Realizing the promise of population biobanks: A new model for translation

Human Genetics

Volumn 130, Issue 3, 2011, Pages 333-345

  Murtagh, Madeleine J ^a   Demir, Ipek ^a   Harris, Jennifer R ^b   Burton, Paul R ^a,c  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

^b NORWEGIAN INSTITUTE OF PUBLIC HEALTH   (Norway)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIOBANK; EVIDENCE BASED PRACTICE; GENETIC VARIABILITY; HEALTH CARE FACILITY; HEALTH CARE POLICY; HEALTH CARE SYSTEM; HEALTH PRACTITIONER; HUMAN; KNOWLEDGE; MEDICAL PRACTICE; MEDICAL RESEARCH; PRIORITY JOURNAL; PUBLIC HEALTH SERVICE; TRANSLATIONAL RESEARCH; BIOLOGICAL MODEL; POLICY; PUBLIC HEALTH; STANDARD;

BIOLOGICAL SPECIMEN BANKS; HUMANS; MODELS, BIOLOGICAL; PUBLIC HEALTH; PUBLIC POLICY; TRANSLATIONAL RESEARCH;

EID: 80053326460     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1036-3     Document Type: Article

References (120)

1. Antoine FS (1991) 1971-1991: biological therapy moves from bench to bedside. J Natl Cancer Inst 83:530
2. Armstrong R, Waters E, Roberts H, Oliver S, Popay J (2006) The role and theoretical evolution of knowledge translation and exchange in public health. J Public Health 28:384
3. BBMRI (2010) Biobanking and biomolecular research resources infrastructure. http://www.bbmri.eu/
4. BioSHARE-EU (2011) Biobank standardisation and harmonisation for research excellence in the European Union European Union-FP7 Program
5. Borugian MJ, Robson P, Fortier I, Parker L, McLaughlin J, Knoppers BM, Bedard K, Gallagher RP, Sinclair S, Ferretti V, Whelan H, Hoskin D, Potter JD (2010) The Canadian partnership for tomorrow project: building a pan-Canadian research platform for disease prevention. CMAJ 182(11):1197-1201
6. Borup M, Brown N, Konrad K, Van Lente H (2006) The sociology of expectations in science and technology. Technol Anal Strategic Manage 18(3/4):285-298 (Pubitemid 44083929)
7. Brown N, Michael M (2003) A sociology of expectations: retrospecting prospects and prospecting retrospects. Technol Anal Strategic Manage 15:3-18 (Pubitemid 36533586)
8. Burke W, Burton H, Hall AE, Karmali M, Khoury MJ, Knoppers B, Meslin EM, Stanley F, Wright CF, Zimmern RL (2010) Extending the reach of public health genomics: what should be the agenda for public health in an era of genome-based and "personalized" medicine? Genet Med 12:785
9. Burton PR, Tobin MD, Hopper JL (2005) Key concepts in genetic epidemiology. Lancet 366:941-951 (Pubitemid 41265670)
10. Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskivina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuYn P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop TD, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Matthew CG, Barbour J, Mohiuddin MK, Todhunter CE, MansWeld JC, Ahmad T, Cummings FR, Jewell DP et al (2007) Association scan of 14, 500 nonsynonymous SNPs in four diseases identiWes autoimmunity variants. Nat Genet 39:1329-1337 (Pubitemid 350041542)
11. Burton PR, Hansell AL, Fortier I, Manolio TA, Khoury MJ, Little J, Elliott P (2009) Size matters: just how big is BIG? Quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol 38:263-273
12. Burton PR, Fortier I, Knoppers BM (2010) The Global Emergence of Epidemiological Biobanks: opportunities and challenges. Building the evidence for using genetic information to improve health and prevent disease. In: Khoury MJ, Gwinn M, Bradley L, Little J, Higgins JP, Ioannidis JP (eds) Human genome epidemiology, 2nd edn. Oxford University Press, New York
13. Callon M (1999) The role of lay people in the production and dissemination of scientific knowledge. Sci Technol Soc 4(1):81
14. Callon M, Larédo P, Rabeharisoa V, Gonard T, Leray T (1992) The management and evaluation of technological programs and the dynamics of techno-economic networks: the case of the AFME. Res Policy 21:215-236
15. Callon M, Lascoumes P, Barthe Y (2009) Acting in an uncertain world: an essay on technical democracy. MIT Press, Cambridge
16. Cambon-Thomsen A, Rial-Sebbag E, Knoppers BM (2007) Trends in ethical and legal frameworks for the use of human biobanks. Eur Respir J 30:373
17. Campbell M, Fitzpatrick R, Haines A, Kinmonth AL, Sandercock P, Spiegelhalter D, Tyrer P (2000) Framework for design and evaluation of complex interventions to improve health. BMJ 321:694
18. Carter C (1977) Monogenic disorders. J Med Genet 14:316-320 (Pubitemid 8202132)
19. CIHR (2011) Canadian Institute of Health Research, vol 2011
20. Clayton D, McKeigue PM (2001) Epidemiological methods for studying genes and environmental factors in complex diseases. Lancet 358:1356-1360 (Pubitemid 33016504)
21. Collins FS (2004) The case for a US prospective cohort study of genes and environment. Nature 429:475-477 (Pubitemid 38715143)
22. Cooksey DS, Britain G, Treasury H (2006) A review of UK health research funding. Stationery Office Books (TSO)
23. Cordell HJ, Clayton DG (2005) Genetic association studies. Lancet 366:1121-1131 (Pubitemid 41338767)
24. Cox D (2011) BBMRI: the industry perspective. http://www.medicaldevice- network.com/features/feature97507/. vol 2011
25. Craig P, Dieppe P, Macintyre S, Michie S, Nazareth I, Petticrew M (2008) Developing and evaluating complex interventions: the new Medical Research Council guidance. BMJ 337:a1655
26. Davey Smith G (2006) Randomised by (your) god: robust inference from an observational study design. J Epidemiol Commun Health 60:382-388
27. Davey Smith G, Ebrahim S (2003) 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease? Int J Epidemiol 32:1-22 (Pubitemid 36503465)
28. Davey Smith G, Ebrahim S, Lewis S, Hansell AL, Palmer LJ, Burton PR (2005) Genetic epidemiology and public health: hope, hype, and future prospects. Lancet 366:1484-1498 (Pubitemid 41483815)
29. Demir I (2008) Incommensurabilities in the work of Thomas Kuhn. Stud Hist Philos Sci Part A 39:133-142
30. Demir I (2011) Lost in translation? Try second language learning: understanding movements of ideas and practices across time and space. J Hist Sociol 24:9-26
31. Denis JL, Langley A, Rouleau L (2007) Strategizing in pluralistic contexts: rethinking theoretical frames. Human Relat 60:179
32. Devlin B, Roeder K, Wasserman L (2001) Genomic control, a new approach to genetic-based association studies. Theor Popul Biol 60:155-166 (Pubitemid 34235086)
33. Didelez V, Sheehan N (2007) Mendelian randomization as an instrumental variable approach to causal inference. Stat Methods Med Res 16:309-330 (Pubitemid 47215256)
34. Dixon-Woods BC, Aveling EL, Goeschel CA, Pronovost PJ (2001) Explaining Michigan: developing an ex post theory of a quality improvement program. Milbank Q 89:167-205
35. Doll R, Hill A (1952) A study of the aetiology of carcinoma of the lung. BMJ 2:1271-1286
36. Doll R, Hill A (1964) Mortality in relation to smoking: 10 years' observation of British doctors. BMJ 1(1399-1410):1460-1467
37. Easton DF, Pooley KA, Dunning AM, Pharoah PDP, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen C-Y, Wu P-E, Wang H-C, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Fagerholm R, Eerola H, Kang D, Yoo K-Y, Noh D-Y, Ahn S-H, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low Y-L, Bogdanova N, Schurmann P, Dork T, Tollenaar RAEM, Jacobi CE, Devilee P, Klijn JGM, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MWR, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Ouweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie M, Southey M, Giles GG, Schroen C, Justenhoven C, Brauch H, Hamann U, Ko Y-D, Spurdle AB, Beesley J, Chen X, Mannermaa A, Kosma V-M, Kataja V, Hartikainen J, Day NE et al (2007) Genome-wide association study identiWes novel breast cancer susceptibility loci. Nature 447:1087-1093 (Pubitemid 47014426)
38. Ebrahim S, Montaner D, Lawlor DA (2004) Clustering of risk factors and social class in childhood and adulthood in British women's heart and health study: cross sectional analysis. Bmj 328:861
39. European Strategy Forum on Research Infrastructures (2006) European Roadmap for Research Infrastructures-Report 2006. European Communities, Brussels
40. Farnworth A, Robson SC, Thomson RG, Watson DB, Murtagh MJ (2008) Decision support for women choosing mode of delivery after a previous caesarean section: a developmental study. Patient Educ Couns 71:116-124
41. Fortier I, Burton PR, Robson PJ, Ferretti V, Little J, L'Heureux F, Deschenes M, Knoppers BM, Doiron D, Keers JC, Linksted P, Harris JR, Lachance G, Boileau C, Pedersen NL, Hamilton CM, Hveem K, Borugian MJ, Gallagher RP, McLaughlin J, Parker L, Potter JD, Gallacher J, Kaaks R, Liu B, Sprosen T, Vilain A, Atkinson SA, Rengifo A, Morton R, Metspalu A, Wichmann HE, Tremblay M, Chisholm RL, Garcia-Montero A, Hillege H, Litton JE, Palmer LJ, Perola M, WolVenbuttel BH, Peltonen L, Hudson TJ (2010) Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies. Int J Epidemiol 39:1383-1393
42. Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JRB, Elliott KS, Lango H, Rayner NW, Shields B, Harries LW, Barrett JC, Ellard S, Groves CJ, Knight B, Patch A-M, Ness AR, Ebrahim S, Lawlor DA, Ring SM, Ben-Shlomo Y, Jarvelin M-R, Sovio U, Bennett AJ, Melzer D, Ferrucci L, Loos RJF, Barroso I, Wareham NJ, Karpe F, Owen KR, Cardon LR, Walker M, Hitman GA, Palmer CNA, Doney ASF, Morris AD, Davey-Smith G, Consortium TWTCC, Hattersley AT, McCarthy MI (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316(5826):889-894 (Pubitemid 46764279)
43. Geels FW (2005) Processes and patterns in transitions and system innovations: reWning the co-evolutionary multi-level perspective. Technol Forecast Social Change 72:681-696 (Pubitemid 40792392)
44. Gen2Phen (2010) Knowledge centre. http://www.gen2phen.org/
45. Gottweis H, Lauss G (2010) Biobank governance in the post-genomic age. Personalized Med 7:187-195
46. Graham ID, Tetroe J (2007) Some theoretical underpinnings of knowledge translation. Acad Emerg Med 14:936-941 (Pubitemid 47615478)
47. Green ED, Guyer MS (2011) Charting a course for genomic medicine from base pairs to bedside. Nature 470:204-213
48. Hammersley M, Atkinson P (2007) Ethnography: principles in practice. Taylor & Francis, London
49. HindorV LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA (2009) Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 106:9362-9367
50. Hoeyer K (2008) The ethics of research biobanking: a critical review of the literature. Biotechnol Genet Eng Rev 25:429-452
51. ISBER (2005) Best practices for repositories I: collection, storage, and retrieval of human biological materials for research. Cell Preserv Technol 3:5
52. JasanoV S (2004) States of knowledge: the co-production of science and social order, Routledge, London
53. Khoury MJ (2004) The case for a global human genome epidemiology initiative. Nat Genet 36:1027-1028
54. Khoury M (2010) Dealing with the evidence dilemma in genomics and personalized medicine. Clin Pharmacol Ther 87:635-638
55. Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L (2007) 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 9:665
56. Khoury MJ, Feero WG, Reyes M, Citrin T, Freedman A, Leonard D (2009a) The genomic applications in practice and prevention network. Genet Med 11:488
57. Khoury MJ, Gwinn M, Bradley L, Little J, Higgins JP, Ioannidis JP (2009b) Human genome epidemiology, 2nd edn. Oxford University Press, New York
58. Khoury MJ, Bowen MS, Burke W, Coates RJ, Dowling NF, Evans JP, Reyes M, St Pierre J (2011) Current priorities for public health practice in addressing the role of human genomics in improving population health. Am J Prev Med 40:486-493
59. Kirch W (2008) Encyclopaedia of public health. Springer Science and Business Media, New York
60. Kitson AS, Straus SE (2009) Knowledge translation in health care: moving from evidence to practice. Wiley, Blackwell
61. Knoppers BM, Chadwick R (2005) Human genetic research: emerging trends in ethics. Nat Rev Genet 6:75-79 (Pubitemid 39657899)
62. Knoppers BM, Kent A (2006) Policy barriers in coherent populationbased research. Nat Rev Genet 7: 8-8
63. Knoppers BM, Fortier I, Legault D, Burton P (2008) The Public Population Project in Genomics (P3G): a proof of concept? Eur J Hum Genet 16:664-665 (Pubitemid 351753361)
64. Lehoux P, Daudelin G, Denis JL, Miller F (2008) Scientists and policymakers at work: listening to epistemic conversations in a genetics science network. Sci Public Policy 35:207-220
65. Litton JE, Muilu J, Bjorklund A, Leinonen A, Pedersen NL (2003) Data modeling and data communication in GenomEUtwin. Twin Res 6:383-390 (Pubitemid 38019776)
66. Löwy I (1996) Between bench and bedside: science, healing, and interleukin-2 in a cancer ward. Harvard Univ Press, Harvard
67. Manolio TA, Bailey-Wilson JE, Collins FS (2006) Genes, environment and the value of prospective cohort studies. Nat Rev Genet 7:812-820 (Pubitemid 44413225)
68. Manolio TA, Brooks LD, Collins FS (2008) A HapMap harvest of insights into the genetics of common disease. J Clin Invest 118:1590-1605 (Pubitemid 351632361)
69. Martin P, Brown N, Kraft A (2008) From bedside to bench? Communities of promise, translational research and the making of blood stem cells. Sci Cult 17:29-41
70. May C (2006) A rational model for assessing and evaluating complex interventions in health care. BMC Health Services Res 6:86
71. May CR, Mair F, Finch T, MacFarlane A, Dowrick C, Treweek S, Rapley T, Ballini L, Ong BN, Rogers A (2009) Development of a theory of implementation and integration: normalization process theory. Implement Sci 4:29
72. Merikangas KR, Risch N (2003) Genomic priorities and public health. Science 302:599-601 (Pubitemid 37310906)
73. Merz B (1985) Nobelists take genetics from bench to bedside. JAMA 254:3161
74. Mitton C, Adair CE, McKenzie E, Patten SB, Perry BW (2007) Knowledge transfer and exchange: review and synthesis of the literature. Milbank Q 85:729-768
75. Mitton C, Adair CE, McKenzie E, Patten S, Waye-Perry B, Smith N (2009) Designing a knowledge transfer and exchange strategy for the Alberta Depression Initiative: contributions of qualitative research with key stakeholders. Int J Ment Health Syst 3:1-10
76. Moore J, Asselbergs F, Williams S (2010) Bioinformatics challenges for genome-wide association studies. Bioinformatics 26:445-455
77. Moore HM, Compton C, Alper J, Vaught JB (2011) International approaches to advancing biospecimen science. Cancer Epidemiol Biomarkers Prev 20(5):729-732
78. Moreira T (2009) Hope and truth in drug development and evaluation in Alzheimer's Disease. In: Bellinger JF (ed) Treating dementia: do we have a pill for it? Johns Hopkins University Press, Baltimore, pp 210-230
79. Moreira T, Palladino P (2005) Between truth and hope: on Parkinson's disease, neurotransplantation and the production of the 'self'. Hist Human Sci 18:55
80. Murtagh MJ, Hepworth J (1997) Implications of menopause for public health. In: HERDSA (ed) National Rural Public Health Forum. HERDSA, Canberra
81. Murtagh MJ, Hepworth J (2003) Menopause as a long term risk to health: implications of general practitioner accounts of prevention for women's choice and decision making. Sociol Health Illn 25:185-207 (Pubitemid 41724431)
82. Murtagh MJ, Thomson RG, May CR, Rapley T, Heaven BR, Graham RH, Kaner EF, Stobbart L, Eccles MP (2007) Qualitative methods in a randomised controlled trial: the role of an integrated qualitative process evaluation in providing evidence to discontinue the intervention in one arm of a trial of a decision support tool. Qual Saf Health Care 16:224
83. Newton-Cheh C, Eijgelsheim M, Rice KM, de Bakker PI, Yin X, Estrada K, Bis JC, Marciante K, Rivadeneira F, Noseworthy PA, Sotoodehnia N, Smith NL, Rotter JI, Kors JA, Witteman JC, Hofman A, Heckbert SR, O'Donnell CJ, Uitterlinden AG, Psaty BM, Lumley T, Larson MG, Stricker BH (2009a) Common variants at ten loci inXuence QT interval duration in the QTGEN Study. Nat Genet 41:399-406
84. Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, Najjar SS, Zhao JH, Heath SC, Eyheramendy S, Papadakis K, Voight BF, Scott LJ, Zhang F, Farrall M, Tanaka T, Wallace C, Chambers JC, Khaw KT, Nilsson P, van der Harst P, Polidoro S, Grobbee DE, Onland-Moret NC, Bots ML, Wain LV, Elliott KS, Teumer A, Luan J, Lucas G, Kuusisto J, Burton PR, Hadley D, McArdle WL, Brown M, Dominiczak A, Newhouse SJ, Samani NJ, Webster J, Zeggini E, Beckmann JS, Bergmann S, Lim N, Song K, Vollenweider P, Waeber G, Waterworth DM, Yuan X, Groop L, Orho-Melander M, Allione A, Di Gregorio A, Guarrera S, Panico S, Ricceri F, Romanazzi V, Sacerdote C, Vineis P, Barroso I, Sandhu MS, Luben RN, Crawford GJ, Jousilahti P, Perola M, Boehnke M, Bonnycastle LL, Collins FS, Jackson AU, Mohlke KL, Stringham HM, Valle TT, Willer CJ, Bergman RN, Morken MA, Doring A, Gieger C, Illig T, Meitinger T, Org E, Pfeufer A, Wichmann HE, Kathiresan S, Marrugat J, O'Donnell CJ, Schwartz SM, Siscovick DS, Subirana I, Freimer NB, Hartikainen AL, McCarthy MI, O'Reilly PF, Peltonen L, Pouta A, de Jong PE, Snieder H, van Gilst WH, Clarke R, Goel A, Hamsten A, Peden JF et al (2009b) Genome-wide association study identiWes eight loci associated with blood pressure. Nat Genet 41:666-676
85. NIH (2011) http://www.grants.nih.gov/grants/glossary.htm#T
86. Nowotny H (2008) Insatiable curiosity: innovation in a fragile future. MIT Press, Cambridge
87. Nowotny H, Scott P, Gibbons M (2001) Re-thinking science: knowledge and the public in an age of uncertainty. Polity Press, Cambridge
88. Nowotny H, Scott P, Gibbons M (2006) Re-thinking science. Knowledge creation, diVusion, and use in innovation networks and knowledge clusters: a comparative systems approach across the United States, Europe, and Asia, vol 39
89. O'Malley MA, Stotz K (2011) Intervention, integration and translation in obesity research: Genetic, developmental and metaorganismal approaches. Philos Ethics Humanities Med 6:2
90. P3G Consortium, Church G, Heeney C, Hawkins N, de Vries J, Boddington P, Kaye J, Bobrow M, Weir B (2009) Public Access to Genome-Wide Data: Wve views on balancing research with privacy and protection. PLoS Genet 5:e1000665
91. P3G Observatory (2009). http://www.p3gobservatory.org
92. Palmer TM, Thompson JR, Tobin MD, Sheehan NA, Burton PR (2008) Adjusting for bias and unmeasured confounding in Mendelian randomization studies with binary responses. Int J Epidemiol 1161-1168
93. Peakman TC, Elliott P (2008) The UK Biobank sample handling and storage validation studies. Int J Epidemiol 37(Suppl 1):i2-i6
94. Pisani E, AbouZahr C (2010) Sharing health data: good intentions are not enough. Bull World Health Organ 88:462-466
95. Pritchard JK, Cox NJ (2002) The allelic architecture of human disease genes: common disease-common variant or not? Hum Mol Genet 11:2417-2423 (Pubitemid 35174705)
96. Repapi E, Sayers I, Wain LV, Burton PR, Johnson T, Obeidat M, Zhao JH, Ramasamy A, Zhai G, Vitart V, HuVman JE, Igl W, Albrecht E, Deloukas P, Henderson J, Granell R, McArdle WL, Rudnicka AR, Barroso I, Loos RJ, Wareham NJ, Mustelin L, Rantanen T, Surakka I, Imboden M, Wichmann HE, Grkovic I, Jankovic S, Zgaga L, Hartikainen AL, Peltonen L, Gyllensten U, Johansson A, Zaboli G, Campbell H, Wild SH, Wilson JF, Glaser S, Homuth G, Volzke H, Mangino M, Soranzo N, Spector TD, Polasek O, Rudan I, Wright AF, Heliovaara M, Ripatti S, Pouta A, Naluai AT, Olin AC, Toren K, Cooper MN, James AL, Palmer LJ, Hingorani AD, Wannamethee SG, Whincup PH, Smith GD, Ebrahim S, McKeever TM, Pavord ID, Macleod AK, Morris AD, Porteous DJ, Cooper C, Dennison E, Shaheen S, Karrasch S, Schnabel E, Schulz H, Grallert H, Bouatia-Naji N, Delplanque J, Froguel P, Blakey JD, Britton JR, Morris RW, Holloway JW, Lawlor DA, Hui J, Nyberg F, Jarvelin MR, Jackson C, Kahonen M, Kaprio J, Probst-Hensch NM, Koch B, Hayward C, Evans DM, Elliott P, Strachan DP, Hall IP, Tobin MD (2009) Genomewide association study identiWes Wve loci associated with lung function. Nat Genet 42:36-44
97. Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, Florez JC, Meyer J, Ardlie K, Bengtsson Bostrom K, Isomaa B, Lettre G, Lindblad U, Lyon HN, Melander O, Newton-Cheh C, Nilsson P, Orho-Melander M, Rastam L, Speliotes EK, Taskinen MR, Tuomi T, Guiducci C, Berglund A, Carlson J, Gianniny L, Hackett R, Hall L, Holmkvist J, Laurila E, Sjogren M, Sterner M, Surti A, Svensson M, Svensson M, Tewhey R, Blumenstiel B, Parkin M, Defelice M, Barry R, Brodeur W, Camarata J, Chia N, Fava M, Gibbons J, Handsaker B, Healy C, Nguyen K, Gates C, Sougnez C, Gage D, Nizzari M, Gabriel SB, Chirn GW, Ma Q, Parikh H, Richardson D, Ricke D, Purcell S (2007) Genome-wide association analysis identiWes loci for type 2 diabetes and triglyceride levels. Science 316:1331-1336 (Pubitemid 46871653)
98. Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, Prokunina-Olsson L, Ding CJ, Swift AJ, Narisu N, Hu T, Pruim R, Xiao R, Li XY, Conneely KN, Riebow NL, Sprau AG, Tong M, White PP, Hetrick KN, Barnhart MW, Bark CW, Goldstein JL, Watkins L, Xiang F, Saramies J, Buchanan TA, Watanabe RM, Valle TT, Kinnunen L, Abecasis GR, Pugh EW, Doheny KF, Bergman RN, Tuomilehto J, Collins FS, Boehnke M (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316:1341-1345 (Pubitemid 46871655)
99. Sheehan NA, Didelez V, Burton PR, Tobin MD (2008) Mendelian randomisation and causal inference in observational epidemiology. PLoS Med 5:e177
100. Spencer CC, Su Z, Donnelly P, Marchini J (2009) Designing genomewide association studies: sample size, power, imputation, and the choice of genotyping chip. PLoS Genet 5:e1000477
101. Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA, Masson G, Jakobsdottir M, Thorlacius S, Helgason A, Aben KK, Strobbe LJ, Albers-Akkers MT, Swinkels DW, Henderson BE, Kolonel LN, Le Marchand L, Millastre E, Andres R, Godino J, Garcia-Prats MD, Polo E, Tres A, Mouy M, Saemundsdottir J, Backman VM, Gudmundsson L, Kristjansson K, Bergthorsson JT, Kostic J, Frigge ML, Geller F, Gudbjartsson D, Sigurdsson H, Jonsdottir T, Hrafnkelsson J, Johannsson J, Sveinsson T, Myrdal G, Grimsson HN, Jonsson T, von Holst S, Werelius B, Margolin S, Lindblom A, Mayordomo JI, Haiman CA, Kiemeney LA, Johannsson OT, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K (2007) Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptorpositive breast cancer. Nat Genet 39:865-869 (Pubitemid 47014497)
102. Stover PJ, Harlan WR, Hammond JA, Hendershot T, Hamilton CM (2010) PhenX: a toolkit for interdisciplinary genetics research. Curr Opin Lipidol 21(2):136-140
103. Taubes G (1995) Epidemiology faces its limits. Science 269:164-169
104. Thomson R, Murtagh M, Khaw FM (2005) Tensions in public health policy: patient engagement, evidence-based public health and health inequalities. Qual Saf Health Care 14:398
105. Timpson NJ, Lawlor DA, Harbord RM, Gaunt TR, Day IN, Palmer LJ, Hattersley AT, Ebrahim S, Lowe GD, Rumley A, Davey Smith G (2005) C-reactive protein and its role in metabolic syndrome: Mendelian randomisation study. Lancet 366:1954-1959 (Pubitemid 41713985)
106. Wallace S, Lazor S, Knoppers BM (2009) Consent and population genomics: the creation of generic tools. IRB Ethics Human Res 31:15-20
107. Walport M, Brest P (2011) Sharing research data to improve public health. Lancet 377:537-539
108. Wellcome-Trust-Case-Control-Consortium (2007) Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature 447:661-678
109. Westfall JM, Mold J, Fagnan L (2007) Practice-based research-"Blue Highways" on the NIH roadmap. JAMA 297:403
110. Wichmann HE et al (2011) Comprehensive catalogue of European biobanks. Nat Biotechnol (in press)
111. Wolfson M, Wallace SE, Masca N, Rowe G, Sheehan NA, Ferretti V, LaXamme P, Tobin MD, Macleod J, Little J, Fortier I, Knoppers BM, Burton PR (2010) DataSHIELD: resolving a conXict in contemporary bioscience-performing a pooled analysis of individuallevel data without sharing the data. Int J Epidemiol 39:1372-1382
112. Wong MY, Day NE, Luan JA, Chan KP, Wareham NJ (2003) The detection of gene-environment interaction for continuous traits: should we deal with measurement error by bigger studies or better measurement? Int J Epidemiol 32:51-57 (Pubitemid 36503473)
113. Woolf SH (2008) The meaning of translational research and why it matters. JAMA 299:211
114. World Health Organisation (2008) WHO Report on the global tobacco epidemic. World Health Organisation, Geneva
115. Yuille M, van Ommen GJ, Brechot C, Cambon-Thomsen A, Dagher G, Landegren U, Litton JE, Pasterk M, Peltonen L, Taussig M, Wichmann HE, Zatloukal K (2008) Biobanking for Europe. Brief Bioinform 9:14-24
116. Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JRB, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney ASF, WTCCC, McCarthy MI, Hattersley AT (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316:1336-1339
117. Zerhouni E (2003) Medicine. The NIH Roadmap. Science 302:63-72
118. Zerhouni EA (2005) Translational and clinical science-time for a new vision. N Engl J Med 353:1621-1623 (Pubitemid 41434645)
119. Zimmern RL, Brice PC (2009) Realizing the potential of genomics: translation is not translational research. Genet Med 11:898
120. Zondervan KT, Cardon LR (2007) Designing candidate gene and genome-wide case-control association studies. Nat Protoc 2: 2492-2501