Successful completion of the Human Genome Project has raised public expectations that research findings will translate quickly into health benefits; however, the gap between biomedical research and clinical and public health application seems wider than ever. Public health scientists now have the opportunity to help create a broad concept of research translation that integrates genomic information into policies, programs and sevices benefiting the whole population. Important ’signposts’ along the translation highway include conducting population-based reearch in genomics, developing evidence on the clinical and public health value of genomic information, and integrating genomics into health practice.

Keywords:
Biobanks, Genomics, Public health, Population-based studies, Translation
1.
Collins FS, Green ED, Guttmacher AE, Guyer MS: A vision for the future of genomics research. Nature 2003;422:835–843.
2.
Rockhill B, Kawachi I, Colditz GA: Individual risk prediction and population-wide disease prevention. Epidemiol Rev 2000;22:176–180.
3.
Willett WC: Balancing life-style and genomics research for disease prevention. Science 2002;296:695–698.
4.
Merikangas KR, Risch N: Genomic priorities and public health. Science 2003;302:599–601.
5.
Berrettini W, Bierut L, Crowley TJ, Cubells JF, Frascella J, Gelernter J, et al: Setting priorities for genomic research. Science 2004;304:1445–1447.
6.
World Health Organization: World report on knowledge for better health. Draft. http://www.who.int/entity/rpc/meetings/en/WR2004AnnotatedOutline.pdf.
7.
Chanock S, Wacholder S: One gene and one outcome? No way. Trends Mol Med 2002;8:266–269.
8.
Lenfant C: Clinical research to clinical practice – lost in translation? N Engl J Med 2003;349:868–874.
9.
Khoury MJ, Little J, Burke W: Human genome epidemiology: scope and strategies; in Khoury MJ, Little J, Burke W (eds): Human Genome Epidemiology. New York, Oxford University Press, 2004, pp 3–16.
10.
Burke W: Genetic testing. N Engl J Med 2002;347:1867–1875.
11.
Gwinn M, Khoury MJ: Epidemiologic approach to genetic tests: population-based data for preventive medicine; in Khoury MJ, Little J, Burke W (eds): Human Genome Epidemiology. New York, Oxford University Press, 2004, pp 195–206.
12.
Ioannidis JPA, Lau J: Integrating genetics into randomized controlled trials; in Khoury MJ, Little J, Burke W (eds): Human Genome Epidemiology. New York, Oxford University Press, 2004, pp 247–263.
13.
Centers for Disease Control and Prevention, Office of Genomics and Disease Prevention: Genomics and population health: United States, 2003. Atlanta, 2004. http://www.cdc.gov/genomics/activities/ogdp/2003.htm.
14.
Peltonen L, McKusick VA: Genomics and medicine. Dissecting human disease in the postgenomic era. Science 2001;291:1224–1229.
15.
ARIC investigators. The Atherosclerosis Risk in Communities (ARIC) Study: Design and objectives. Am J Epidemiol 1989;129:687–702.
16.
Wright AF, Carothers AD, Campbell H: Gene-environment interactions – the BioBank UK study. Pharmacogenomics J 2002;2:75–82.
17.
Hakonarson H, Gulcher JR, Stefansson K: deCODE Genetics, Inc. Pharmacogenomics 2003;4:209–15.
18.
Khoury MJ, Millikan R, Little J, Gwinn M: The emergence of epidemiology in the genomics age. Int J Epidemiol 2004;33:936–944.
19.
Marshfield Clinic: Personalized Medicine Research Project. http://www.mfldclin.edu/pmrp/default.asp.
20.
Collins FS: The case for a US prospective cohort study of genes and environment. Nature 2004;429:475–477.
21.
Public Population Project in Genomics. http://www.p3gconsortium.org/index.cfm.
22.
Centers for Disease Control and Prevention, Office of Genomics and Disease Prevention: Human Genome Epidemiology Network (HuGENet). http://www.cdc.gov/genomics/hugenet/default.htm.
23.
University of Washington. Center for Genomics and Public Health. Asthma genomics: implications for public health. March 2004. http://depts.washington.edu/cgph/workinggroups/Asthma%20Genomics_Implications%20for%20Public%20Health.pdf.
24.
Collins FS, McKusick VA: Implications of the Human Genome Project for medical science. JAMA 2001;285:540–544.
25.
Haga SB, Khoury MJ, Burke W: Genomic profiling to promote a healthy lifestyle: not ready for prime time. Nat Genet 2003;34:347–350.
26.
Yoon PW, Scheuner MT, Khoury MJ: Research priorities for evaluating family history in the prevention of common chronic diseases. Am J Prev Med 2003;24:128–135.
27.
Centers for Disease Control and Prevention, Office of Genomics and Disease Prevention: Family history public health initiative. http://www.cdc.gov/genomics/info/factshts/famhist.htm.
28.
Newborn Screening Task Force: Serving the family from birth to the medical home. Pediatrics 2000;106(2 Pt 2):383–427.
29.
Centers for Disease Control and Prevention: Evaluation of a direct-to-consumer marketing campaign regarding genetic testing for breast and ovarian cancer susceptibility – four cities, 2003. MMWR 2004;53:603–606.
30.
Haddow JE, Palomaki GE: ACCE: a model process for evaluating data on emerging genetic tests; in Khoury MJ, Little J, Burke W (eds): Human Genome Epidemiology. New York, Oxford University Press, 2004, pp 217–233. (Draft reviews are available on the CDC website. http://www.cdc.gov/genomics/activities/fbr.htm.)
31.
Centers for Disease Control and Prevention, Office of Genomics and Disease Prevention: Model system for collecting, analyzing and disseminating information on genetic tests. http://www.cdc.gov/genomics/activities/fbr.htm.
32.
U.S. Preventive Services Task Force: Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility. http://www.ahrq.gov/clinic/uspstf/uspsbrgen.htm.
© 2006 S. Karger AG, Basel
2006
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