The emergence of translational epidemiology: From scientific discovery to population health impact

American Journal of Epidemiology

Volumn 172, Issue 5, 2010, Pages 517-524

  Khoury, Muin J ^a,b   Gwinn, Marta ^a   Ioannidis, John P A ^c,d,e  

^a NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c UNIVERSITY OF IOANNINA   (Greece)

^d TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

epidemiology; genomics; medicine; public health; translational research

Indexed keywords

CLINICAL PRACTICE; EPIDEMIOLOGY; GENOMICS; HUMAN; KNOWLEDGE; NOTE; OBSERVATIONAL STUDY; OUTCOME ASSESSMENT; POPULATION DYNAMICS; MASS COMMUNICATION; ORGANIZATION AND MANAGEMENT; PUBLIC HEALTH; TRANSLATIONAL RESEARCH;

DIFFUSION OF INNOVATION; EPIDEMIOLOGY; GENOMICS; HUMANS; PUBLIC HEALTH; TRANSLATIONAL MEDICAL RESEARCH;

EID: 77956257911     PISSN: 00029262     EISSN: 14766256     Source Type: Journal    
DOI: 10.1093/aje/kwq211     Document Type: Note

References (66)

1. Woolf SH. The meaning of translational research and why it matters. JAMA 2008;299(2):211-213.
2. Zerhouni EA. Space for the cures: science launches a new journal dedicated to translational research in biomedicine. Sci Trans Med. 2009;1(1):1-2.
3. Contopoulos-Ioannidis DG, Alexiou GA, Gouvias TC, et al. Life cycle of translational research for medical interventions. Science 2008;321(5894):1298- 1299.
4. Butler D. Translational research: crossing the valley of death. Nature 2008;453(7197):840-842.
5. Lenfant C. Shattuck lecture-clinical research to clinical practice-lost in translation? N Engl J Med. 2003;349(9): 868-874.
6. Collins JL, Marks JS, Koplan J.P. Chronic disease prevention and control: coming of age at the Centers for Disease Control and Prevention [editorial]. Prev Chronic Dis. 2010;6(3):A81.
7. University of Bristol, United Kingdom. MRC Center for causal analyses in translational epidemiology (CAITE). Bristol, United Kingdom: University of Bristol; 2010. (http:// www.bristol.ac.uk/caite/). (Accessed January 1, 2010)
8. Mayo Clinic. Multidisciplinary epidemiology and translational research in intensive care (METRIC). Rochester, MN: Mayo Clinic; 2010. (http:// mayoresearch.mayo.edu/gajic
9. Wayne State University. Translational research and clinical epidemiology (TRACE). Detroit, MI: Wayne State University; 2010. (http://trace.med.wayne.edu/ ). (Accessed January 1, 2010).
10. Ness RB, Andrews EB, Gaudino JA, et al. The future of epidemiology. Acad Med. 2009;84(11):1631-1637.
11. Hiatt RA. Epidemiology: key to translational, team and transdisciplinary science. Ann Epidemiol 2008;18(11):859-861.
12. Seminara D, Khoury MJ, OBrien TR, et al. The emergence of networks in human genome epidemiology: challenges and opportunities. Epidemiology 2007;18(1):1-8
13. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461(7265): 747-753.
14. National Institutes of Health. Institutional Clinical and Translational Science Award. Bethesda, MD: National Institutes of Health; 2005. (http://grants.nih.gov/grants/guide/rfafiles/ RFA-RM-06-002.html). (Accessed January 1, 2010).
15. Canadian Institutes for Health Research. About knowledge translation. Ottawa, Canada: Canadian Institutes for Health Research; 2009. (http://www.cihr-irsc.gc.ca/e/29418.html). (Accessed January 10, 2010).
16. Sung NS, Crowley WF Jr, Genel M, et al. Central challenges facing the national clinical research enterprise. JAMA 2003; 289(10):1278-1287.
17. Westfall JM, Mold J, Faqnan L. Practice-based research-blue highways on the NIH road map. JAMA 2007;297(4):403-406.
18. Khoury MJ, Gwinn M, Yoon PW, et al. 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? Genet Med. 2007; 9(10):665-674.
19. Ogilvie D, Craig P, Griffin S, et al. A translational framework for public health research. BMC Public Health 2009;9:116. (doi: 10.1186/1471-2458-9- 116).
20. Thacker SB, Buffington J. Applied epidemiology for the 21st century. Int J Epidemiol. 2001;30(2):320-325.
21. Sackett DL. Clinical epidemiology. What, who, and whither. J Clin Epidemiol. 2002;55(12):1161-1166.
22. Gregg MB. Field Epidemiology 2nd ed. New York, NY: Oxford University Press; 2002.
23. Ahrens W, Krickeberg K, Pigeot I. Introduction to epidemiology. In: AhrensW, Pigeot I, eds. Handbook of Epidemiology Berlin, Germany: Springer; 2005:1-42.
24. Wellcome Trust Case Control Consortium. Genomewide association study in 14000 cases of common diseases and 3000 controls. Nature 2007;447(7145):661-667.
25. Khoury MJ, Bedrosian S, Gwinn M, et al, eds. Chapter 1 Human genome epidemiology-the road map revisited. In: Human Genome Epidemiology: Building the Evidence for Using Genetic Information to Improve Health and Prevent Disease. 2nd ed. New York, NY: Oxford University Press; 2010:3-12.
26. Khoury MJ, McBride CM, Schully SD, et al. The scientific foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med. 2009; 11(8):559-567.
27. Janssens AC, Gwinn M, Bradley LA, et al. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet 2008;82(3):593-595.
28. Ng PC, Murray SS, Levy S, et al. An agenda for personalized medicine. Nature 2009;461(7265):724-726.
29. Yang Q, Flanders WD, Moonesinghe R, et al. Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty. Am J Hum Genet 2009;85(6):786-800.
30. Kraft P, Wacholder S, Cornelis MC, et al. Beyond odds ratios-communicating disease risk based on genetic profiles. Nat Rev Genet. 2009;10(4):264-269.
31. Janssens AC, van Duijn CM. Genome-based prediction of common diseases: methodological considerations for future research. Genome Med. 2009;1(2):20. (doi:10.1186/gm20).
32. Tzoulaki I, Liberopoulos G, Ioannidis J.P. Assessment of claims of improved prediction beyond the Framingham risk score. JAMA 2009;302(21):2345- 2352.
33. Agency for HealthCare Research Quality, US Preventive Services Task Force (USPSTF). Washington, DC: US Preventive Services Task Force; 2010. (http://www.ahrq.gov/CLINIC/ uspstfix.htm). (Accessed January 1, 2010).
34. National Institute of Diabetes and Digestive and Kidney Diseases. Diabetes Prevention Program Outcomes Study. Bethesda, MD: National Institute of Diabetes and Digestive and Kidney Diseases; 2010. (http://www.niddk.nih.gov/ patient/dpp/dppos.htm). (Accessed January 1, 2010).
35. Limdi NA, Veenstra DL. Expectations, validity, and reality in pharmacogenetics [published online ahead of print December 7, 2009]. J Clin Epidemiol. (doi:10.1016/j.jclinepi. 2009.09.006).
36. Khoury MJ, Rich EC, Randhawa G, et al. Comparative effectiveness research and genomic medicine: an evolving partnership for 21st century medicine. Genet Med. 2009; 11(10):707-711.
37. Schully SD, Benedicto CB, Gillanders EM, et al. Translational research in cancer genetics: the road less traveled [published online ahead of print December 29, 2009]. Public Health Genomics (doi: 10.1159/000272897).
38. Segal JB, Brotman DJ, Necochea AJ, et al. Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. JAMA 2009;301(23): 2472-2485.
39. Ioannidis J.P. Personalized genetic prediction: too limited, too expensive, or too soon? Ann Intern Med. 2009;150(2): 139-141.
40. National Cancer Institute. TailorX: testing personalized treatment for breast Cancer Bethesda, MD: National Cancer Institute; 2010. (http://www.Cancergov/clinicaltrials/digestpage/ TAILORx). (Accessed January 1, 2010).
41. Institute of Medicine. Crossing the Quality Chasm: A New Health System for the 21st Century.Washington, DC: National Academy Press; 2001.
42. McGlynn EA, Asch SM, Adams J, et al. The quality of health care delivered to adults in the United States. N Engl J Med. 2003;348(26):2635-2645.
43. Chalmers I,Matthews R. What are the implications of optimism bias in clinical research? Lancet 2006;367(9509):449-450.
44. Madon T, Hofman KJ, Kupfer L, et al. Public health. Implementation science. Science 2007;318(5857):1728-1729.
45. US Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility. Washington, DC: US Preventive Services Task Force; 2005. (http://www.ahrq.gov/clinic/uspstf/ uspsbrgen.htm). (Accessed January 1, 2010).
46. Kolor KK, Liu T, St Pierre J, et al. Health care provider and consumer awareness, perceptions, and use of direct-toconsumer personal genomic tests, United States, 2008 [letter]. Genet Med. 2009;11(8):595.
47. Centers for Disease Control and Prevention. The Behavioral Risk Factor Surveillance System (BRFSSS). Atlanta, GA: Centers for Disease Control and Prevention; 2010. (http:// www.cdc.gov/brfss/). (Accessed January 1, 2010).
48. Mandelblatt JS, Cronin KA, Bailey S, et al. Effects of mammography screening under different screening schedules: model estimates of potential benefits and harms. Ann Intern Med. 2009;151(10):738-747.
49. McCabe LL, McCabe ER. Expanded newborn screening: implications for genomic medicine. Annu Rev Med. 2008;59: 163-175.
50. Grosse SD, Rogowski WH, Ross LF, et al. Population screening for genetic disorders in the 21st century: evidence, economics, and ethics. Public Health Genomics 2010;13(2): 106-115.
51. The Cochrane Collaboration. Ottawa, Canada: The Cochrane Collaboration; 2010. (http://www.cochrane.org/). (Accessed January 1, 2010).
52. Agency for Healthcare Quality Research. Evidence-based practice centers. Washington, DC: Agency for Healthcare Quality Research; 2010. (http://www.ahrq.gov/clinic/epc/). (Accessed January 1, 2010).
53. Centers for Disease Control and Prevention. The Human Genome Epidemiology Network (HuGENet). Atlanta, GA: Centers for Disease Control and Prevention, 2010. (http:// www.cdc.gov/genomics/hugenet/default.htm). (Accessed January 1, 2010).
54. Higgins J.P., Little J, Ioannidis J.P., et al. Turning the pump handle: evolving methods for integrating the evidence on gene-disease association. Am J Epidemiol. 2007;166(8): 863-866.
55. Ioannidis J.P., Boffetta P, Little J, et al. Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol. 2008;37(1):120-132.
56. McCarthy MI, Abecasis GR, Cardon LR, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet. 2008;9(5):356-368.
57. Ioannidis J.P., Thomas G, Daly MJ. Validating, augmenting and refining genome-wide association signals. Nat Rev Genet. 2009;10(5):318-329.
58. Evaluation of Genomic Applications in Practice and Prevention (EGAPP). Atlanta, GA: Office of Public Health Genomics, Centers for Disease Control and Prevention; 2010. (http://www.egappreviews.org/). (Accessed January 1, 2010).
59. Teutsch SM, Bradley LA, Palomaki GE, et al. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPPWorking Group. Genet Med. 2009;11(1):3-14.
60. Wei EK, Colditz GA, Giovannucci EL, et al. Cumulative risk of colon cancer up to age 70 years by risk factor status using data from the Nurses Health Study. Am J Epidemiol. 2009; 170(7):863-872.
61. Mosley BS, Cleves MA, Siega-Riz AM, et al. Neural tube defects and maternal folate intake among pregnancies conceived after folic acid fortification in the United States. National Birth Defects Prevention Study. Am J Epidemiol. 2009; 169(1):9-17.
62. Zintzaras E, Zdoukopoulos N. A field synopsis and metaanalysis of genetic association studies in peripheral arterial disease: the CUMAGAS-PAD database. Am J Epidemiol. 2009;170(1):1-11.
63. Chen W, Srinivasan SR, Elkasabany A, et al. Cardiovascular risk factors clustering features of insulin resistance syndrome (syndrome X) in a biracial (black-white) population of children, adolescents, and young adults: the Bogalusa Heart Study. Am J Epidemiol. 1999;150(7):667-674.
64. Mossong J, Nokes DJ, Edmunds WJ, et al. Modeling the impact of subclinical measles transmission in vaccinated populations with waning immunity. Am J Epidemiol. 1999;150(11): 1238-1249.
65. Katerndahl DA, Lawler WR. Variability in meta-analytic results concerning the value of cholesterol reduction in coronary heart disease: a meta-meta-analysis. Am J Epidemiol. 1999; 149(5):429-441.
66. Khoury MJ. Dealing with the evidence dilemma in genomics and personalized medicine. Clin Pharm Ther. 2010;87(6): 635-638.