Other Publications
For links to other resources, please click on the topics listed below to jump to that section on this page.
Background Information
Little, J., M. J. Khoury, et al. (2003). "The human genome project is complete. How do we develop a handle for the pump?" Am J Epidemiol 157(8): 667-73.
Khoury, M. J. and J. S. Dorman (1998). "The Human Genome Epidemiology Network." Am J Epidemiol 148(1): 1-3.
Khoury, M. J. (1996). "From genes to public health: the applications of genetic technology in disease prevention. Genetics Working Group." Am J Public Health 86(12): 1717-22.
Importance of Genetics to Public Health and Health Care
Educating Health-Care Professionals about Genetics and Genomics. Genomics will irrevocably change healthcare and medicine. Yet, relatively few practitioners know how to utilize genomics in their practice. This paper gives guidelines for medical genetic training and provides resources for continuing genetic training. Case studies are given to address referral of patients to genetic experts, the use of genetic tests, and the ethical concerns associated with genetic information.
McBride, C. M. (2005). "Blazing a trail: a public health research agenda in genomics and chronic disease." Prev Chronic Dis 2(2): A04.
Raup, S. F., K. P. Oehlke, et al. (2005). "Developing academic-practice partnerships to enhance the integration of genomics into public health." Prev Chronic Dis 2(2): A02.
Khoury, M. J. (2003). "Genetics and genomics in practice: the continuum from genetic disease to genetic information in health and disease." Genet Med 5(4): 261-8.
Gwinn, M. and M. J. Khoury (2002). "Research priorities for public health sciences in the postgenomic era." Genet Med 4(6): 410-1.
Beskow, L. M., M. J. Khoury, et al. (2001). "The Integration of Genomics into Public Health Research, Policy and Practice in the United States." Community Genet 4(1): 2-11.
Khoury, M.J., Beskow, L, Gwinn, M.L., Collins, F.S., McKusick, V.A. (2001) "Translation of Genomic Research Into Health Care." JAMA 285: 2447-2448.
Steinberg, K. K., M. Gwinn, et al. (2001). "msJAMA. The role of genomics in public health and disease prevention." Jama 286(13): 1635.
Austin, M. A., P. A. Peyser, et al. (2000). "The interface of genetics and public health: research and educational challenges." Annu Rev Public Health 21: 81-99.
Omenn, G. S. (2000). "Public health genetics: an emerging interdisciplinary field for the post-genomic era." Annu Rev Public Health 21: 1-13.
McNicholl, JM, Hughes, JM. (1998) "Human genetics and emerging infectious diseases: issues and prevention opportunities." U.S. Medicine (June); 4.
Khoury, M. J. (1997). "Genetic epidemiology and the future of disease prevention and public health." Epidemiol Rev 19(1): 175-80.
Khoury, M. J. (1997). "Relationship between medical genetics and public health: changing the paradigm of disease prevention and the definition of a genetic disease." Am J Med Genet 71(3): 289-91.
How to start/organize a genetics program
Kaye, C. I., R. Laxova, et al. (2001). "Integrating genetic services into public health--guidance for state and territorial programs from the National Newborn Screening and Genetics Resource Center (NNSGRC)." Community Genet 4(3): 175-96.
Piper, M. A., J. M. Lindenmayer, et al. (2001). "The role of state public health agencies in genetics and disease prevention: results of a national survey." Public Health Rep 116(1): 22-31
Baker, T. "Genetics and public Health - Need for Information, Integration and Infrastructure." (1998) ASTHO Report (September-October): 1.
Family History
Wattendorf, D. J. and D. W. Hadley (2005). "Family history: the three-generation pedigree." Am Fam Physician 72(3): 441-8.
Guttmacher, A. E., F. S. Collins, et al. (2004). "The family history--more important than ever." N Engl J Med 351(22): 2333-6.
Rich, E. C., W. Burke, et al. (2004). "Reconsidering the family history in primary care." J Gen Intern Med 19(3): 273-80.
Malarcher, A. M., W. H. Giles, et al. (2002). "Helping high-risk families: medical and public health approaches." Genet Med 4(4): 239-40.
Yoon, P. W., M. T. Scheuner, et al. (2002). "Can family history be used as a tool for public health and preventive medicine?" Genet Med 4(4): 304-10.
Scheuner, M. T., S. J. Wang, et al. (1997). "Family history: a comprehensive genetic risk assessment method for the chronic conditions of adulthood." Am J Med Genet 71(3): 315-24.
Genetic Tests
Khoury, M. J., K. Jones, et al. (2006). "Quantifying the health benefits of genetic tests: the importance of a population perspective." Genet Med 8(3): 191-5.
Burke, W. (2002). "Genetic testing." N Engl J Med 347(23): 1867-75.
Burke, W., D. Atkins, et al. (2002). "Genetic test evaluation: information needs of clinicians, policy makers, and the public." Am J Epidemiol 156(4): 311-8.
Khoury, M. J. (2002). "Commentary: epidemiology and the continuum from genetic research to genetic testing." Am J Epidemiol 156(4): 297-9.
Evans, J. P., C. Skrzynia, et al. (2001). "The complexities of predictive genetic testing." Bmj 322(7293): 1052-6.
Pagon, R. A., N. B. Hanson, et al. (2001). "Genetic testing." West J Med 174(5): 344-7.
Yoon, P. W., B. Chen, et al. (2001). "Public health impact of genetic tests at the end of the 20th century." Genet Med 3(6): 405-10.
Yang, Q., M. J. Khoury, et al. (2000). "On the use of population-based registries in the clinical validation of genetic tests for disease susceptibility." Genet Med 2(3): 186-92.
Epidemiology Concepts
Calafell, F. and N. Malats (2003). "Basic molecular genetics for epidemiologists." J Epidemiol Community Health 57(6): 398-400.
Khoury, M. J., L. L. McCabe, et al. (2003). "Population screening in the age of genomic medicine." N Engl J Med 348(1): 50-8.
Malats, N. and F. Calafell (2003). "Basic glossary on genetic epidemiology." J Epidemiol Community Health 57(7): 480-2.
Malats, N. and F. Calafell (2003). "Advanced glossary on genetic epidemiology." J Epidemiol Community Health 57(8): 562-4.
Little, J., L. Bradley, et al. (2002). "Reporting, appraising, and integrating data on genotype prevalence and gene-disease associations." Am J Epidemiol 156(4): 300-10.
Botto, L. D. and M. J. Khoury (2001). "Commentary: facing the challenge of gene-environment interaction: the two-by-four table and beyond." Am J Epidemiol 153(10): 1016-20.
Khoury, M. J. (1999). "Human genome epidemiology: translating advances in human genetics into population-based data for medicine and public health." Genet Med 1(3): 71-3.
Khoury, M. J. and Q. Yang (1998). "The future of genetic studies of complex human diseases: an epidemiologic perspective." Epidemiology 9(3): 350-4.
Yang, Q. and M. J. Khoury (1997). "Evolving methods in genetic epidemiology. III. Gene-environment interaction in epidemiologic research." Epidemiol Rev 19(1): 33-43.
Communicating Ideas of Risk, Disease, and Informed Consent
Morris, J., M. Gwinn, et al. (2003). "Public knowledge regarding the role of genetic susceptibility to environmentally induced health conditions." Community Genet 6(1): 22-8.
Beskow, L. M., W. Burke, et al. (2001). "Informed consent for population-based research involving genetics." Jama 286(18): 2315-21.
Wang, S. S., F. Fridinger, et al. (2001). "Public attitudes regarding the donation and storage of blood specimens for genetic research." Community Genet 4(1): 18-26.
Khoury, M. J., J. F. Thrasher, et al. (2000). "Challenges in communicating genetics: a public health approach." Genet Med 2(3): 198-202.
ELSI
Billings, P. R. (2005). "Genetic nondiscrimination." Nat Genet 37(6): 559-60.
Greely, H. T. (2005). "Banning genetic discrimination." N Engl J Med 353(9): 865-7.
Sankar, P., M. K. Cho, et al. (2004). "Genetic research and health disparities." Jama 291(24): 2985-9.
Clayton, E. W. (2003). "Ethical, legal, and social implications of genomic medicine." N Engl J Med 349(6): 562-9.
Austin, M. A. (2002). "Ethical issues in human genome epidemiology: a case study based on the Japanese American Family Study in Seattle, Washington." Am J Epidemiol 155(7): 585-92.
Marks, A. D. and K. K. Steinberg (2002). "The ethics of access to online genetic databases: private or public?" Am J Pharmacogenomics 2(3): 207-12.
Steinberg, K. K. (2000). "Risks associated with genetic testing: health insurance discrimination or simply business as usual?" J Am Med Womens Assoc 55(4): 241-2.
Schulte, P. A., G. P. Lomax, et al. (1999). "Ethical issues in the use of genetic markers in occupational epidemiologic research." J Occup Environ Med 41(8): 639-46.
Pharmacogenomics
Davis, R. L. and M. J. Khoury (2006). "A public health approach to pharmacogenomics and gene-based diagnostic tests." Pharmacogenomics 7(3): 331-7.
Corrigan, O. P. (2005). "Pharmacogenetics, ethical issues: review of the Nuffield Council on Bioethics Report." J Med Ethics 31(3): 144-8.
Little, J., L. Sharp, et al. (2005). "The epidemiologic approach to pharmacogenomics." Am J Pharmacogenomics 5(1): 1-20.
Evans, W. E. and H. L. McLeod (2003). "Pharmacogenomics--drug disposition, drug targets, and side effects." N Engl J Med 348(6): 538-49.
Weinshilboum, R. (2003). "Inheritance and drug response." N Engl J Med 348(6): 529-37.
Sadee, W. (2002). "Pharmacogenomics: the implementation phase." AAPS PharmSci 4(2): E5.
Omenn, G. S. (2001). "Prospects for pharmacogenetics and ecogenetics in the new millennium." Drug Metab Dispos 29(4 Pt 2): 611-4.
Mancinelli, L., M. Cronin, et al. (2000). "Pharmacogenomics: the promise of personalized medicine." AAPS PharmSci 2(1): E4.
Veenstra, D. L., M. K. Higashi, et al. (2000). "Assessing the cost-effectiveness of pharmacogenomics." AAPS PharmSci 2(3): E29.
Genomics Medicine
Burke, W. (2003). "Genomics as a probe for disease biology." N Engl J Med 349(10): 969-74.
Lynch, H. T. and A. de la Chapelle (2003). "Hereditary colorectal cancer." N Engl J Med 348(10): 919-32.
Nabel, E. G. (2003). "Cardiovascular disease." N Engl J Med 349(1): 60-72.
Nussbaum, R. L. and C. E. Ellis (2003). "Alzheimer's disease and Parkinson's disease." N Engl J Med 348(14): 1356-64.
Staudt, L.M. (2003). "Molecular Diagnosis of the Hematologic Cancers." N Engl J Med 348: 1777-1785.
Wooster, R. and B. L. Weber (2003). "Breast and ovarian cancer." N Engl J Med 348(23): 2339-47.
Guttmacher, A. E. and F. S. Collins (2002). "Genomic medicine--a primer." N Engl J Med 347(19): 1512-20.