Eur J Hum Genet 19:180-5. 2011..Unraveling the exact mode of biological interaction is important when effect sizes of genetic variants are moderate at the least, to prevent the incorrect estimation of risks...
Awareness and utilization of BRCA1/2 testing among U.S. primary care physiciansCecelia A Bellcross
CDC, Atlanta, Georgia 30333, USA
Am J Prev Med 40:61-6. 2011..Testing for mutations in the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 (BRCA) has been commercially available since 1996...
Translational research in cancer genetics: the road less traveledS D Schully
Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, MD 20892, USA
Public Health Genomics 14:1-8. 2011..In addition to discovery research in cancer genetics, a translational research infrastructure is urgently needed to methodically evaluate and translate gene discoveries for cancer care and prevention...
On the use of population attributable fraction to determine sample size for case-control studies of gene-environment interactionQuanhe Yang
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Epidemiology 14:161-7. 2003..In this case, the associated odds ratio for interaction will be weaker and a considerably larger sample size may be needed...
Public awareness and use of direct-to-consumer genetic tests: results from 3 state population-based surveys, 2006Katrina A B Goddard
National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA, USA
Am J Public Health 99:442-5. 2009..Less than 1% had used a health-related direct-to-consumer genetic test. Public health systems should increase consumer and provider education and continue surveillance on direct-to-consumer genetic tests...
Population screening in the age of genomic medicineMuin J Khoury
Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, USA
N Engl J Med 348:50-8. 2003
Can family history be used as a tool for public health and preventive medicine?Paula W Yoon
Office of Genomics and Disease Prevention, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30341 3724, USA
Genet Med 4:304-10. 2002
Quantifying the health benefits of genetic tests: the importance of a population perspectiveMuin J Khoury
Office of Genomics and Disease Prevention, Coordinating Center for Health Promotion, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Genet Med 8:191-5. 2006
Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology reviewS S Wang
Epidemic Intelligence Service, Division of Applied Public Health Training, Epidemiology Program Office, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Genet Med 1:332-9. 1999..State programs are beginning to offer screening in newborns for MCADD using MS/MS. In addition, a private company currently offers voluntary supplemental newborn screening for MCADD to birthing centers...
Population screening for genetic disorders in the 21st century: evidence, economics, and ethicsS D Grosse
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, U S Department of Health and Human Services, Atlanta, GA 30333, USA
Public Health Genomics 13:106-15. 2010..Proposals for population screening for genetic diseases require careful scrutiny by decision makers because of the potential for harms and the need to demonstrate benefits commensurate with the opportunity cost of resources expended...
Tests of trait-haplotype association when linkage phase is ambiguous, appropriate for matched case-control and cohort studies with competing risksW D Flanders
Department of Epidemiology, Rollins School of Public Health, Emory University, 1599 Clifton Road, Atlanta, GA 30322, USA
Stat Med 24:2299-316. 2005....
Trends and patterns of mortality associated with birth defects and genetic diseases in the United States, 1979-1992: an analysis of multiple-cause mortality dataQ Yang
Epidemic Intelligence Service, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Genet Epidemiol 14:493-505. 1997..The upward trend we detected for the deaths with genetic diseases was most likely related to improved recognition and reporting of some genetic diseases rather than to the increased prevalence...
Public attitudes regarding the donation and storage of blood specimens for genetic researchS S Wang
Epidemic Intelligence Service, Division of Applied Public Health Training, Epidemiology Program Office, Centers for Disease Control and Prevention, Atlanta, GA, USA
Community Genet 4:18-26. 2001....
Delta-aminolevulinic acid dehydratase genotype and lead toxicity: a HuGE reviewS N Kelada
Office of Genetics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, GA, USA
Am J Epidemiol 154:1-13. 2001..No firm evidence exists for an association between ALAD genotype and susceptibility to lead toxicity at background exposure levels; therefore, population testing for the ALAD polymorphism is not justified...
A case-control study of maternal alcohol consumption and intrauterine growth retardationQ Yang
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Highway, MS F-45, Atlanta, GA 30341, USA
Ann Epidemiol 11:497-503. 2001....
Public health impact of genetic tests at the end of the 20th centuryP W Yoon
Office of Genetics and Disease Prevention, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30341-3724, USA
Genet Med 3:405-10. 2001..However, as more tests are being considered for newborn screening, and associations between genes and common diseases are being discovered, the impact of genetic testing on public health is likely to increase...
HFE genotype and transferrin saturation in the United StatesMary E Cogswell
Division of Nutrition and Physical Activity, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, USA
Genet Med 5:304-10. 2003..Examine the penetrance (defined by high transferrin saturation [TS]) of C282Y and H63D in the U.S. population...
Public health action in genomics is now needed beyond newborn screeningM S Bowen
Centers for Disease Control and Prevention, Department of Health and Human Services, Atlanta, GA, USA
Public Health Genomics 15:327-34. 2012..Enhanced partnerships between genetic and nongenetic providers of clinical medicine and public health are needed to overcome the challenges for implementing genomic medicine applications both now and in the future...
A decade of public health genomics in the United States: centers for disease control and prevention 1997-2007M J Khoury
National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA, USA
Public Health Genomics 12:20-9. 2009..We also outline a vision for public health genomics for the next decade...
Contribution of sickle cell disease to the occurrence of developmental disabilities: a population-based studyA Ashley-Koch
Office of Genetics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Genet Med 3:181-6. 2001..0001; for DD without stroke: O/E = 1.3, P = 0.23). CONCLUSIONS: Children with SCD have increased risk for DD associated with stroke; thus, aggressive interventions are needed to prevent stroke in these children...
Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997A S Brown
Office of Genetics and Disease Prevention, Centers for Disease Control and Prevention, Mailstop K-28, 4770 Buford Hwy NE, Atlanta, GA 30341, USA
Genet Med 3:109-11. 2001....
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an updateScott D Grosse
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA
Genet Med 8:205-12. 2006..Systematic collection and analysis of follow-up data are still needed to ascertain the frequencies of outcomes in screened cohorts...
Early diagnosis of cystic fibrosis in the newborn period and risk of Pseudomonas aeruginosa acquisition in the first 10 years of life: A registry-based longitudinal studyS S Wang
Epidemic Intelligence Service, Division of Applied Public Health Training, Epidemiology Program Office, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Pediatrics 107:274-9. 2001..The authors therefore investigated the association between early CF diagnosis and acquisition of Pseudomonas aeruginosa, the major bronchial pathogen, in the first decade of life...
