Objectives: To examine the opportunities for and responsibilities of the public health community in bridging the gap between gene discovery and the application of genetic information to improve health and prevent disease. Methods: We developed genetics-related definitions for the core functions and essential services of public health. We combined these definitions with a visual model to create one possible ‘blueprint’ for integrating genomics into public health activities. Results: The proposed blueprint and accompanying examples illustrate the important role for genomics throughout public health research, policy and practice. Further refinement and implementation of this blueprint represents an ambitious public health leadership agenda. Conclusions: Opportunities for immediate action include strategic planning for the integration of genomics across programs, developing genomics competencies among health professionals, enhancing surveillance and epidemiologic capacity to aid evidence-based policy making, building partnerships and seeking input from stakeholders and incorporating information about genomics into health communications.

1.
Ten great public health achievements – United States, 1900–1999. MMWR Morb Mortal Wkly Rep 1999;48:241–243.
2.
Kaplan F: Tay-Sachs disease carrier screening: A model for prevention of genetic disease. Genet Test 1998;2:271–292.
3.
Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K: Tay-Sachs disease – carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA 1993;270:2307–2313.
4.
Daly LE, Kirke PN, Molloy A, Weir DG, Scott JM: Folate levels and neural tube defects. Implications for prevention. JAMA 1995;274:1689–1702.
5.
Use of folic acid for prevention of spina bifida and other neural tube defects – 1983–1991. MMWR Morb Mortal Wkly Rep 1991;40:513–516.
6.
Seymour CA, Thomason MJ, Chalmers RA, et al: Newborn screening for inborn errors of metabolism: A systematic review. Health Technol Assess 1997;1:i–iv, 1–95.
7.
Azen C, Koch R, Friedman E, Wenz E, Fishler K: Summary of findings from the United States Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 1996;155(suppl 1):S29–S32.
8.
Health Resources and Services Administration, Genetics Services Branch, online. Available at http://www.mchb.hrsa.gov:80/html/genetics.html (accessed Jan 2, 2001).
9.
Council of Regional Networks for Genetic Services, online. Available at http://www.cc.emory.edu/PEDIATRICS/corn/corn.htm (accessed Jan 2, 2001).
10.
Collins FS, Patrinos A, Jordan E, Chakravarti A, Gesteland R, Walters L: New goals for the U.S. Human Genome Project: 1998–2003. Science 1998:282:682–689.
11.
Sander C: Genomic medicine and the future of health care. Science 2000;287:1977–1978.
12.
Centers for Disease Control and Prevention: Will Genetics Revolutionize Medicine? A Public Health Perspective, Dec 2000, online. Available at http://www.cdc.gov/genetics/info/perspectives/grevolution.htm (accessed Jan 2, 2001).
13.
Collins FS: Shattuck lecture – medical and societal consequences of the Human Genome Project. N Engl J Med 1999;341:28–37.
14.
Khoury MJ, Dorman JS: The Human Genome Epidemiology Network. Am J Epidemiol 1998;148:1–3.
15.
Khoury MJ, Beaty TH, Cohen BH: Fundamentals of Genetic Epidemiology. New York, Oxford University Press, 1993.
16.
US Department of Health and Human Services: Healthy People 2010 – Conference Edition 23: Public Health Infrastructure, online. Available at http://www.health.gov/healthypeople/document/html/volume2/23phi.htm (accessed Jan 2, 2001).
17.
Institute of Medicine: The Future of Public Health. Washington, DC, National Academy Press, 1988.
18.
Public Health Functions Steering Committee: Public Health in America, Fall 1994, online. Available at http://web.health.gov/phfunctions/public.htm (accessed Jan 2, 2001).
19.
Khoury MJ: From genes to public health: The applications of genetic technology in disease prevention. Genetics Working Group. Am J Public Health 1996;86:1717–1722.
20.
Centers for Disease Control and Prevention: Translating Advances in Human Genetics into Public Health Action: A Strategic Plan, Oct 1997, online. Available at http://www.cdc.gov/genetics/about/strategic.htm (accessed Jan 2, 2001).
21.
Public Health Functions Team: Public Health in America, Dec 1999, online. Available at http://web.health.gov/phfunctions/public.htm (accessed Jan 2, 2001).
22.
ARIC: Atherosclerosis Risk in Communities Study Description, online. Available at http://www.bios.unc.edu/cscs/ARIC/aricdesc.html (accessed Jan 2, 2001).
23.
National Heart, Lung, and Blood Institute: The Framingham Heart Study, online. Available at http://www.framingham.com/heart/index.htm (accessed Jan 2, 2001).
24.
National Center for Health Statistics: National Health and Nutrition Examination Survey: NHANES III Stored Biologic Specimens, Dec 2000, online. Available at http://www.cdc.gov/nchs/about/major/nhanes/coverpage.htm (accessed Jan 2, 2001).
25.
Burke W, Thomson E, Khoury MJ, et al: Hereditary hemochromatosis: Gene discovery and its implications for population-based screening. JAMA 1998;280:172–178.
26.
Bacon BR, Powell LW, Adams PC, Kresina TF, Hoofnagle JH: Molecular medicine and hemochromatosis: At the crossroads. Gastroenterology 1999;116:193–207.
27.
Wetterhall SF, Cogswell ME, Kowdley KV: Public health surveillance for hereditary hemochromatosis. Ann Intern Med 1998;129:980–986.
28.
McNicholl JM, Cuenco KT: Host genes and infectious diseases: HIV, other pathogens, and a public health perspective. Am J Prev Med 1999;16:141–154.
29.
McNicholl JM, Smith DK, Qari SH, Hodge T: Host genes and HIV: The role of the chemokine receptor gene CCR5 and its allele. Emerg Infect Dis 1997;3:261–271.
30.
Thursz MR, Kwiatkowski D, Allsopp CE, Greenwood BM, Thomas HC, Hill AV: Association between an MHC class II allele and clearance of hepatitis B virus in the Gambia. N Engl J Med 1995;332:1065–1069.
31.
Newport M, Levin M: Genetic susceptibility to tuberculosis. J Infect 1999;39:117–121.
32.
Swerdlow DL, Mintz ED, Rodriguez M, et al: Severe life-threatening cholera associated with blood group O in Peru: Implications for the Latin American epidemic. J Infect Dis 1994;170:468–472.
33.
Miller LH: Impact of malaria on genetic polymorphism and genetic diseases in Africans and African Americans. Proc Natl Acad Sci USA 1994;91:2415–2419.
34.
US Department of Energy: Human Genome Project Information: Ethical, Legal, and Social Issues, Dec 2000, online. Available at http://www.ornl.gov/hgmis/elsi/elsi.html (accessed Jan 2, 2001).
35.
Price DT, Ridker PM: Factor V Leiden mutation and the risks for thromboembolic disease: A clinical perspective. Ann Intern Med 1997;127:895–903.
36.
Ridker PM, Miletich JP, Hennekens CH, Buring JE: Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening. JAMA 1997;277:1305–1307.
37.
Vandenbroucke JP, van der Meer FJM, Helmerhorst FM, Rosendaal, FR: Factor V Leiden: Should we screen oral contraceptive users and pregnant women? BMJ 1996;313:1127–1130.
38.
National Human Genome Research Institute: Consumer Day 2000, Nov 2000, online. Available at http://www.nhgri.nih.gov/CONF/consumer_day.html (accessed Jan 2, 2001).
39.
Genetic Alliance: Consumer Voices Network, online. Available at http://www.geneticalliance.org/Programs/policy.html (accessed Jan 2, 2001).
40.
Miller RL: Breathing freely: The need for asthma research on gene-environment interactions. Am J Public Health 1999;89:819–822.
41.
Cookson W: The alliance of genes and environment in asthma and allergy. Nature 1999;402:B5–B11.
42.
Centers for Disease Control and Prevention: CDC’s Asthma Prevention Program, July 1998, online. Available at http://www.cdc.gov/nceh/asthma/factsheets/asthma.htm (accessed Jan 2, 2001).
43.
National Heart, Lung, and Blood Institute: National Asthma Education and Prevention Program, online. Available at http://www.nhlbi.nih.gov/about/naepp/index.htm (accessed Jan 2, 2001).
44.
AAFA. Asthma and Allergy Foundation of America, online. Available at http://www.aafa.org/ (accessed Jan 2, 2001).
45.
AANMA. Allergy and Asthma Network – Mothers of Asthmatics, Inc., online. Available at http://www.aanma.org/ (accessed Jan 2, 2001).
46.
ALA. American Lung Association – Asthma, online. Available at http://www.lungusa.org/asthma (accessed Jan 2, 2001).
47.
ACAAI. American College of Allergy, Asthma, and Immunology, online. Available at http://www.acaai.org/ (accessed Jan 2, 2001).
48.
ASTHO. Association of State and Territorial Health Officials Genetics Project, online. Available at http://www.astho.org/access/genetics.html (accessed Jan 2, 2001).
49.
Newborn screening for cystic fibrosis: A paradigm for public health genetics policy development. MMWR Morb Mortal Wkly Rep 1997;46:1–22.
50.
National Institutes of Health Consensus Statement: Genetic Testing for Cystic Fibrosis, Apr 1997, online. Available at http://odp.od.nih.gov/consensus/cons/106/106_statement.html (accessed Jan 2, 2001).
51.
Statement of the American Society of Human Genetics on cystic fibrosis carrier screening. Am J Hum Genet 1992;51:1443–1444.
52.
National Cancer Institute: CancerNet: PDQ: Screening/Detection – Colorectal Cancer – Health Professionals, Jan 2001, online. Available at http://cancernet.nci.nih.gov/pdq.html (accessed Jan 2, 2001).
53.
Winawer SJ, Fletcher RH, Miller L, et al: Colorectal cancer screening: Clinical guidelines and rationale. Gastroenterology 1997;112:594–642.
54.
Centers for Disease Control and Prevention: Office of Genetics and Disease Prevention 1999 Highlights, Dec 2000, online. Available at http://www.cdc.gov/genetics/about/highlights.html (accessed Jan 2, 2001).
55.
The White House at Work. President Clinton: Banning genetic discrimination in the federal workplace, Feb 2000, online. Available at http://www.whitehouse.gov/WH/Work/020800.html (accessed Jan 2, 2001).
56.
National Conference of State Legislatures: NCSL Genetics-Related Tables, Dec 2000, online. Available at http://www.ncsl.org/programs/employ/genetics/charts.htm (accessed Jan 2, 2001).
57.
Waisbren SE, Hanley W, Levy HL, et al: Outcome at age 4 years in offspring of women with maternal phenylketonuria: The Maternal PKU Collaborative Study. JAMA 2000;283:756–762.
58.
National PKU News: PKU Legislation and Policies – State Laws and Policies, Feb 1999, online. Available at http://www.pkunews.org/ (accessed Jan 2, 2001).
59.
St James PS, Shapiro E, Waisbren SE: The Resource Mothers Program for maternal phenylketonuria. Am J Public Health 1999;89:762–764.
60.
Fineman RM: Qualifications of public health geneticists? Community Genet 1999;2:113–114.
61.
Office of Disease Prevention and Health Promotion: The Public Health Workforce: An Agenda for the 21st Century, online. Available at http://www.health.gov/phfunctions/ (accessed Jan 2, 2001).
62.
Centers for Disease Control and Prevention/Agency for Toxic Substances and Disease Registry: Strategic Plan for Public Health Workforce Development. Atlanta, GA, CDC, 2000.
63.
University of Washington School of Public Health and Community Medicine: Public Health Genetics, Aug 2000, online. Available at http://depts.washington.edu/~phgen/ (accessed Jan 2, 2001).
64.
University of Michigan School of Public Health: Public Health Genetics, Mar 1999, online. Available at http://www.sph.umich.edu/genetics (accessed Jan 2, 2001).
65.
Gaston MH, Verter JI, Woods G, et al: Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. N Engl J Med 1986;314:1593–1599.
66.
Mortality among children with sickle cell disease identified by newborn screening during 1990–1994 – California, Illinois, and New York. MMWR Morb Mortal Wkly Rep 1998;47:169–172.
67.
Evaluating newborn screening program data systems – Georgia, 1998. MMWR Morb Mortal Wkly Rep 1999;48:1101–1104.
68.
Holtzman NA, Watson MS (eds): Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Washington, National Institutes of Health, 1997.
69.
Secretary’s Advisory Committee on Genetic Testing: Adequacy of oversight of genetic tests: Recommendations of the SACGT, Nov 2000, online. Available at http://www4.od.nih.gov/oba/gtdocuments.html (accessed Jan 2, 2001).
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