Publications from Researchers

It is only fairly recently that genomics has been considered in the context of public health.  This section includes links to a peer-reviewed publications and other articles published by researchers affliated with CGPH, followed by scientific articles from the larger community of researchers.


Publications from researchers affiliated with CGPH 

Click on a topic listed below to see relevant journal articles published by researchers affiliated with CGPH.

Publications from researchers outside of CGPH

Click on a topic below to see relevant journal articles.

Public Health and Genomics

Harrison TA, Burke W, Edwards KL. The asthma consultative process: a collaborative approach to intergrating genomics into public health practice Preventing Chronic Disease 2005;2;A27

Raup SF, Oehlke KP, Edwards KL. Developing academic-practice partnerships to enhance the integration of genomics into public health: The University of Washington Center for Genomics and Public Health Experience. Preventing Chronic Disease. 2005 Apr; 2(2):A02.

Family History

Kim H, Friedlander Y, Longstreth WT, Jr, Edwards KL, Schwartz, SM, Siscovick DS. Family history as a risk factor for stroke in young women. Am J Prev Med. 2004 Dec;27(5):391-396.

Harrison T, Hindorff LA, Kim H, Wines RCM, Bowen DJ, McGrath B, Edwards KL. Family History of Diabetes as a Potential Public Health Tool. Am J Preventive Med 2003;24:152-9.

Wylie Burke, MD, PhD, Megan Fesinmeyer, Kate Reed, MPH, Lindsay Hampson, Chris Carlsten, MD. Family History as a Predictor of Asthma Risk Am J Prev Med. 2003 Feb;24(2):160-9.

Cardiovascular Disease, Cerebrovascular Disease, and Diabetes

Hutter CM, Austin MA, Farin FM, Viernes HV, Edwards KL, Leonetti DL, McNeely MJ, Fujimoto WY. Association of endothelial lipase gene (LIPG) haplotypes with high-density lipoprotein cholesterol subfractions and apolipoprotein Al plasma levels in Japanese Americans. Atherosclerosis. 2006 Mar; 185 (1): 78-86.

Hindorff LA, Heckbert SR, Psaty BM, Lumley T, Siscovick DS, Herrignton DM, Edwards KL, Tracy RP. Beta(2)-Adrenergic receptor polymorphisms and determinants of cardiovascular risk: the Cardiovascular Health Study. Am J Hypertens. 2005 Mar;18 (3):392-7.

Austin MA, Talmud PJ, Farin FM, Nickerson DA, Edwards KL, Leonetti D, McNeely MH, Viernes HM, Humphries SE, Fujimoto WY. Association of Apolipoprotein A5 variants with LDL particle size in Japanese Americans. Biochim Biophys Acta 2004, 1688(1): p. 1-9.

Austin, M.A., C.M. Hutter, R.E. Zimmern and S.E. Humphries. Familial hypercholesterolemia and coronary heart disease: A HuGE association review. Am J Epidemiol, 160(5): p. 421-429. 2004.

Austin, M.A., C.M. Hutter, R.E. Zimmern and S.E. Humphries. Genetic causes of monogenetic familial hypercholesterolemia: A HuGE prevalence review. Am J Epidemiol, 160(5): p. 407-420. 2004

Hutter, C.M., M.A. Austin and S.E. Humphries. Familial hypercholesterolemia, peripheral arterial disease and troke: A HuGE mini-review. Am J Epidemiol, 160(5): p. 430-435. 2004.

Austin MA, Edwards KL, Monks SA, Koprowicz KM, Brunzell JD, Motulsky AG, Mahaney MC, Hixson MC. Genomewide scan for low-density lipoprotein particle size in familial combined hyperlipidemia and familial hypertriglyceridemia. J Lipid Res, 2003, 44(11): p. 2161-8.

Bis JC, Smith NL, Psaty BM, Heckbert SR, Edwards KL, Lemaitre RN, Lumley T, Rosendal FR. Angiotensinogen MET235Thr polymorphism, ACE inhibitor therapy, and the risk of nonfatal stroke or myocardial infarction in hypertensive patients. Am J Hypterten 2003; 16(12): p 1011-7

Heckbert SR, Hindorff LA, Edwards KL, Psaty BM, Lumley T, Siscovick DS, Tang Z, Kronmal RA, Tracy R. B-2 adrenergic receptor polymorphisms and risk of incident cardiovascular events in the elderly. Circulation 2003;107:2021-4.

Hindorff LA, Heckbert SR, Tracy R, Tang Z, Psaty BM, Edwards KL, Siscovick DS, Kronmal RA, Nazar-Stewart V. Angiotensin II Type 1 receptor polymorphisms in the Cardiovascular Heatlh Study: relation to blood pressure, ethnicity and cardiovascular events. Am J Hypertension 2002;15:1050-6

Austin MA, Zimmern RL, Humphries SE. High "population attributable fraction" for coronary heart disease mortality among relatives in monogenic familial hypercholesterolemia. Genet Med. 2002 Jul-Aug;4(4):275-8.

Kim H, Marcovina SM, Edwards KL, McKnight B, Bradley CM, McNeely MJ, Psaty BM, Brunzell JD, Motulsky AG, Austin MA. Lipoprotein(a) as a risk factor for maternal cardiovascular disease death. Clin Genet 2001;60:188-97.

Pihlajamäki J, Austin M, Edwards K, Laakso M. A major gene effect on fasting insulin and insulin sensitivity in familial combined hyperlipidemia. Diabetes 2001;50:2396-401.

McNeely MJ, Edwards KL, Marcovina SM, Brunzell JD, Motulsky AG, Austin MA. Refining lipoprotein abnormalities in familial combined hyperlipidemia: A twenty year prospective study. Atherosclerosis 2001; 159:471-81

Kamigaki AS, Siscovick DS, Schwartz SM, Psaty BM, Edwards KL, Trivellore RE, Austin MA. Low-density lipoprotein particle size and risk of early-onset myocardial infarction in women. Am J Epidemiol 2001; 153:939-45.

Austin MA, Rodriguez BL, McKnight B, McNeely MJ, Edwards KL, Curb JD, Sharp DS. LDL Particle size, triglyceride and HDL cholesterol as risk factors for coronary heart disease in older Japanese-American men. Am J Cardiol 2000; Am J Cardio 2000;86:412-6.

Austin MA, McKnight B, Edwards KL, Bradley CM, McNeely MJ, Psaty BM, Brunzell JD, Motulsky AG. Cardiovascular disease mortality in the familial forms of hypertriglyceridemia: A twenty-year prospective study. Circulation 2000; 101:2777-82

Talmud PJ, Edwards KL, Turner CM, Newman B, Palmen JM, Humphries SE, Austin MA. Linkage of the cholesteryl ester transfer protein (CETP) gene to LDL particle size: use of a novel tetranucleotide repeat within the CETP promoter. Circulation 2000; 101:2461-6.

Edwards KL, Mahaney MC, Motulsky AG, Austin MA. Pleiotropic genetic effects on low-density lipoprotein size, plasma triglyceride and high density lipoprotein cholesterol in families. Arterioscler, Thromb, Vasc Biol 1999; 19: 2456-64.

Friedlander Y, Kark JD, Sinnreich R, Edwards KL, Austin MA. Inheritance of LDL peak particle diameter: Results from a segregation analysis in Israeli families. Genetic Epidemiol 1999; 16:382-96

Edwards KL, Burchfiel CM, Sharp DS, Curb JD, Rodriguez BL, Fujimoto WY, LaCroix AZ, Vitiello MV, Austin MA. Factors of the insulin resistance syndrome in non-diabetic and diabetic elderly Japanese American men. Amer J Epidemiol 1998; 147:441-7.

Austin MA, Hokanson JE, Edwards KL. Hypertriglyceridemia as a cardiovascular risk factor. Am J Cardio 1998;8:7B-12B.

Austin MA & Edwards KL. Small, dense LDL, the insulin resistance syndrome and noninsulin-dependent diabetes. Curr Opin Lipidology. 1996; 7:167-71.

Austin MA, Mykkanen L, Kuusisto J, Edwards KL, Nelson C, Haffner SM, Pyorala K, Laakso M. A prospective study of small, LDLs as a risk factor for NIDDM in elderly men and women. Circulation 1995; 92:1770-1778.

Austin MA, Paritz-Jarvik G, Hokanson JE, Edwards K. Complex segregation analysis of LDL peak particle diameter. Genetic Epidemiol 1993;10:599-604.

Twin Studies

Afari N, Noonan C, Goldberg J, Edwards K, Gadepalli K, Osterman B, Evanoff C, Buchwald D. University of Washington Twin Registry: construction and characteristics of a community-based twin registry. Twin Res Genet. 2006 Dec; 9(6): 1023-9.

Edwards KL, Talmud PJ, Newman B, Krauss RM, Austin MA. Lipoprotein candidate genes for multivariate factors of the insulin resistance syndrome: A sib-pair linkage analysis in women twins. Twin Research 2001; 4:41-7.

Friedlander Y, Talmud P, Edwards K, Humphries SE, Austin MA. Sib-pair linkage analysis of longitudinal changes in lipoprotein risk factors and lipase genes in women twins. J Lipid Research 2000;41:1302-9 .

Austin MA, Talmud PJ, Luong LA, Haddad L, Day INM, Newman B, Edwards KL, Krauss RM, Humphries SE. Candidate-gene studies of atherogenic lipoprotein phenotype: A sib pair linkage analysis of dizygous (DZ) women twins. Am J Hum Genet 1998;62:406-419.

Edwards KL, Austin MA, Newman B, Mayer E, Selby JV, Krauss RM. Heritability of factors of the Insulin Resistance Syndrome in women twins. Genetic Epidemiol 1997;14:241-53.

Friedlander Y, Austin MA, Newman B, Edwards K, Mayer-Davis EJ, King MC. Heritability of longitudinal changes in coronary heart disease Risk factors in women twins. Am J Hum Genet 1997;60:1502-12.

Austin MA, Friedlander Y, Newman B, Edwards K, Mayer EJ, King MC. Genetic influences on changes in body mass index: A longitudinal analysis of women twins. Obesity Research 1997; 5:326-331.

Mayer E, Zhang D, Newman B, Austin MA, Quesenberry C, Edwards K, Selby JV. Genetic and environmental influences on the insulin resistance syndrome: An analysis of women twins. Am J Epidemiol. 1996;143:323-32.

Edwards KL, Austin MA, Jarvik G. Evidence for genetic influences on smoking in women twins. Clinical Genetics. 1995;47:236-244.

Edwards KL, Austin MA, Newman B, Mayer E, Krauss RM, Selby JV. Multivariate analysis of the Insulin Resistance Syndrome in Women. Arterioscler Thromb. 1994;14:1940-1945.

Austin MA, Newman B, Selby JV, Edwards K, Mayer EJ, Krauss RM. Genetics of low-density lipoprotein subclass phenotypes in women twins: Concordance, heritability and commingling analysis. Arterioscler Thromb. 1993;13:687-695. 

Conditions with a Genetic Component


Zhang C, Williams MA, Edwards KL, Austin,MA. Trp64Arg polymorphism of the β3-adrenergic receptor gene, pre-pregnancy obesity and risk of pre-eclampsia. J Matern Fetal Neonatal Med 2005, 17(1): 19-28.


Kim H, Hutter CM, Monks SA, Edwards KL. Comparison of single-nucleotide polymorphisms and microsatellites in detecting quantitative trait loci for alcoholism: The Collaborative Study on the Genetics of Alcoholism. BMC Genet. 6 Suppl 1: S5, Dec/30/2005.


Goode EL, Badzioch MD, Kim H, Gagnon F, Rozek LS, Edwards KL, Jarvik GP. Multiple Genome-Wide Analyses of Smoking Behavior in the Framingham Heart Study. BMC Genetics 2003 Suppl 1: p. S102.

Down's Syndrome

Doria-Rose VP, Kim HS, Augustine E, Edwards KL. Parity and the risk of Down syndrome. Am J Epidemiol 2003; 158(6) p. 503-8.

Doria-Rose VP, Edwards KL. Doria-Rose and Edwards respond to "Parity and Down's Syndrome". Am J Epidemiol 2033; 158(6) p. 512-3.


Sieh W, Edwards KL, Fitzpatrick AL, Srinouanprachanh SL, Farin FM, Monks SA, Kronmal RA, Eaton DL. Genetic Susceptibility to Prostrate Cancer: Prostate-specific Antigen and its Interaction with the Androgen Receptor. Cancer Causes Control. 2006 Mar; 17 (2):187-97.

Su, Y.A., M.M. Lee, C.M. Hutter and P.S. Meltzer, Characterization of a highly conserved gene (OS4) amplified with CDK4 in human sarcomas. Oncogene, 15(11): 1289-94. 1997.

Su, Y.A., C.M. Hutter, J.M. Trent and P.S. Meltzer, Complete sequence analysis of a gene (OS-9) ubiquitously expressed in human tissues and amplified in sarcomas. Mol Carcinog, 15(4): 270-5. 1996.

Neurological Conditions

Zabetian CP, Hutter CM, Yearout D, Lopez AN, Factor SA, Griffith A, Leis BC, Bird TD, Nutt JG, Higgins DS, Roberts JW, Kay DM, Edwards KL, Samii A, Payami H. LRRK2 G2019S in Families with Parkinson's Disease Originating from Europe and the Middle East: Evidence for Two Distinct Founding Events Beginning Two Millennia Ago. American Journal of Human Genetics. 2006 Oct; 79(4):752-8.

Ramos EM, Lin TM, Larson EB, Maezawa I, Tseng L, Edwards KL, Schellenberg GD, John Hansen A, Kukull WA, Jin LW, Tumor necrosis factor alpha and interleukin 10 promoter region polymorphisms and risk of late-onset Alzheimer's disease. Archives of Neurology. 2006 Aug;63(8):1165-9.

Cystic Fibrosis

McKone EF, Emerson SS, Edwards KL, Aitken ML. The influence of Cystic Fibrosis genotype on mortality. Lancet 2003;361:1671-6.

Liver Transplantation

Hebert MF, Dowling ALS, Gierwatowski C, Lin YS, Edwards KL, Davis CL, Marsh CL, Schuetz EG, Thummel KE. Association between MDR1 genotype and post liver transplantation rental dysfunction in patients receiving calcineurin inhibitors. Pharmacogenetics 2003, 13(11): p. 661-674.


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. (PDF)

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

Guttmacher AE, Porteous ME, McInerney JD (2007). Educating Health-Care Professionals about Genetics and Genomics." Nat Rev Genet. 2007 Feb;8(2):151-7.

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). "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.

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.

Ethical, Legal, and Social Issues (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.


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.

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