Background: The past 20 years have witnessed successive and exponential advances in genomic discovery and technology, with a broad scientific imperative pushing for continual advancements. The most consistent critique of these advances is that they have vastly outpaced translation of new knowledge into improvements in public health and medicine. Methods: We employ a historical and epistemological analysis to characterize how prevailing scientific meta-narratives have shaped the pace and priorities of research applying genomics to health promotion. We use four ‘pivotal events' - the genetic characterization of Down syndrome, the launch of the Human Genome Research Project, the discovery of BRCA1, and the emergence of direct-to- consumer genetic testing - to illustrate how these scientific meta-narratives have inhibited genomic translation research. Results: The notion that discovery should precede translation research has over-focused translation research on the latest genetic testing platform. The idea that genetic-related research has an exceptional potential for public harm has encouraged research on worst case scenarios. The perceived competition between genetics and social determinants of health has discouraged a unified research agenda to move genomic translation forward. Conclusion: We make a case for creating new scientific meta-narratives in which discovery and translation research agendas are envisioned as an interdependent enterprise.

1.
Mardis ER: A decade's perspective on DNA sequencing technology. Nature 2011;470:198-203.
2.
Rahimzadeh V, Bartlett G: Genetics and primary care: where are we headed? J Transl Med 2014;12:238.
3.
Beskow LM, Khoury MJ, Baker TG, Thrasher JF: The integration of genomics into public health research, policy and practice in the United States. Community Genet 2001;4:2-11.
4.
Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L: 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;9:665-674.
5.
World Health Organization: Preventing Chronic Disease: A Vital Investment. Geneva, World Health Organization, 2005.
6.
Cleeren E, Heyden JVD, Brand A, Oyen HV: Public health in the genomic era: will public health genomics contribute to major changes in the prevention of common disease? Arch Public Health 2011;69:2-12.
7.
Schully SD, Benedicto CB, Gillanders EM, Wang SS, Khoury MJ: Translational research in cancer genetics: the road less traveled. Public Health Genomics 2011;14:1-8.
8.
Sorenson JR, Cheuvront B: The human genome project and health behavior and health education research. Health Educ Res 1993;8:589-593.
9.
Lerman C: Translational behavioral research in cancer genetics. Prev Med 1997;26:S65-S69.
10.
Wang C, Bowen DJ, Kardia SL: Research and practice opportunities at the intersection of health education, health behavior, and genomics. Health Educ Behav 2005;32:686-701.
11.
Hay JL, Meischke HW, Bowen DJ, Mayer J, Shoveller J, Press N, Asgari M, Berwick M, Burke W: Anticipating dissemination of cancer genomics in public health: a theoretical approach to psychosocial and behavioral challenges. Ann Behav Med 2007;34:275-286.
12.
Wideroff L, Phillips KA, Randhawa G, Ambs A, Armstrong K, Bennett CL, Brown ML, Donaldson MS, Follen M, Goldie SJ, Hiatt RA, Khoury MJ, Lewis G, McLeod HL, Piper M, Powell I, Schrag D, Schulman KA, Scott J: A health services research agenda for cellular, molecular and genomic technologies in cancer care. Public Health Genomics 2009;12:233-244.
13.
McBride CM, Bowen D, Brody LC, Condit CM, Croyle RT, Gwinn M, Khoury MJ, Koehly LM, Korf BR, Marteau TM, McLeroy K, Patrick K, Valente TW: Future health applications of genomics. Am J Prev Med 2010;38:556-565.
14.
Tercyak KP, Mays D, DeMarco TA, Peshkin BN, Valdimarsdottir HB, Schneider KA, Garber JE, Patenaude AF: Decisional outcomes of maternal disclosure of BRCA1/2 genetic test results to children. Cancer Epidemiol Biomarkers Prev 2013;22:1260-1266.
15.
Thornicroft G, Lempp H, Tansella M: The place of implementation science in the translational medicine continuum. Psychol Med 2011;41:2015-2021.
16.
Best A, Hiatt RA, Norman CD: Knowledge integration: conceptualizing communications in cancer control systems. Patient Educ Couns 2008;71:319-327.
17.
Tremblay MC, Richard L: Complexity: a potential paradigm for a health promotion discipline. Health Promot Int 2014;29:378-388.
18.
Greenhalgh T, Robert G, Macfarlane F, Bate P, Kyriakidou O, Peacock R: Storylines of research in diffusion of innovation: a meta-narrative approach to systematic review. Soc Sci Med 2005;61:417-430.
19.
Drolet BC, Lorenzi NM: Translational research: understanding the continuum from bench to bedside. Transl Res 2011;157:1-5.
20.
Zimmern RL: Genomics and individuals in public health practice: are we luddites or can we meet the challenge? J Public Health (Oxford) 2011;33:477-482.
21.
Holtzman NA, Marteau TM: Will genetics revolutionize medicine? N Engl J Med 2000;343:141-144.
22.
Glass TA, McAtee MJ: Behavioral science at the crossroads in public health: extending horizons, envisioning the future. Soc Sci Med 2006;62:1650-1671.
23.
Ferguson-Smith ME, Ferguson-Smith MA, Nevin NC, Stone M: Chromosome analysis before birth and its value in genetic counselling. BMJ 1971;4:69-74.
24.
Mandal A: Down syndrome history. News Medical, AZoNetwork, 2013.
25.
Sorenson JR, Culbert AJ: Professional orientations to contemporary genetic counseling. Birth Defects Origl Artic Ser 1979;15:85-102.
26.
Rapp R: Chromosomes and communication: the discourse of genetic counseling. Med Anthropol Q 1988;2:143-157.
27.
Baker DL, Schuette JL, Uhlmann WR: A Guide to Genetic Counseling, ed 1. New York, Wiley-Liss, 1998.
28.
Pilnick A, Dingwall R: Research directions in genetic counselling: a review of the literature. Patient Educ Couns 2001;44:95-105.
29.
Evers-Kiebooms G, Berghe HV: Impact of genetic counseling: a review of published follow-up studies. Clin Genet 1979;15:465-474.
30.
Lippman A: Research studies in applied human genetics: a quantitative analysis and critical review of recent literature. Am J Med Genet 1991;41:105-111.
31.
Kessler S: Psychological aspects of genetic counseling. VI. A critical review of the literature dealing with education and reproduction. Am J Med Genet 1989;34:340-353.
32.
Zorzi G, Thurman SK, Kistenmacher ML: Importance and adequacy of genetic counseling information: impressions of parents with Down's syndrome children. Ment Retard 1980;18:255-257.
33.
McLeroy KR, Crump CE: Health promotion and disease prevention: a historical perspective. Generations 1994;18:9-17.
34.
Chumlea WC, Cronk CE: Overweight among children with trisomy. J Ment Defic Res 1981;25:275-280.
35.
Clark EB: Congenital cardiovascular defects in infants with Down syndrome. Pediatr Rev 1989;11:99-100.
36.
Marshall E: The genome project's conscience. Science 1996;274:488-490.
37.
Langfelder EJ, Juengst ET: Ethical, Legal, and Social Implications (ELSI) program: National Center for Human Genome Research, National Institutes of Health. Politics Life Sci 1993;12:273-275.
38.
Boehm D: Applications and issues of the human genome project: PLSC431/631. Intermediate Genetics Student Essays, North Dakota State University, 1999, 2014.
39.
Caulfield T, Chandrasekharan S, Joly Y, Cook-Deegan R: Harm, hype and evidence: ELSI research and policy guidance. Genome Med 2013;5:21.
40.
Heshka JT, Palleschi C, Howley H, Wilson B, Wells PS: A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. Genet Med 2008;10:19-32.
41.
Callanan NP, Cheuvront BJ, Sorenson JR: CF carrier testing in a high risk population: anxiety, risk perceptions, and reproductive plans of carrier by ‘non-carrier' couples. Genet Med 1999;1:323-327.
42.
Broadstock M, Michie S, Marteau T: Psychological consequences of predictive genetic testing: a systematic review. Eur J Hum Genet 2000;8:731-738.
43.
Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King M-C: Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990;250:1684-1689.
44.
Mazoyer S, Lallel P, Narod S, Bignon Y, Courjal F, Jamot B, Dutrillaux B, Stoppa-Lyonneyy D, Sobol H: Linkage analysis of 19 french breast cancer families, with five chromosome 17q markers. Am J Hum Genet 1993;52:754-760.
45.
46.
Williams-Jones B, Burgess MM: Democratising access to genetic services. Fam Cancer 2006;5:117-121.
47.
Eastman P: NCI adopts new mammography screening guidelines for women. J Natl Cancer Inst 1997;89:538-539.
48.
Questions about the BRCA1 and BRCA2 gene study and breast cancer; in National Human Genome Research Institute NIoH (ed): 1997 Release: Breast Cancer Risk Study. Bethesda, National Human Genome Research Institute, 2012.
49.
Kutner SE: Breast cancer genetics and managed care. The Kaiser permanente experience. Cancer 1999;86:2570-2574.
50.
Shiloh S: Genetic counseling: a developing area of interest for psychologists. Prof Psychol Res Pract 1996;27:475-486.
51.
Gritz ER, Moon TE: The new cancer prevention and control. Cancer Epidemiol Biomarkers Prev 1992;1:163-165.
52.
Lerman C, Schwartz M: Adherence and psychological adjustment among women at high risk for breast cancer. Breast Cancer Res Treat 1993;28:145-155.
53.
McInerney JD: Genetics education for health professionals: a context. J Genet Counsel 2008;17:145-151.
54.
Kash KM, Holland JC, Halper MS, Miller DG: Psychological distress and surveillance behaviors of women with a family history of breast cancer. J Natl Cancer Inst 1992;84:24-30.
55.
Butow PN, Lobb EA, Meiser B, Barratt A, Tucker KM: Psychological outcomes and risk perception after genetic testing and counselling in breast cancer: a systematic review. Med J Aust 2003;178:77-81.
56.
Loescher LJ, Lim KH, Leitner O, Ray J, D'Souza J, Armstrong CM: Cancer surveillance behaviors in women presenting for clinical BRCA genetic susceptibility testing. Oncol Nurs Forum 2009;36:E57-E67.
57.
Meiser B, Dunn S: Psychological effect of genetic testing for Huntington's disease: an update of the literature. West J Med 2001;174:336-340.
58.
Meiser B, Mitchell PB, McGirr H, Herten MV, Schofield PR: Implications of genetic risk information in families with a high density of bipolar disorder: an exploratory study. Soc Sci Med 2005;60:109-118.
59.
Roberts JS, Cupples LA, Relkin NR, Whitehouse PJ, Green RC: Genetic risk assessment for adult children of people with Alzheimer's disease: The Risk Evaluation and Education for Alzheimer's Disease (REVEAL) Study. J Geriatr Psychiatry Neurol 2005;18:250-255.
60.
McBride CM, Koehly LM, Sanderson SC, Kaphingst KA: The behavioral response to personalized genetic information: will genetic risk profiles motivate individuals and families to choose more healthful behaviors? Annu Rev Public Health 2010;31:89-103.
61.
Centers for Disease Control and Prevention (CDC): Genetic testing for breast and ovarian cancer susceptibility: evaluating direct-to-consumer marketing - Atlanta, Denver, Raleigh-Durham, and Seattle, 2003. MMWR Morbid Mortal Wkly Rep 2004;53:603-606.
62.
Myers MF, Chang MH, Jorgensen C, Whitworth W, Kassim S, Litch JA, Armstrong L, Bernhardt B, Faucett WA, Irwin D, Mouchawar J, Bradley LA: Genetic testing for susceptibility to breast and ovarian cancer: evaluating the impact of a direct-to-consumer marketing campaign on physicians' knowledge and practices. Genet Med 2006;8:361-370.
63.
Mouchawar J, Laurion S, Ritzwoller DP, Ellis J, Kulchak-Rahm A, Hensley-Alford S: Assessing controversial direct-to-consumer advertising for hereditary breast cancer testing: reactions from women and their physicians in a managed care organization. Am J Manag Care 2005;11:601-608.
64.
Mouchawar J, Hensley-Alford S, Laurion S, Ellis J, Kulchak-Rahm A, Finucane ML, Meenan R, Axell L, Pollack R, Ritzwoller D: Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: a naturally-occurring experiment. Genet Med 2005;7:191-197.
65.
Rimer BK: Toward an improved behavioral medicine. Ann Behav Med 1997;19:6-10.
66.
Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science 1996;273:1516-1517.
67.
McBride CM, Wade CH, Kaphingst KA: Consumers' views on direct-to-consumer genetic information. Annu Rev Genomics Hum Genet 2010;11:427-446.
68.
Goddard KAB, Duquette D, Zlot A, Johnson J, Annis-Emeott A, Lee PW, Bland MP, Edwards KL, Oehlke K, Giles RT, Rafferty A, Cook ML, Khoury MJ: Public awareness and use of direct-to-consumer genetic tests: results from 3 state population-based surveys, 2006. Am J Public Health 2009;99:442-445.
69.
Chan IS, Ginsburg GS: Personalized medicine: progress and promise. Annu Rev Genomics Hum Genet 2011;12:217-244.
70.
Cautions about direct-to-consumer genetic testing. UNC Health Care, Genetic Medicine. Health Healing 2010;13.
71.
Su P: Direct-to-consumer genetic testing: a comprehensive view. Yale J Biol Med 2013;86:359-365.
72.
Ioannidis JP: Genetic associations: false or true? Trends Mol Med 2003;9:135-138.
73.
Katsanis SH, Javitt G, Hudson K: Public health. A case study of personalized medicine. Science 2008;320:53-54.
74.
Huges AL: Me, my genome, and 23andme. New Atlantis 2013;40:3-18.
75.
Lachance CR, Erby LAH, Ford BM, Allen VC Jr, Kaphingst KA: Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers. Genet Med 2010;12:304-312.
76.
Saukko P: State of play in direct-to-consumer genetic testing for lifestyle-related diseases: market, marketing content, user experiences and regulation. Proc Nutr Soc 2013;72:53-60.
77.
Singleton A, Erby LH, Foisie KV, Kaphingst KA: Informed choice in direct-to-consumer genetic testing (DTCGT) websites: a content analysis of benefits, risks, and limitations. J Genet Couns 2012;21:433-439.
78.
Bloss CS, Ornowski L, Silver E, Cargill M, Vanier V, Schork NJ, Topol EJ: Consumer perceptions of direct-to-consumer personalized genomic risk assessments. Genet Med 2010;12:556-566.
79.
Reid RJ, McBride CM, Alford SH, Price C, Baxevanis AD, Brody LC, Larson EB: Association between health-service use and multiplex genetic testing. Genet Med 2012;14:852-859.
80.
Chaufan C: How much can a large population study on genes, environments, their interactions and common diseases contribute to the health of the American people? Soc Sci Med (1982) 2007;65:1730-1741.
81.
Wood J, Sames L, Moore A, Ekins S: Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery. Drug Discov Today 2013;18:1043-1051.
82.
Hickey KT, Sciacca RR, Biviano AB, Whang W, Dizon JM, Garan H, Chung WK: The effect of cardiac genetic testing on psychological well-being and illness perceptions. Heart Lung 2014;43:127-132.
83.
Marteau TM, French DP, Griffin SJ, Prevost AT, Sutton S, Watkinson C, Attwood S, Hollands GJ: Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours. Cochrane Database Syst Rev 2010;CD007275.
84.
Kelley M, Edwards K, Starks H, Fullerton SM, James R, Goering S, Holland S, Disis ML, Burke W: Values in translation: how asking the right questions can move translational science toward greater health impact. Clin Transl Sci 2012;5:445-451.
85.
Glass TA, McAtee MJ: Behavioral science at the crossroads in public health: extending horizons, envisioning the future. Soc Sci Med 2006;62:1650-1671.
86.
Auchincloss AH, Diez Roux AV: A new tool for epidemiology: the usefulness of dynamic-agent models in understanding place effects on health. Am J Epidemiol 2008;168:1-8.
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